16p11.2CNV Type: Deletion-Duplication
Largest CNV size: 1100000 bp
Statistics Box:
Number of Reports: 137
Summary Information
Copy number variants in the 16p11.2 locus are among the most freqeuntly observed in autistic populations. These CNVs are typically at least 500,000 base pairs in length, with start and end points at ~29.56 Mb and ~30.11 Mb, respectively. Deletions are observed more frequently than duplications at this locus in autistic individuals.
Additional Locus Information
References
Strong association of de novo copy number mutations with autism.
Deletion
Recurrent 16p11.2 microdeletions in autism.
Deletion-Duplication
Association between microdeletion and microduplication at 16p11.2 and autism.
Deletion-Duplication
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Deletion-Duplication
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism ...
Deletion-Duplication
Microduplications of 16p11.2 are associated with schizophrenia.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
De novo rates and selection of large copy number variation.
Deletion
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion-Duplication
ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.
Deletion
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Deletion-Duplication
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
High rate of disease-related copy number variations in childhood onset schizophrenia.
Duplication
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.
Deletion
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion-Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion-Duplication
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion-Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Clinical genetic testing for patients with autism spectrum disorders.
Deletion-Duplication
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion
Age- and gender-dependent obesity in individuals with 16p11.2 deletion.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Duplication
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Deletion
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion-Duplication
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Duplication
Infantile spasms are associated with abnormal copy number variations.
Deletion
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
New insights into replication clamp unloading.
Deletion
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region.
Deletion
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion-Duplication
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.
Deletion
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion-Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion-Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion-Duplication
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Duplication
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Deletion
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion-Duplication
ahn_13_SCZ_discovery_cases
Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
126
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
N/A
N/A
604000
0
2
2
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
555159
3
0
3
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
1543300
0
1
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
443000
0
1
1
badar_22_DD_discovery_cases
Similarly affected fraternal twin siblings, each of whom presented with a homozygous 16p11.2 duplication, who were referred to the Indiana University School of Medicine, Indianapolis, Indiana
2
Both siblings presented with developmental delay
3.5 yrs.
50.00% Male
550514
0
4
4
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
573000
0
1
1
bassuk_13_ID/EP_discovery_cases
Affected individuals in a family (two siblings and their mother) with intellectual disability and epilepsy
3
Intellectual disability (ID) and epilepsy (EP)
N/A
33.3% Male
700000
3
0
3
bena_13_ASD/DD/ID_discovery_cases
Previously unreported individuals with NRXN1 exonic deletions recruited as part of a multicenter study
25
Diagnosis of ASD in 65% of cases (diagnostic tools N/A). Other recurrent diagnoses: intellectual disability (91%), language delay (81%), seizures (43%), and hypotonia (38%).
Range, 5-59 yrs.
76.0% Male
680000
1
0
1
beunders_13_DD/ID/ASD_discovery_cases
Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
49684
Intellectual disability and/or mulitple congenital anomalies
NA
NA
212848
0
1
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
668500
1
0
1
breckpot_16_ID/catatonia_discovery_cases
Adult psychiatric patients with intellectual disability and catatonia recruited from an inpatient unit in the St-Camillus Psychiatric Hospital (Bierbeek, Belgium) from January 2005-January 2015
15
Cases diagnosed with intellectual disability (ID) and catatonia (DSM-5 criteria)
Adult
N/A
600000
0
1
1
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
580000
0
2
2
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
523388
0
1
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
618367
0
1
1
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
864000
2
1
3
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
699411
3
0
3
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
544344
1
0
1
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
600000
0
1
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
980000
4
0
4
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
227691
1
0
1
ciuladaite_11_ASD/DD_discovery_cases
Two probands (one male, one female) with 16p11.2 deletions
2
1 patient with developmental delay, 1 patient with autism/autistic features & developmental delay
Range, 4 yrs. 7 mos.-7 yrs.
50% Male
542300
2
0
2
crepel_11_ASD_discovery_cases
Patients from the Leuven Autism Research (LauRes) consortium
363
Diagnosis of non-syndromic ASD (DSM-IV criteria); normal karyotype. Exclusion criteria: Fragile-X syndrome & profound-to-moderate mental retardation
86.5% Male
600000
2
0
2
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
544344
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
336642
0
1
1
davis_12_ASD_discovery_cases
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
1
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
12 yrs.
Male
998252
0
3
3
dell'edera_18_MCA_discovery_cases
2-year-old female born to non-consanguineous parents presenting with a maternally-inherited 16p11.2 deletion that segregated with disease in the family
1
Proband presented with poor height and weight development, anorexia, dysmorphic features, and multiple congenital anomalies (her mother presented with obesity, mild intellectual disability, and minor dysmorphic features)
2 years
Female
597840
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
872956
8
5
13
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
602670
0
5
5
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
290425
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1767484
13
13
26
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
598000
1
0
1
fedorenko_15_CAS_discovery_cases
Cases with 16p11.2 deletions from the Simons Variation in Individuals Project (Simons VIP) cohort recruited from attendees of the 2013 Simons VIP Connect Family Meeting in Orlando, FL
11
Nine cases met the three American Speech and Hearing Association (ASHS)-based consensus diagnostic criteria for childhood apraxia of speech (CAS); the limited verbal output for the remaining two participants precluded speech diagnosis. Neuropsychological testing using Kaufmann Brief Intelligence Test (KBIT), Peabody Picture Vocabulary Test (PPVT), Test for Reception of Grammar (TROG), rapid automatized naming (RAN), and Bruininks-Oseretsky Test (BOT).
Range, 5.4-18.1 yrs. (mean age, 10.8 yrs)
72.72% Male
600000
11
0
11
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
509380
2
4
6
fernandez_10_ASD_discovery_cases
ASD cases collected through multicenter Canadian research team
6
ASD and/or developmental delay
555000
3
3
6
fetit_20_ASD_discovery_cases
Individuals with 16p11.2 deletions recruited through online platforms, such as Simons Variation in Individuals Project (Simons VIP)
3
Two of three cases were diagnosed with autism spectrum disorder (ASD), while the third presented with autistic features.
Range, 5-11 yrs.
33.33% Male
610622
3
0
3
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
664446
1
4
5
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
603000
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
761424
0
1
1
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
232162
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
583059
15
34
49
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
550000
156
111
267
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
850000
6
9
15
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
850000
64
28
92
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
455501
10
19
29
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
530464
3
2
5
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
530464
7
8
15
golzio_12_ASD_discovery_cases
ASD cases screened for ~118 kb deletions in the 16p11.2 locus containing the KCTD13 gene
518
Diagnosis of autism or ASD based on meeting ADOS diagnostic criteria
NA
NA
300000
8
2
10
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
530464
1
2
3
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
1150040
0
1
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
760799
6
2
8
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
825982
0
2
2
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
524274
1
1
2
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
398360
1
0
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
765304
5
0
5
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
640000
1
1
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1838140
76
53
129
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
596000
2
0
2
kino_12_ASD_discovery_cases
Autistic male proband recruited by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NIH)
1
Diagnosis of ASD with developmental delay, facial and genital dysmorphisms, and partial resistance to glucocorticoids, thyroid hormones, and possibly androgens.
7 yrs.
Male
1100000
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
747661
4
4
8
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
736162
N/A
N/A
24
kumar_08_ASD_discovery_cases
180 AGRE samples (19 simplex and 161 multiplex). Sample overlap with Weiss et al., 2008 16p11.2 CNV report.
180
ASD
500000
2
0
2
kumar_08_ASD_replication_cases
230 AGRE (11 simplex and 219 multiplex), 302 NIMH (57 simplex and 245 multiplex). Sample overlap with Weiss et al., 2008 16p11.2 CNV report.
532
ASD
500000
3
1
4
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
911836
1
4
5
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
973255
2
4
6
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
911837
1
4
5
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
705775
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
773769
1
4
5
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
568305
1
0
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
876949
0
4
4
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
1768026
2
1
3
lengyel_20_ASD/DD/ID_discovery_cases
Children referred to genetic counseling with a combination of non-syndromic minor craniofacial anomalies, mild to moderate ID/DD, and other variable neuropsychiatric symptoms
73
Cases presented with a combination of non-syndromic minor craniofacial anomalies, mild to moderate ID/DD, and other variable neuropsychiatric symptoms, including autism spectrum disorder
N/A
N/A
2053854
4
4
8
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
757000
3
2
5
levkova_21_DD/EP_discovery_cases
Adopted 4-year-old female from Bulgaria with a 16p11.2 duplication
1
Case presented with developmental delay (motor delay, delayed neurological development, absent speech), epilepsy (petit mal seizures), and stereotypic movements
4 years
Female
739817
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
636716
8
5
13
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
487879
2
0
2
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
604232
4
1
5
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
561894
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
591000
6
2
8
mak_17_ASD_discovery_cases
Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
258
Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
Range, 1.5-25 years
83.33% Male
560000
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
675829
2
2
4
mccarthy_09_ASD_discovery_cases
ASD patients from AGRE (692), Columbia Univ. (32), Inst. Child Health (28), NIMHAU (49), North Shore Univ. .Hospital (10), Trinity College Dublin (60), and Vanderbilt Univ. (63)
934
ASD
684197
7
4
11
mccarthy_09_BiP_discovery_cases
Bipolar disorder patients from GEM (161), WTCCC (1697), and GAIN (1457)
3315
Bipolar disorder
600000
0
4
4
mccarthy_09_SCZ_discovery_cases
Patients from Cardiff Univ. (471), CATIE (738), Columbia (19), McLean Hospital (161), NIMH (83), New York Univ. (259), & Univ. Washington (175)
1906
Schizophrenia
69.7% Male
600000
1
12
13
mccarthy_09_SCZ_replication_cases
GAIN
2645
Schizophrenia
66.1% Male
600000
0
9
9
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
620140
1
2
3
miyake_23_ASD_discovery_cases
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
405
Cases were clinically diagnosed with ASD based on DSM-V.
NA
69.88% Male
555197
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
217000
0
2
2
moreira_14_ASD/EP_discovery_cases
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
531
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
N/A
N/A
824000
1
4
5
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
617816
0
1
1
mulle_13_SCZ_discovery_cases_1
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
554
Diagnosis of schizophrenia based on meeting DSM-IV citeria
N/A
N/A
874089
0
4
4
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
592000
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
694000
0
4
4
newbury_12_ASD/CAS_discovery_cases
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
1
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
14 yrs.
Male
546352
1
1
2
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
259998
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
604414
0
1
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
545500
2
0
2
pebrel-richard_13_DD_discovery_cases
Second child of healthy non-consanguineous parents with no relevant family history with some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL) or Batten disease (OMIM 204200)
1
Developmental delay, retinis pigmentosa with progressive visual failure, ataxia, peripheral neuropathy, and behavioral difficulties
16 yrs.
Male
1700000
1
0
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
1944227
4
0
4
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
1040748
1
0
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
1387425
1
1
2
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
985714
6
3
9
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
680461
4
2
6
posar_20_ASD/DD/ID_discovery_cases
Children referred for a neurodevelopmental disorder from 2013 to 2020 screened for 16p11.2 duplications
347
Diagnosis of ASD made using ADOS-2 (modules 1, 2, or 3); intellectual disability assessed using either WISC-IV or Leiter-R; "Batteria di Valutazione Neuropsicologica" used to evaluate cognitive functions (language, attention, memory, and learning); CBCL administered for evaluation of behavioral problems
Range, 7 yrs. 3 mos.-15 yrs. 10 mos.
80.0% Male
590001
0
5
5
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
524852
3
3
6
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
868405
4
5
9
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
908430
4
6
10
raca_12_CAS_discovery_cases
Patients recruited and consented for a study of pediatric motor speech disorders
2
Childhood apraxia of speech (CAS). Patients assessed using the Madison Speech Assessment Protocol (MSAP). Case 1 reportedly has social difficulties (autistic features), case 2 has ADHD.
NA
NA
562000
2
0
2
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
600000
0
5
5
reinthaler_14_EP_replication_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada
112
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 109 cases with rolandic epilepsy, 3 cases with atypical rolandic epilepsy.
N/A
56.25% Male
600000
0
1
1
repnikova_19_ASD/DD/ADHD_discovery_cases
Unrelated individuals with exonic CNVs involving the CNTN6 gene from an initial cohort of 6,200 patients referred to Children's Mercy Hospital and 14,026 patients referred to Nationwide Children's Hospital for microarray testing from 2008 to 2015
19
The most frequently observed phenotypes in this cohort were developmental delay (9 patients), ASD (diagnosis based on DSM-IV criteria in seven patients), and ADHD (six patients).
Range, 10 days-60 years
63.16% Male
535234
1
0
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
726000
1
1
2
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
508538
5
2
7
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
803464
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
736720
65
109
174
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
2866465
0
2
2
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
517000
1
1
2
schaefer_10_ASD_discovery_cases
Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
68
Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
NA
1
0
1
schuch_19_ASD_discovery_cases
Childen of European descent diagnosed with idiopathic ASD
40
Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
Mean, 7.83 2.95 yrs.
90.00% Male
525000
1
0
1
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
502574
1
0
1
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
605817
2
0
2
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
679000
5
1
6
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
1990000
0
2
2
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
795000
0
2
2
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
306000
0
1
1
stobbe_13_ASD_discovery_cases
Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
36
Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
Range, 18-45 yrs. (mean 25.3 yrs.)
77.78% Male
535000
1
0
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
658604
1
0
1
szelest_21_ASD/DD/ID/EP_discovery_cases
Three unrelated individuals with 16p11.2 deletions evaluated at the Medical University of Lublin (Lublin, Poland)
3
Two of the three individuals presented with developmental delay, with one of these individuals also presenting with early childhood autism, intellectual disability, and epilepsy.
Range, 1 mo.-5.5 yrs.
33.33% Male
1699551
3
0
3
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
847000
1
0
1
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
754025
1
1
2
tiwari_12_EP_discovery_cases
Patients with infantile spasms assessed at Wayne State University (Detroit, MI, USA)
13
Epilepsy (infantile spasms). Additional phenotypic features: developmental delay, autistic features, hypotonia/ataxia, and dysmorphic features.
NA
38.46% Male
595365
1
0
1
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
524646
0
1
1
tuncay_22_ASD_discovery_cases
ASD probands from 22 families (20 trios, 1 quad with two affected siblings, and 1 quad with an affected proband and his unaffected fraternal twin) with recent shared ancestry that were recruited either from Jordan or from the Dallas/Fort Worth area.
23
Cases diagnosed with ASD based on standard autism diagnostic measures (ADOS, ADI-R, DSM-V)
NA
86.96% Male
797829
3
0
3
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
1180482
0
1
1
van_den_bossche_12_BPD_discovery_cases
Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
676
Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
458000
0
2
2
van_den_bossche_12_ID_discovery_cases
Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
260
Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
NA
NA
0
0
0
0
van_den_bossche_12_MDD_discovery_cases
Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
169
Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
0
0
0
0
van_den_bossche_12_SCZ_discovery_cases
Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
1281
Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
620000
0
2
2
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
217847
1
0
1
wallace_18_ASD_discovery_cases
Proband with 16p11.2 triplication ascertained as part of the longitudinal portion of the Simons Variation in Individuals Project (SVIP) and evaluated under seven study visits between 31 and 72 months old
1
Proband met DSM-IV-TR diagnostic criteria for PDD-NOS, mild intellectual disability, ADHD, enuresis, and encopresis
72 mos.
Male
597000
0
2
2
weiss_08_ASD_discovery_cases
AGRE: ASD case subjects from 751 families
1441
1252 cases diagnosed with autism, 123 with broad spectrum autism, 66 with NQA (not quite autism)
593000
5
7
12
weiss_08_ASD_replication_cases
ASD cases from deCODE, Iceland
299
ASD subjects
593000
3
0
0
weiss_08_DD/MR/ASD_replication_cases
Patients with DD, MR, or ASD referred by Children's Hospital, Boston
512
Children with developmental delay, mental retardation, and/or autism spectrum disorder without noted dysmorphic features
593000
5
4
9
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
530466
1
0
1
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
748579
1
4
5
woodbury_smith_23_ASD/DD/ID_discovery_cases
Three affected siblings with a maternally-inherited 16p11.2 distal deletion that was inherited from a mother who was clinically evaluated to have a broader autism phenotype (BAP); this family was referred to the clinical genetics service at the Hospital for Sick Children (SickKids, Toronto, Ontario, Canada) and the Holland Bloor- view Kids Rehabilitation Hospital (Toronto, Ontario, Canada) as part
3
Two of the three siblings were diagnosed with autism spectrum disorder (ASD); the oldest sibling also presented with expressive language impairment and borderline intellectual disability, while the younger sibling presented with gross and fine motor delays, developmental coordination disorder, and dyslexia.
Range, 7-12 yrs.
Male
226690
3
0
3
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
660000
1
0
1
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
212182
1
0
1
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
577588
2
0
2
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
600139
1
4
5
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
858999
2
2
4
yu_11_ASD_discovery_cases
Patients with clinical indication of ASD out of 6680 consecutive clinical referred diagnostic cases subjected to aCGH analysis.
2200
ASD
NA
NA
600000
10
0
10
yu_11_nonASD_discovery_cases
Patients with no clinical indication of ASD out of 6680 consecutive clinical referred diagnostic cases subjected to aCGH analysis.
4480
Developmental delay and intellectual disability and/or dysmorphism or mulitple congenital anomalies
NA
NA
600000
18
0
18
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
961802
6
5
11
ahn_13_SCZ_discovery_controls
Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
98
Control
N/A
N/A
N/A
N/A
N/A
N/A
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
787211
1
0
1
beunders_13_DD/ID/ASD_discovery_controls
Control cohort comprised of Ottawa Heart Institute (OHI) controls from Canada (n=1234), POPGEN controls from Germany (n=1123), SAGE controls from the United States (n=1287), Welcome Trust (WTCCC) controls (n=4783), HapMap Phase 3 controls (n=1056), Lowlands Consortium controls (n=981), and a combined adult controls set (HGDP, NINDS, and others; n=6239)
16784
Control
NA
NA
212848
NA
NA
NA
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
980000
0
0
0
crepel_11_ASD_discovery_controls
Unrelated children randomly selected from the East-Flanders Prospective Twin Survey (EFPTS)
477
Controls (no data available on autism status of children used in control sample)
50.1% Male
600000
0
0
0
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
1806742
26
10
36
fernandez_10_ASD_discovery_controls
Population controls not assessed for autism
2387
Controls
555000
0
0
0
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
656474
14
41
55
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
550000
4
4
8
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
N/A
N/A
N/A
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
850000
3
2
5
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
731846
12
18
30
glessner_09_ASD_discovery_controls
Controls
1409
Controls
530464
2
3
5
glessner_09_ASD_replication_controls
Controls
1110
Controls
530464
0
0
0
golzio_12_ASD_discovery_controls
Control subjects screened for ~118 kb deletions in the 16p11.2 locus containing the KCTD13 gene
8328
Control
NA
NA
118000
5
0
5
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
530464
NA
NA
NA
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
549859
5
4
9
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
56667
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
524848
0
5
5
kumar_08_ASD_discovery_controls
DNA from NIMH Genetics Initiative Control sample set
372
Controls
500000
0
0
0
kumar_08_ASD_replication_controls
DNA from NIMH Genetics Initiative Control sample set
465
Controls
500000
0
2
2
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
589871
0
2
2
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
589872
0
1
1
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
876949
0
1
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
500000
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
140338
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
mccarthy_09_SCZ_discovery_controls
Healthy individuals with no history of or not screened for schizophrenia from CATIE (289), CSHL (29), HapMap (117), NINDS (262), NIMH (96), NYCP (386), and WTCCC (2792)
3971
Controls
49.5% Male
600000
3
1
4
mccarthy_09_SCZ_replication_controls
GAIN
2420
Controls
42.9% Male
775506
1
1
2
mulle_13_SCZ_discovery_controls_1
Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
1014
Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
N/A
N/A
N/A
N/A
N/A
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
533974
2
3
5
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
868405
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
600000
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
167348
50
81
131
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
502574
0
0
0
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
306000
0
1
1
van_den_bossche_12_BPD_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
815000
0
2
2
van_den_bossche_12_ID_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
815000
0
2
2
van_den_bossche_12_MDD_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
815000
0
2
2
van_den_bossche_12_SCZ_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
815000
0
2
2
weiss_08_ASD_discovery_controls
Control samples consisting of AGRE parents, bipolar disorder cases, or NIMH controls
4234
1420 AGRE parents, 1087 cases with bipolar disorder (STEP-BD), or 1727 controls from NIMH Genetics Repository
593000
3
2
5
weiss_08_ASD_replication_controls
Controls from deCODE, Iceland
18834
Subjects not screened for a pyschiatric or language disorder
593000
2
5
7
weiss_08_DD/MR/ASD_replication_controls
Non-DD/MR/ASD patients from Children's Hospital, Boston
434
Chidren diagnosed with multiple congential anomalies, dysmorphic features, seizures, or congential hear disease, but not ASD, DD, or MR
593000
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
600139
0
0
0
ahn_13_SCZ_discovery_cases
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
Validation based on familial presence of CNV
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
None
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
badar_22_DD_discovery_cases
United States
CMA
ThermoFisher CytoScan HD
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
None
bassuk_13_ID/EP_discovery_cases
N/A
aCGH
Agilent SurePrint G3 1M array
Genome Workbench
None
bena_13_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Agilent 244K, Agilent 105K, Agilent 180K, OGT custom design 180K, Affymetrix 250K NspI, Affymetrix 250K, Affymetrix Cyto-2.7 M, Illumina 12-330K
FISH, MLPA
beunders_13_DD/ID/ASD_discovery_cases
NA
aCGH, array SNP, solid phase hybridization
Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
None
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
breckpot_16_ID/catatonia_discovery_cases
Belgium
aCGH
OGT CytoSure ISCA
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent 4x180K or 8x60K)
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
ciuladaite_11_ASD/DD_discovery_cases
aCGH
Agilent 105K
Feature Extraction, Genetic Workbench V5.0.14
RT-PCR
crepel_11_ASD_discovery_cases
qPCR
Roche LightCycler 480
LightCycler 480 SW 1.5
Affymetrix 6.0, qPCR
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
davis_12_ASD_discovery_cases
NA
Solid phase hybridization
Illumina Human 1M-Duo DNA Analysis Bead Chip
PennCNV, QuantiSNP, Gnosis
CNVision
None
dell'edera_18_MCA_discovery_cases
Italian
aCGH
OGT CytoSure ISCA v2 180K
OGT CytoSure Interpret v.48
FISH
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
fedorenko_15_CAS_discovery_cases
N/A
N/A
N/A
N/A
N/A
N/A
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fernandez_10_ASD_discovery_cases
Canadian
Array SNP, solid phase hybridization
Affymetrix 500K, Affymetrix 6.0, Illumina 1M BeadChip
dChip, CNAG, GEMCA, Birdsuite, Partek Genomics Suite, Affymetrix Genotyping Console, Quanti-SNP, Penn CNV, iPattern
qPCR, FISH
fetit_20_ASD_discovery_cases
N/A
aCGH, CMA, molecular karyotyping
N/A
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina), FISH
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
qPCR, Taqman assay
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
aCGH (Nimblegen 3x720K or Agilent 2x400K)
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13a_DD_discovery_cases
NA
N/A
N/A
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
aCGH (Agilent hotspot 2x400K)
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
golzio_12_ASD_discovery_cases
NA
MLPA, aCGH
ABI 3730xl DNA Analyser (MLPA), custom Nimblegen array (aCGH)
GeneMarker Software Trial Version 1.91 (MLPA), Nimblescan software v2.6
qPCR, aCGH
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
None
kino_12_ASD_discovery_cases
Caucasian
aCGH
BACs aCGH
FISH, qPCR
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kumar_08_ASD_discovery_cases
North American
aCGH
FISH, microsatellite analysis, aCGH
kumar_08_ASD_replication_cases
North American
qPCR
FISH, microsatellite analysis, aCGH
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
lengyel_20_ASD/DD/ID_discovery_cases
Hungarian
aCGH
NimbleGen Array CGX 1.4M, Agilent 60K, Agilent 180K
NimbleGen MS 200 Microarray Scanner, Agilent Genomic Workbench v.7.0, Agilent Genomic Workbench Lite
FISH, qPCR, PCR
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
qPCR
levkova_21_DD/EP_discovery_cases
Bulgaria
aCGH
OGT CytoSure ISCA v.2 4x44K
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mak_17_ASD_discovery_cases
Chinese
aCGH
NimbleGen CGX-135K or Agilent-CGX 60K
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mccarthy_09_ASD_discovery_cases
aCGH, array SNP
ROMA 85K, Nimble HD2, Affymetrix 500K
aCGH (Nimble HD2)
mccarthy_09_BiP_discovery_cases
aCGH, array SNP
ROMA 85K, Nimble HD2, Affymetrix 5.0
aCGH (Agilent 244A), array SNP (Affymetrix 500K)
mccarthy_09_SCZ_discovery_cases
aCGH, array SNP
ROMA 85K, Nimble HD2, Affymetrix 500K
aCGH (Nimble HD2, Agilent 244K)
mccarthy_09_SCZ_replication_cases
53.1% European American, 46.9% African American
Array SNP
Affymetrix 6.0
aCGH (Nimble HD2)
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
miyake_23_ASD_discovery_cases
Japan
Exome sequencing
Illumina HiSeq 2000/2500
NA
XHMM
qPCR
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
moreira_14_ASD/EP_discovery_cases
Ethnically-mixed Brazilian
MLPA
Array SNP
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
mulle_13_SCZ_discovery_cases_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
Solid phase hybridization
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
pebrel-richard_13_DD_discovery_cases
France
aCGH
Agilent 180K
ADM-2
Feature Extraction 10.5, DNA Analytics 4.0.76
FISH
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
posar_20_ASD/DD/ID_discovery_cases
Caucasian/Italy
aCGH
NA
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
raca_12_CAS_discovery_cases
NA
aCGH
Roche NimbleGen custom-designed array, Agilent 180K custom array
NimbleScan, SignalMap
FISH
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
qRT-PCR, aCGH
reinthaler_14_EP_replication_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
qRT-PCR
repnikova_19_ASD/DD/ADHD_discovery_cases
N/A
aCGH, array SNP
Roche NimbleGen 135K, Agilent CGH+SNP 135K, OGT 4x180K ISCA v2, Affymetrix Cytoscan HD
Agilent CGH analytics v.3.4.40, Agilent Feature Extraction v.9.5.1, Agilent DNA Analytics v.4.0.91,
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
schaefer_10_ASD_discovery_cases
FISH
aCGH
schuch_19_ASD_discovery_cases
European
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
None
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stobbe_13_ASD_discovery_cases
N/A
aCGH
NimbleGen CGX-3v1.0
ADM-1
NimbleScan 2.5, DNA Analytics 4.0
None
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
CMA, karyotyping, and/or MLPA
szelest_21_ASD/DD/ID/EP_discovery_cases
Poland
CMA, MLPA
CytoScan 750K
CMA, MLPA
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
qPCR
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
tiwari_12_EP_discovery_cases
NA
Solid phase hybridization
Illumina 610Quad
SVS
Illumina BeadStudio, SVS
None
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
tuncay_22_ASD_discovery_cases
Predominantly Middle Eastern, South Asian, and European
WGS
Illumina HiSeq X
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
van_den_bossche_12_BPD_discovery_cases
264 from Belgium, 305 from Sweden, 107 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_ID_discovery_cases
Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_MDD_discovery_cases
Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_SCZ_discovery_cases
170 from Belgium, 543 from Sweden, 568 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
wallace_18_ASD_discovery_cases
Caucasian
FISH
Array SNP, MIP
weiss_08_ASD_discovery_cases
Array SNP
Affymetrix 5.0
COPPER, Birdseye
Affymetrix CNAT v.4.0
MLPA
weiss_08_ASD_replication_cases
Icelandic
Solid phase hybridization
HumanHap300 BeadChip
HMM
weiss_08_DD/MR/ASD_replication_cases
aCGH
Agilent 244K
ADM-2
CGH Analytic Software v3.4
MLPA, FISH
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
woodbury_smith_23_ASD/DD/ID_discovery_cases
Canada
CMA, WGS
Affymetrix CytoScan, Illumina HiSeq X
ChAS, iPattern, Nexus, Partek
NA
RT-PCR (Taqman)
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
yu_11_ASD_discovery_cases
NA
aCGH
Agilent 244K
Nexus V5
None
yu_11_nonASD_discovery_cases
NA
aCGH
Agilent 244K
Nexus V5
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
ahn_13_SCZ_discovery_controls
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
beunders_13_DD/ID/ASD_discovery_controls
NA
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Illumina 240K-650K, Agilent 105K/185K
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
crepel_11_ASD_discovery_controls
qPCR
Roche LightCycler 480
LightCycler 480 SW 1.5
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
fernandez_10_ASD_discovery_controls
Array SNP, solid phase hybridization
Affymetrix 500K, Affymetrix 6.0, Illumina 1M BeadChip
dChip, CNAG, GEMCA, Birdsuite, Partek Genomics Suite, Affymetrix Genotyping Console, Quanti-SNP, Penn CNV, iPattern
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
golzio_12_ASD_discovery_controls
NA
MLPA
ABI 3730xl DNA Analyser (MLPA)
GeneMarker Software Trial Version 1.91
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kumar_08_ASD_discovery_controls
North American
aCGH
FISH, microsatellite analysis, aCGH
kumar_08_ASD_replication_controls
North American
qPCR
FISH, microsatellite analysis, aCGH
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
larson_17_ASD_discovery_controls
N/A
N/A
N/A
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
mccarthy_09_SCZ_discovery_controls
aCGH, array SNP
ROMA 85K, Nimble HD2, Affymetrix 500K
Affymetrix 500K
mccarthy_09_SCZ_replication_controls
59.6% European American, 40.4% African American
Array SNP
Affymetrix 6.0
aCGH (Nimble HD2)
mulle_13_SCZ_discovery_controls_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
None
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
Sanger sequencing
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
van_den_bossche_12_BPD_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_ID_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_MDD_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_SCZ_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
weiss_08_ASD_discovery_controls
Array SNP
Affymetrix 500K
COPPER
Affymetrix CNAT v.4.0
weiss_08_ASD_replication_controls
Icelandic
Solid phase hybridization
HumanHap300 BeadChip
HMM
weiss_08_DD/MR/ASD_replication_controls
aCGH
Agilent 244K
ADM-2
CGH Analytic Software v3.4
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
ahn_13_SCZ_discovery_cases-NSB_ID2011
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
29863614
30308986
445373
GRCh38
Duplication
Yes
ahn_13_SCZ_discovery_cases-NSB_ID676
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
29584162
30188484
604323
GRCh38
Duplication
Yes
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case09DG00498
N/A
N/A
Developmental delay
Developmental delay, failure to thrive, right radial ray defect with pedunculated thumb, wide-based gait (Chr16p11.2 microdeletion syndrome). Non-consanguineous parents.
Developmental delay
29611436
30166595
555160
GRCh38
Deletion
No
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2239
N/A
M
Developmental delay
Speech and gross motor delay, oromotor dyspraxia, failure to thrive, post axial polydactyly of left hand, poor dentition (Chr16p11.2 microdeletion syndrome). Non-consanguineous parents.
Developmental delay
29683670
30179355
495686
GRCh38
Deletion
No
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0756
N/A
M
Developmental delay
Developmental delay with morbid obesity, acanthosis nigricans, and clinodactyly (Chr16p11.2 microdeletion syndrome). Non-consanguineous parents.
Developmental delay
29617340
30166595
549256
GRCh38
Deletion
No
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case37
10 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: birth weight < 3rd %ile, length < 3rd %ile, OFC 10th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Motor and musculoskeletal evaluation: club feet. Behavioral/psychiatric evaluation: ASD. Additional medical history: testicular ectopia, renal duplication. Dysmorphic features: delayed dental eruption. Family history: father's phenotype was not reported.
Learning disabilities
31962947
33715100
1752154
GRCh38
Duplication
No
asadollahi_14_NDD_discovery_cases-case64717
6 yrs.
F
Developmental delay
Developmental delay, overgrowth
29676124
30119232
443109
GRCh38
Duplication
Yes
badar_22_DD_discovery_cases-caseTwinA
3.5 yrs.
F
Developmental delay
Birth/neonatal history: premature birth (36 weeks gestation), delivery by C-section; birth weight 1.984 kg. Developmental milestones: failure to meet developmental milestones first noted at approximately 6 months of age; walking and talking not yet achieved at 17 months. Language and communication evaluation: 10-15 word vocabulary, speech not completely clear. Motor and musculoskeletal evaluation: short fifth fingers, appendicular hypotonia, walking with SMO braces. Behavioral/psychiatric evaluation: spells of decreased attentiveness at 17 months; Telemedicine Autistic Spectrum Disorder Assessment for Children (TELE-ASD-PEDS) score of 7 (cut-off for risk of autism is equal to or greater than 11). EEG: mild encephalopathy. Brain imaging: normal MRI and angiography. Additional medical history: moderate secundum atrial septal defect, mild pulmonary stenosis, ventricular septal defect, 2 hospitalizations for bronchiolitis, tibia fracture. Dysmorphic features: epicanthus, thin upper lip, micrognathia, faint vascular birthmark on left forehead. Growth parameters: microcephaly (head circumference <3rd %ile) with normal height and weight (both 25th %ile). Family history: similarly affected fraternal twin sibling who also carried the 16p11.2 homozygous duplication; their mother presented with ADHD, split personality disorder, bipolar disorder, schizophrenia, and a requirement for special education for math as part of her educational history, while their father had a history of heart murmur and asthma; their sibling had a history of heart murmur; two paternal half-siblings presented with developmental delay (neither carried a 16p11.2 duplication); one maternal half-sibling presented with ADHD and compulsive disorder, while the other presented with heart murmur; a maternal aunt presented with schizophrenia and bipolar disorder, and a maternal uncle presented with ADHD, schizophrenia, and bipolar disorder.
Score of 57 on VABS Adaptive Behavior Composite Score, Third Edition (normal, 85-115).
29555973
30106486
550514
GRCh38
Homozygous duplication
No
badar_22_DD_discovery_cases-caseTwinB
3.5 yrs.
M
Developmental delay
Birth/neonatal history: premature birth (36 weeks gestation), delivery by C-section; birth weight 2.438 kg. Developmental milestones: failure to meet developmental milestones first noted at approximately 6 months of age; using "mama" and "dada" and not walking at 17 months. Language and communication evaluation: 2-4 word phrases, 20-25 words. Motor and musculoskeletal evaluation: short fifth fingers, increased tone in the arms (more than in legs), brisk reflexes in all extremities, able to run using SMO braces. Behavioral/psychiatric evaluation: Telemedicine Autistic Spectrum Disorder Assessment for Children (TELE-ASD-PEDS) score of 6 (cut-off for risk of autism is equal to or greater than 11). Brain imaging: evidence of hydrocephalus ex vacuo, suggestive on mild periventricular white matter loss, on brain MRI. Dysmorphic features: epicanthus, broad nasal bridge, micrognathia, vascular birthmark on left forehead. Growth parameters: head circumference 5th %ile, height and weight 10th-25th %ile. Family history: similarly affected fraternal twin sibling who also carried the 16p11.2 homozygous duplication; their mother presented with ADHD, split personality disorder, bipolar disorder, schizophrenia, and a requirement for special education for math as part of her educational history, while their father had a history of heart murmur and asthma; their sibling had a history of heart murmur; two paternal half-siblings presented with developmental delay (neither carried a 16p11.2 duplication); one maternal half-sibling presented with ADHD and compulsive disorder, while the other presented with heart murmur; a maternal aunt presented with schizophrenia and bipolar disorder, and a maternal uncle presented with ADHD, schizophrenia, and bipolar disorder.
29555973
30106486
550514
GRCh38
Homozygous duplication
No
bartnik_12_EP_discovery_cases-case10
NA
F
Epilepsy
Age of onset of epilepsy: 17 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy. Parental phenotype: normal.
Normal IQ
29613442
30186020
572579
GRCh38
Duplication
No
bassuk_13_ID/EP_discovery_cases-case1
N/A
M
Intellectual disability and epilepsy
Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected sister (bassuk_13_ID/EP_discovery_cases-case2) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 16p11.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.
Intellectual disability; Stanford-Binet IQ: 60
29581178
30281178
700001
GRCh38
Deletion
No
bassuk_13_ID/EP_discovery_cases-case2
N/A
F
Intellectual disability and epilepsy
Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected brother (bassuk_13_ID/EP_discovery_cases-case1) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 16p11.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.
Intellectual disability; Stanford-Binet IQ: 64
29581178
30281178
700001
GRCh38
Deletion
No
bassuk_13_ID/EP_discovery_cases-case3
N/A
F
Intellectual disability and epilepsy
Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: two affected children (bassuk_13_ID/EP_discovery_cases-case1 and bassuk_13_ID/EP_discovery_cases-case2), both of whom inherited 16p11.2 deletion; reportedly unaffected parents (mother negative for 16p11.2 deletion, father N/A).
Intellectual disability; Stanford-Binet IQ: 80
29581178
30281178
700001
GRCh38
Deletion
No
bena_13_ASD/DD/ID_discovery_cases-case20
12 yrs.
M
Developmental delay
Language delay, normal growth and OFC
29581178
30281178
700001
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case17
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
28822115
29034963
212849
GRCh38
Duplication
No
brandler_18_ASD_discovery_cases-caseMT_86.3
N/A
M
ASD
Case from REACH cohort
29540630
30209129
668500
GRCh38
Deletion
Yes
breckpot_16_ID/catatonia_discovery_cases-case4
N/A (adult)
F
Intellectual disability and catatonia
Case met DSM-5 criteria for catatonia (symptoms included waxy flexibility, posturing, mannerisms, stereotypies, echolaila, rigidity, ambitendence, perseveration, resistance, and tremor). Behavioral/psychiatric evaluation: schizophrenia. Epilepsy/seizures: epilepsy. Dysmorphic features: brachycephaly, relative macrocrania, hypertelorism, broad face, wide mouth, double hair whorl. Additional medical history: dolichocolon, neuro-syphilis, parkinsonism, acoustic neuroma left.
Moderate intellectual disability (IQ 55)
29581470
30182285
600816
GRCh38
Duplication
No
bremer_11_ASD_discovery_cases-case5
6
M
ASD
Syndromic ASD, sporadic case
IQ>70
29581462
30321260
739799
GRCh38
Duplication
Yes
bremer_11_ASD_discovery_cases-case6
14
M
ASD
Non-syndromic ASD, sporadic case
MR (IQ<70)
29581462
30321260
739799
GRCh38
Duplication
Yes
calderoni_20_ASD_discovery_cases-caseP20
11 yrs.
F
ASD
ADOS module 3 evaluation: Social Affect score 3, Restricted and Repetitive Behaviors score 5, Calibrated Severity Score 3. Language and communication evaluation: verbal.
IQ > 70
29662633
30186020
523388
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11378
NA
M
ASD
NA
NA
32665436
33492657
827222
GRCh38
Duplication
Yes
chan_22_ASD_discovery_cases-case3-0133-000
NA
F
ASD and developmental delay
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Developmental milestones: normal early motor milestones with speech delay. Dysmorphic features: decreased upper segment/lower segment ratio, smooth philtrum. Growth parameters: height 5th %ile, weight <5th %ile, low body mass index (13.8). Family history: mother with 16p11.2 duplication does not have ASD.
29431680
30295679
864000
GRCh38
Duplication
No
chan_22_ASD_discovery_cases-case3-0269-000
NA
M
ASD
Case diagnosed with autism spectrum disorder at 3 years 2 months (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: premature birth (born at 28+3 weeks gestation), umbilical hernia requiring repair noted at birth. Language and communication evaluation: non-verbal at 6 years 7 months. Motor and musculoskeletal history: spastic cerebral palsy diagnosed at 14 months. Dysmorphic features: frontal cowlick with double hair whorl, tall broad forehead, ocular hypertelorism, hypoplastic midface, anteverted nares, smooth philtrum, wide mouth, posteriorly rotated ears, clinodactyly of fifth fingers. Growth parameters: body mass index 14.9 (25th-50th %ile). Family history: mother does not have ASD but does have intellectual disability (full scale IQ 60 with core language skills at the 1st %ile) and high body mass index (32.5 at 37 years).
29552480
30188679
636200
GRCh38
Deletion
No
chan_22_ASD_discovery_cases-case3-0406-000
NA
M
ASD
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: premature birth (born at 28+1 weeks gestation), resuscitated at birth, intubated for four days and on dopamine infusion for three days, stayed in NICU for the first four weeks of life, very large patent ductus arteriosus noted at birth (failed attempts at medical closure, surgically ligated at 4.5 weeks). Developmental milestones: no early motor delay, single words with meaning at 5 years followed by usage of sentences by 6 years. Dysmorphic featues: brachycephaly, left palpebral fissure shorter and narrower than right with ocular hypertelorism, low-set ears, small congenital hemangioma of the back. Family history: his mother was mosaic for the 16p11.2 deletion (25%-30% in blood) and presented with bipolar disorder and anxiety disorder.
29568480
30279679
711200
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case15
N/A
M
ASD and developmental delay
Developmental delay and autism. Family history: affected brother with same phenotype and 16p11.2 deletion.
28677764
29032542
354779
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case16
N/A
M
ASD and developmental delay
Developmental delay and autism. Family history: affected brother with same phenotype and 16p11.2 deletion.
28677764
29377174
699411
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case296
N/A
M
Developmental delay, intellectual disability, and epilepsy
Obesity, convulsions, developmental delay, speech and/or language delay or impairment, learning difficulties, intellectual disability, epilepsy and hypoglycemia
Intellectual disability and learning difficulties
29568699
30165187
596489
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case41
NA
M
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
29641677
30186020
544344
GRCh38
Deletion
No
chen_17_ASD_discovery_cases-caseU-2233
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 22 (past score 24); Qualitative abnormalities in verbal and nonverbal communication, current score 17 (past score 22); Qualitative abnormalities in nonverbal communication, current score 8 (past score 11); Restricted, repetitive, and stereotyped patterns of behaviour, current score 8 (past score 9); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 101; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 38. Epilepsy: history of febrile convulsion but ceased medication after episodes.
Performance IQ 69, Verbal IQ 89, Full-scale IQ 79
29580436
30180574
600139
GRCh38
Duplication
Yes
christian_08_ASD_discovery_cases-AU0154303
NA
F
ASD
NA
NA
29552129
30140497
588369
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU029803
NA
F
ASD
NA
NA
29552129
30140497
588369
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU041905
NA
F
ASD
NA
NA
29552129
30255621
703493
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU0938301
NA
M
ASD
NA
NA
29552129
30140497
588369
GRCh38
Deletion
Yes
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
33601661
33829351
227691
GRCh38
Deletion
No
ciuladaite_11_ASD/DD_discovery_cases-case1
7 yrs.
F
Developmental delay
Speech problems: severely delayed speech development, delayed expressive language skills (vocabulary & articulation). Behavioral features: emotional difficulties (hyperactivity). Slight pectus excavatum. Joint hypermobility. Dysmorphic features: broad high forehead, prominent lower lip. Growth parameters: height, 127.5 cm (75th %ile); weight, 15.5 kg (<3rd %ile); head circumference, 50 cm (25th %ile). Family history: proband is only child born to healthy consanguineous parents (parents are half-siblings), mother had learning difficulties and expressive language problems, grandmother suffered from psychiatric disorder
Wechsler Intelligence Scale for Children, 3rd. Ed. (WISC-III) scores: verbal, 77; performance, 75; full-scale, 74.
29645163
30187432
542270
GRCh38
Deletion
Yes
ciuladaite_11_ASD/DD_discovery_cases-case2
4 yrs. 7 mos.
M
Autism
Stereotypical behavior, autistic features. Poor neonatal feeding and prolonged jaundice. Psychomotor development delay & hypertonia noted at 3 mos. Sat alone at 8 mos., walked alone at 15 mos. Severely delayed language development. Mild hypotonia. Dysmorphic features: dolichocephaly, low set & rotated ears, down-slanting asymmetrically-sized palpebral fissures, depressed nasal bridge, thin nares, high palate, thick lower lip, open mouth appearance, prominent mandible, narrow thorax, pectus carinatum, clinodactyly of 5th finger & 2nd toes, gap between 1st and 2nd toes. Hypermetropia. Frequent upper respiratory tract infections. Family history: proband is third child born to healthy non-consanguineous parents, two healthy sisters.
Developmental delay.
29645163
30187432
542270
GRCh38
Deletion
Yes
crepel_11_ASD_discovery_cases-case1
18 yrs at evaluation
M
ASD
Formal ASD with deficit in 3 domains, SRS core of 128, severe interference in social everyday interactions, head circumference of 56.6 cm
Total IQ=97, verbal IQ=95, performance IQ=99; highest level of education was secondary school
29834114
29952404
118291
GRCh38
Deletion
Yes
crepel_11_ASD_discovery_cases-case2
NA
ASD
NA
NA
600000
Unknown
Deletion
Yes
cucinotta_23_ASD_discovery_cases-case436
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R. EEG: sleep spindle asymmetry. Brain imaging: slight reduction in volume of the lower face of the right cerebellar hemisphere on the external side with greater salience of the horizontal fissure, inflammatory thickening of the mucous membrane of the maxillary sinuses, of some ethmoid cells, and of mastoid cells bilaterally.
29641677
30186020
544344
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU008404
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: trigonocephaly
34223359
34560001
336642
Unknown
Duplication
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
35233431
35519953
286523
GRCh38
Duplication
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
33082356
33994428
912073
GRCh38
Duplication
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
32012659
33010911
998253
GRCh38
Duplication
No
dell'edera_18_MCA_discovery_cases-case1
2 yrs.
F
MCA and dysmorphic features
Birth/neonatal history: born at 39 weeks gestation through C-section; birth weight 3.3 kg) and length (46 cm) within normal range; Apgar scores 6/8/9. Motor and musculoskeletal evaluation: reported fusion of D4 to D5 and D9 to D10 vertebral bodies; accentuation of proximal kyphosis with a tendency to reverse dorsal distal position; cervical hyperlordosis; conserved posterior metameric alignment. Brain imaging: modest non-homogeneous of the cerebral parenchyma most pronounced in the periventricular region and hyperechogenicity of streaked thalamus arteries observed on brain ultrasound. Cardiac evaluation: patent foramen ovale, slight pericardial effusion, and discrete thinning of the interventricular septum. Renal evaluation: left kidney renal pyelectasia or pyelectasis with "ballooned" aspect of pelvis as of suspscted joint pathy observed on renal ultrasound; left calico-pyelic statis (a little responsive to diuretic and orthostasis) and conserved but asymmetric parenchymal functionality (leading to reduction in left kidney functionality). Additional medical history: anorexia; slightly dehydrated appearance after medical examination. Dysmorphic features: brachycephaly, prominent forehead, frontal bossing, slight midface hypoplasia, hypertelorism, mildly downslanting palpebral fissures, synophrys, small nose, anteverted nares, deep-set nasal root, mild prognathism, deep-set and posteriorly rotated ears, full cheeks, prominent philtrum, open mouth appearance, cupid bowed upper lip, full lower lip, slightly protruding tongue. Growth parameters: poor height and weight development (weight of 5,910 kg and height of 67 cm); head circumference of 47 cm. Family history: proband born to non-consanguienous Italian parents; proband's mother presented with obesity, mild intellectual disability, and minor dysmorphic features.
29581430
30179272
597843
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_266890
N/A
M
Developmental delay/intellectual disability
29662633
30108438
445806
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299882
N/A
M
Developmental delay/intellectual disability
29662633
30187279
524647
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299883
N/A
F
Developmental delay/intellectual disability
29696052
30186020
489969
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299891
N/A
M
Developmental delay/intellectual disability
28531783
29122414
590632
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299967
N/A
F
Developmental delay/intellectual disability
29662633
30108438
445806
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300528
N/A
F
Developmental delay/intellectual disability
29662633
30108438
445806
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300531
N/A
F
Developmental delay/intellectual disability
29662633
30187279
524647
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300535
N/A
M
Developmental delay/intellectual disability
CNV was inherited from a parent affected with a similar or milder phenotype
29662633
30108438
445806
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300562
N/A
M
Developmental delay/intellectual disability
29662633
30187279
524647
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300563
N/A
F
Developmental delay/intellectual disability
29662633
30187279
524647
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300564
N/A
F
Developmental delay/intellectual disability
29662633
30187279
524647
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300573
N/A
F
Developmental delay/intellectual disability
29314324
30187279
872956
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300609
N/A
F
Developmental delay/intellectual disability
CNV was inherited from a parent affected with a similar or milder phenotype
28869960
28987636
117677
GRCh38
Duplication
Yes
du_21_ASD/DD/ID_discovery_cases-case313
8 yrs.
F
Epilepsy
Mixed receptive-expressive language disorder, epilepsy, language regression
29584161
30186830
602670
GRCh38
Duplication
No
du_21_ASD/DD/ID_discovery_cases-case488
14 yrs.
M
ASD
Congenital hypogonadotropic hypogonadism, micropenis, autism spectrum disorder
29584161
29722121
137961
GRCh38
Triplication
No
du_21_ASD/DD/ID_discovery_cases-case488
14 yrs.
M
ASD
Congenital hypogonadotropic hypogonadism, micropenis, autism spectrum disorder
29751767
30186830
435064
GRCh38
Triplication
No
egger_14_ASD_discovery_cases-case1
33 yrs.
M
Asperger syndrome
Case diagnosed with Asperger syndrome (subsequently confirmed; diagnostic tools N/A). Birth/neonatal history: born after uncomplicated pregnancy; normal birth weight and length (2730 g and 48 cm, respectively, 0 SD). Developmental milestones: normal; social withdrawal tendencies and disproportionate reactions to minor social stress, especially in novel and unstructured situtations, noted during early primary school years. Behavioral/psychiatric evaluation: autistic-like elements such as diminished social reciprocity, paucity of speech, poor pragmatic language, and enhanced sensory perception; marked motivational problems and recurrent mild depressive symptoms and/or ideas of reference necessitated several hospitalizations at age of 24-25 years; Minnesota Multiphasic Personality Inventory 2 Restructed Form (MMPI-2-RF) testing disclosed poor reality testing, marked feelings of distrust, and an anxious disposition with excessive worrying; profile suggested enhanced vulnerability to psychotic experiences. EEG: normal. Brain imaging: MRI and DAT-SPECT normal. Dysmorphic features: none reported. Growth parameters: length of 183 cm, weight of 80 kg. Family history: second son of non-consanguineous parents; healthy older brother; history of recurrent depression in mother, otherwise no family history of intellectual disability, congenital anomalies, or neuropsychiatric disorders.
High average intelligenece; Kaufman Adolescent and Adult Intelligence Test (KAIT) total IQ score of 112; undisturbed attention, memory, and executive functioning.
28450558
29417212
966655
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA136
10 yrs. (born 2004)
F
ASD
Diagnosis: Asperger syndrome. Co-morbidities/additional features: ADHD. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Normal IQ
28742130
29032554
290425
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1195_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33497153
33896324
399172
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13219_2413
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34006099
34120658
114560
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14018_380
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31990503
33810363
1819861
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14388_4970
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33497153
33951101
453949
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18153_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34006099
34120658
114560
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20089_1391001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29584162
30188484
604323
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case20127_4014001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29636021
30212040
576020
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2187_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31990503
33966841
1976339
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2204_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29547747
30228207
680461
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case2276_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34024926
34120658
95733
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3211_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29584162
30208204
624043
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3544_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29581036
30188484
607449
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3546_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33563814
33965705
401892
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3586_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34006099
34120658
114560
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4030_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29636021
30188484
552464
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case5068_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29584162
30208204
624043
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case5139_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32478126
33672693
1194568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5262_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29584162
30292027
707866
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case5277_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29661661
29704424
42764
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5359_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29636021
30276402
640382
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case5382_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28811452
29032129
220678
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5416_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32478126
33371260
893135
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8491_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33497153
33951101
453949
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8541_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33497153
33951101
453949
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8581_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34068162
34202080
133919
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case9619_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33497153
33951101
453949
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD386
3 yrs. 6 mos.
M
ASD
CARS score 43.5 (severe severity)
29568700
30167085
598386
GRCh38
Deletion
No
fedorenko_15_CAS_discovery_cases-case1
8 yrs.
M
Childhood apraxia of speech
SFARIbase ID 3062.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 200; intelligibility rating, 3; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 3; syllable repetition test (SRT) task 2 syllables raw score, 12; SRT task 3 syllables raw score, 4; SRT task 4 syllables raw score, N/A. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 6th %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 40th %ile; Bruininks-Oseretsky Test (BOT), 14th %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case10
9 yrs. 11 mos.
M
Speech delay
SFARIbase ID 3001.101. Limited verbal output for this inidividual precluded speech diagnosis. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 1st %ile; Peabody Picture Vocabulary Test (PPVT), 6th %ile; Test for Reception of Grammar (TROG), 1st %ile; rapid automatized naming (RAN), N/A; Bruininks-Oseretsky Test (BOT), N/A.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case11
16 yrs. 3 mos.
M
Speech delay
SFARIbase ID 3024.101. Limited verbal output for this inidividual precluded speech diagnosis. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, <0.1 %ile; Peabody Picture Vocabulary Test (PPVT), 0.5th %ile; Test for Reception of Grammar (TROG), 1st %ile; rapid automatized naming (RAN), N/A; Bruininks-Oseretsky Test (BOT), 1st %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case2
10 yrs. 11 mos.
M
Childhood apraxia of speech
SFARIbase ID 3199.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 150; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 88%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 2; syllable repetition test (SRT) task 2 syllables raw score, 16; SRT task 3 syllables raw score, 12; SRT task 4 syllables raw score, 8. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 27th %ile; Peabody Picture Vocabulary Test (PPVT), 77th %ile; Test for Reception of Grammar (TROG), 66th %ile; rapid automatized naming (RAN), 85.3 %ile; Bruininks-Oseretsky Test (BOT), 7th %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case3
8 yrs. 9 mos.
F
Childhood apraxia of speech
SFARIbase ID 3092.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 418; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 83%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, N/A; syllable repetition test (SRT) task 2 syllables raw score, N/A; SRT task 3 syllables raw score, N/A; SRT task 4 syllables raw score, N/A. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 37th %ile; Peabody Picture Vocabulary Test (PPVT), 16th %ile; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 92nd %ile; Bruininks-Oseretsky Test (BOT), 31st %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case4
6 yrs. 3 mos.
F
Childhood apraxia of speech
SFARIbase ID 3015.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 147; intelligibility rating, 4; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 4; syllable repetition test (SRT) task 2 syllables raw score, 9; SRT task 3 syllables raw score, 6; SRT task 4 syllables raw score, N/A. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 32nd %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 16th %ile; Bruininks-Oseretsky Test (BOT), 1st %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case5
5 yrs. 4 mos.
M
Childhood apraxia of speech
SFARIbase ID 3008.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 292; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 81%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 2; syllable repetition test (SRT) task 2 syllables raw score, 13; SRT task 3 syllables raw score, 5; SRT task 4 syllables raw score, 5. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 16th %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), N/A; Bruininks-Oseretsky Test (BOT), 1st %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case6
14 yrs. 8 mos.
M
Childhood apraxia of speech
SFARIbase ID 3023.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 145; intelligibility rating, 2; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 8; syllable repetition test (SRT) task 2 syllables raw score, 16; SRT task 3 syllables raw score, 13; SRT task 4 syllables raw score, 3. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 19th %ile; Peabody Picture Vocabulary Test (PPVT), 45th %ile; Test for Reception of Grammar (TROG), 16th %ile; rapid automatized naming (RAN), 97.8 %ile; Bruininks-Oseretsky Test (BOT), 99th %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case7
10 yrs. 10 mos.
M
Childhood apraxia of speech
SFARIbase ID 3036.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 219; intelligibility rating, 4; percent phenomes correct (PPC) conversation, 66%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 7; syllable repetition test (SRT) task 2 syllables raw score, 15; SRT task 3 syllables raw score, 15; SRT task 4 syllables raw score, 9. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, N/A; Peabody Picture Vocabulary Test (PPVT), 58th %ile; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 76th %ile; Bruininks-Oseretsky Test (BOT), 27th %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case8
8 yrs. 4 mos.
F
Childhood apraxia of speech
SFARIbase ID 3029.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 208; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 85%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 4; syllable repetition test (SRT) task 2 syllables raw score, 15; SRT task 3 syllables raw score, 11; SRT task 4 syllables raw score, 1. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 1st %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 48.5 %ile; Bruininks-Oseretsky Test (BOT), 31st %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
fedorenko_15_CAS_discovery_cases-case9
18 yrs. 1 mo.
M
Childhood apraxia of speech
SFARIbase ID 3014.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 180; intelligibility rating, 3; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 8; syllable repetition test (SRT) task 2 syllables raw score, 16; SRT task 3 syllables raw score, 18; SRT task 4 syllables raw score, 7. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 27th %ile; Peabody Picture Vocabulary Test (PPVT), 50th %ile; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 2nd %ile; Bruininks-Oseretsky Test (BOT), 12th %ile.
IQ 80
29638675
30188534
549860
GRCh38
Deletion
N/A
feliciano_19_ASD_discovery_cases-caseSP0002040
N/A
M
ASD
Family history: both parents are negative for ASD and unknown for other mental health diagnoses.
28825624
28990013
164390
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0003496
N/A
F
ASD
Family history: mother presents with ASD.
29679198
30188577
509380
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0009634
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
29679198
30187868
508671
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0012371
N/A
M
ASD
28825366
28990013
164648
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0030419
N/A
M
ASD
29679198
30187848
508651
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0040523
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
29679198
30188577
509380
GRCh38
Deletion
No
fernandez_10_ASD_discovery_cases-proband1
NA
F
ASD with cognitive delay
NA
Leiter 87; WISC performance IQ 78
555000
Unknown
Deletion
Yes
fernandez_10_ASD_discovery_cases-proband2
NA
M
ASD with anxiety disorder
NA
Leiter-R 93 (7 yr 5 month)
555000
Unknown
Deletion
Yes
fernandez_10_ASD_discovery_cases-proband3
NA
M
ASD with cognitive delay
NA
Leiter not testable at 4 yr 8 months
555000
Unknown
Deletion
Yes
fernandez_10_ASD_discovery_cases-proband4
NA
M
ASD with cognitive delay and anxiety disorder
NA
Leiter-R 74 (8 yr 7 months)
555000
Unknown
Duplication
Yes
fernandez_10_ASD_discovery_cases-proband5
NA
F
ASD with cognitive delay
NA
WISC-III (9 yr); FSIQ 54 (1%); PPVT=5 yr (at 9 years)
555000
Unknown
Duplication
Yes
fernandez_10_ASD_discovery_cases-proband6
26 months
F
Developmental delay
NA
Bayley Scales (21 months): low-average cognitive skills
555000
Unknown
Duplication
Yes
fetit_20_ASD_discovery_cases-case1
11 yrs.
F
Epilepsy/seizures and autistic features
Birth/neonatal history: large head circumference noted at birth. Motor and musculoskeletal evaluation: impaired mobility (imbalance, inward toeing while walking, frequent falls), hypermobility. Behavioral/psychiatric evaluation: autistic features (social difficulties; difficulties with change of routine; emotional attachment to objects; sensory difficulties; dislike of loud noises, music, or over-populated areas). Epilepsy/seizures: generalized idiopathic tonic-clonic epilepsy (onset at 6 months); absence seizures.
Delayed learning, memory retention problems (short-term and long-term)
29673953
30198600
524648
GRCh38
Deletion
No
fetit_20_ASD_discovery_cases-case2
5 yrs.
F
ASD and developmental delay
Birth/neonatal history: reported complications during pregnancy (maternal hemorrhage the night before due due, induced delivery the following day); low birth weight; supported in a temperature-controlled incubator. Developmental milestones: global developmental delay, speech delay, motor delay. Behavioral/psychiatric evaluation: diagnosed with ASD at 4 years; anxiety.
29634212
30199805
565594
GRCh38
Deletion
No
fetit_20_ASD_discovery_cases-case3
8 yrs.
M
ASD
Birth/neonatal history: low birth weight; slight microcephaly at birth; weight loss between 3-6 months; diagnosis of rickets between 6-10 months. Developmental milestones: social and emotional delay noted by age of 2 years. Language and communication evaluation: childhood apraxia of speech; severe language impairments. Motor and musculoskeletal evaluation: poor muscle tone; slight scoliosis. Behavioral/psychiatric evaluation: diagnosed with ASD around the age of 3 years; repetitive movements and verbal/phonetic tics triggered by calling his name between 4-5 years. Epilepsy/seizures: few episodes of febrile seizures (EEG showed no seizures and seizures resolved during childhood).
29567295
30177916
610622
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000007
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S10
N/A
28475371
28517842
42472
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000008
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S11
N/A
28817650
28836597
18948
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER257813
N/A
M
Developmental delay
Cleft palate; Micrognathia; Upslanted palpebral fissure; Obesity; Global developmental delay
29595216
30204303
609088
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260234
N/A
F
Developmental delay
Microcephaly; Global developmental delay; Joint hypermobility; Proportionate short stature; Delayed speech and language development
29977689
30026924
49236
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262872
N/A
F
Developmental delay
Global developmental delay; Specific learning disability; Constipation; Hypoplasia of dental enamel
29581461
30245907
664447
GRCh38
Duplication
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR404
7 yrs.
F
ASD, developmental delay and epilepsy
Clinical features: ASD, mild developmental delay. Age of seizure onset: 8 months. Epilepsy syndrome: West syndrome. Seizure types: infantile spasms, absence seizures.
Mild developmental delay
29584162
30186830
602669
GRCh38
Deletion
Yes
gai_11_ASD_replication_cases-AU002903
Autism
29554843
30316266
761424
Unknown
Duplication
No
gannon_11_ASD/DD_discovery_cases-patientR
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case503-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
28807708
29039870
232163
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si142
6
M
Autism
ADOS score: 4. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.
32511545
32593327
81783
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si145
15
M
Autism
ADOS score: 9. Vineland composite score: 70.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 37; Non-verbal IQ, 68.
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si155
13
M
Autism
ADOS score: 8. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 120; Non-verbal IQ, 93.
33577320
33707362
130043
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si16
11
M
Autism
ADOS score: 10. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 108; Non-verbal IQ, 100.
32254555
32641445
386891
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si162
7
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si162
7
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
32254555
32641445
386891
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si164
8
M
Autism
ADOS score: 9. Vineland composite score: 59.
Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 22; Non-verbal IQ, 43.
32254555
32641445
386891
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si167
15
M
Autism
ADOS score: 8. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 128; Non-verbal IQ, 118.
33543492
33623498
80007
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si173
10
M
Autism
ADOS score: 7. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
29578935
29700718
121784
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
29779323
30182585
403263
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
29627520
30210579
583060
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si177
10
M
Autism
ADOS score: 8. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.
33558649
33707362
148714
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si180
19
M
Autism
ADOS score: NA. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 129; Non-verbal IQ, 100.
33543492
33605436
61945
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si183
13
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
33543492
33604250
60759
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si184
10
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
33592037
33707362
115326
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si188
9
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 135; Verbal IQ, 134; Non-verbal IQ, 128.
33543492
33688604
145113
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si196
17
M
Autism
ADOS score: NA. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 118; Verbal IQ, 116; Non-verbal IQ, 117.
32562508
32632370
69863
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si209
13
M
Autism
ADOS score: 6. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
32445823
32641445
195623
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si21
9
F
Autism
ADOS score: 10. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 77; Non-verbal IQ, 85.
32289420
32641445
352026
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si222
16
F
Autism
ADOS score: 10. Vineland composite score: 45.
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 46; Non-verbal IQ, 19.
32254555
32641445
386891
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si224
11
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.
32475497
32641445
165949
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si225
11
F
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
32475201
32641445
166245
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si225
11
F
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
33543492
33717001
173510
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si226
12
M
Autism
ADOS score: 4. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
33543492
33681850
138359
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si226
12
M
Autism
ADOS score: 4. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
35241748
35543899
302152
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si228
10
M
Autism
ADOS score: 10. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 99; Verbal IQ, 89; Non-verbal IQ, 107.
32475502
32641445
165944
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si24
14
F
Autism
ADOS score: 10. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 102; Non-verbal IQ, 74.
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si245
10
M
Autism
ADOS score: 6. Vineland composite score: 72.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
29779323
30181241
401919
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si245
10
M
Autism
ADOS score: 6. Vineland composite score: 72.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
29642417
29700718
58302
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si245
10
M
Autism
ADOS score: 6. Vineland composite score: 72.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
29627520
30210579
583060
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si254
12
F
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
32469318
32619369
150052
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si254
12
F
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si266
13
M
Autism
ADOS score: 7. Vineland composite score: 55.
Moderate mental retardation/intellectual disability. Full-scale IQ, 52; Verbal IQ, 37; Non-verbal IQ, 59.
33605436
33968220
362785
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si273
14
M
Autism
ADOS score: 7. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 26; Non-verbal IQ, 39.
33623498
33677739
54242
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si3
8
M
Autism
ADOS score: 10. Vineland composite score: 110.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
33543492
33605436
61945
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si30
11
M
Autism
ADOS score: 8. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
33543492
33717001
173510
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si319
12
M
Autism
ADOS score: 8. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 93; Non-verbal IQ, 92.
32475201
32641445
166245
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si37
10
M
Autism
ADOS score: 8. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 115; Non-verbal IQ, 129.
33815190
33967045
151856
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si4
13
M
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
33543492
33613376
69885
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si55
18
M
Autism
ADOS score: 8. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 86; Non-verbal IQ, 92.
33569425
33635593
66169
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si65
11
M
Autism
ADOS score: 7. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 96; Non-verbal IQ, 74.
33638756
33732197
93442
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si68
16
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
32254555
32617078
362524
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si74
13
M
Autism
ADOS score: 9. Vineland composite score: 60.
Mild mental retardation/intellectual disability. Full-scale IQ, 60; Verbal IQ, 51; Non-verbal IQ, 66.
33543492
33717001
173510
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si78
17
M
Autism
ADOS score: 6. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 77; Non-verbal IQ, 89.
33588938
33681850
92913
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si80
6
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 87; Non-verbal IQ, 95.
33623498
33861147
237650
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si84
14
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.
29779323
30185584
406262
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si84
14
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.
29627520
30210579
583060
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si84
14
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.
29640428
29700718
60291
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case1087
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1088
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1089
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1090
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1091
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1092
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1093
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1094
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1095
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1096
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1097
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1098
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1099
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1100
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1101
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1102
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1103
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1104
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1105
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1106
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1107
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1108
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1109
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1110
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1111
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1112
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1113
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1114
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1115
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1116
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1117
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1118
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1119
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1120
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1121
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1122
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1123
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1124
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1125
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1126
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1127
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1128
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1129
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1130
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1131
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1132
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1133
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1134
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1135
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1136
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1137
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1138
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1139
NA
NA
Developmental delay
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1140
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1141
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1142
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1143
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1144
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1145
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1146
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1147
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1148
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1149
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1150
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1151
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1152
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1153
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1154
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1155
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1156
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1157
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1158
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1159
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1160
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1161
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1162
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1163
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1164
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1165
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1166
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1167
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1168
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1169
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1170
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1171
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1172
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1173
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1174
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1175
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1176
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1177
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1178
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1179
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1180
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1181
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1182
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1183
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1184
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1185
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1186
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1187
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1188
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1189
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1190
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1191
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1192
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1193
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1194
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1195
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1196
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1197
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1198
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1199
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1200
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1201
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1202
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1203
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1204
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1205
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1206
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1207
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1208
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1209
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1210
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1211
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1212
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1213
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1214
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1215
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1216
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1217
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1218
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1219
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1220
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1221
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1222
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1223
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1224
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1225
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1226
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1227
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1228
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1229
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1230
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1231
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1232
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1233
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1234
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1235
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1236
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1237
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1238
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1239
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1240
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1241
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1242
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1243
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1244
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1245
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1246
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1247
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1248
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1249
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1250
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1251
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1252
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1253
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1254
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1255
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1256
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1257
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1258
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1259
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1260
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1261
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1262
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1263
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1264
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1265
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1266
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1267
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1268
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1269
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1270
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1271
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1272
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1273
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1274
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1275
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1276
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1277
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1278
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1279
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1280
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1281
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1282
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1283
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1284
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1285
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1286
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1287
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1288
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1289
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1290
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1291
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1292
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1293
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1294
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1295
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1296
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1297
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1298
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1299
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1300
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1301
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1302
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1303
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1304
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1305
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1306
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1307
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1308
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1309
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1310
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1311
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1312
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1313
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1314
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1315
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1316
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1317
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1318
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1319
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1320
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1321
NA
NA
Developmental delay
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case21897
9 yrs. 1 mo.
F
Developmental delay
Behavioral problems: ADHD. Hypotonia. Mild pontine hypoplasia. Dysmorphic features: short forehead, epicanthal folds, broad nasal bridge. Growth parameters: weight 10th-25th %ile, height 50th-75th %ile, OFC +0.2 SD. Family history: not specified.
Developmental delay, IQ 83.
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case23022
4.5 mos.
M
Developmental delay
Borderline newborn screening, failure to thrive, altered mental status. Hypotonia. Borderline Chiari I, mild prominence of ventricular system, neonatal abstinence syndrome with seizure-like activity, tongue fasciculations. Dysmorphic features: irregular skull, high anterior hairline, frontal bossing, telecanthus, upslanting palpebral fissures, ptosis, blue sclera, flat nasal bridge, severe maxillary hypoplasia, short septum, deep and long philtrum, thick lips, wide mouth, high palate, protruding tongue, short neck. Congenital anomalies: hypertrophic cardiomyopathy, inguinal hernias. Other features: history of multiple prenatal exposures, suspected fatty acid oxidation defect. Growth parameters: weight <3rd %ile, height <3rd %ile, OFC <3rd %ile. Family history: maternal susbtance abuse.
Developmental delay
28811178
29041178
230001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case23022
4.5 mos.
M
Developmental delay
Borderline newborn screening, failure to thrive, altered mental status. Hypotonia. Borderline Chiari I, mild prominence of ventricular system, neonatal abstinence syndrome with seizure-like activity, tongue fasciculations. Dysmorphic features: irregular skull, high anterior hairline, frontal bossing, telecanthus, upslanting palpebral fissures, ptosis, blue sclera, flat nasal bridge, severe maxillary hypoplasia, short septum, deep and long philtrum, thick lips, wide mouth, high palate, protruding tongue, short neck. Congenital anomalies: hypertrophic cardiomyopathy, inguinal hernias. Other features: history of multiple prenatal exposures, suspected fatty acid oxidation defect. Growth parameters: weight <3rd %ile, height <3rd %ile, OFC <3rd %ile. Family history: maternal susbtance abuse.
Developmental delay
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case23391
8 yrs. 8 mos.
M
Developmental delay
ADHD, frustation. Normal tone. Dysmorphic features: brachycephaly, mild ptosis, cleft in columella, downturned mouth, dental crowding, high palate, low posterior hairline, short neck, hypoplastic pinnae, Darwin's tubercles. Congenital anomalies: iris colobomas. Growth parameters: weight >97th %ile, height 50th %ile, OFC 50th %ile. Family history: mother and father both have learning disability. Patient previously reported in Rosenfeld et al., 2010.
Mild global developmental delays, low-average cognition
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case23858
10 yrs.
M
Developmental delay
Encephalopathy. Global developmental delay, with greatest delays in speech. Behavioral problems: stereotypies, aggression, ADHD. Normal tone. Poor articulation. Seizures ar 2 years. Dysmorphic features: small pointed chin, large ears, high anterior hairline, frontal bossing, positional plagiocephaly. Other features: intrauterine growth retardation (IUGR). Growth parameters: weight 25th-50th %ile, height 25th-50th %ile, OFC unknown. Family history: mother and father both have learning disability; father also has stutter.
Global developmental delay
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case24333
1 yrs 3 mos.
M
Developmental delay
Hypotonia. Agenesis of corpus callosum, bilateral hearing loss, seizures. Dysmorphic features: round face, frontal bossing, epicanthal folds, hypertelorism, broad nose, shallow nasal bridge, micrognathia, preauricular pits. Congenital anomalies: atrial septal defect, inguinal hernias. Intrauterine growth retardation (IUGR). Growth parameters: weight 75th %ile, height 3rd-10th %ile. Family history: healthy parents.
Global developmental delay
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case26056
9 yrs. 8 mos.
M
ASD
Behavioral problems: ASD, aggression, ADHD. Normal tone. Dysmorphic features: hypertelorism, downslanting palpebral fissures, prominent nose and ears. Growth parameters: weight and height 50th-75th %ile, OFC -1.2 SD. Family history: brother has CHARGE (no duplications).
Global developmental delay
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case27819
3.5 yrs.
M
MCA
Normal tone. Bilateral hearing loss. Dysmorphic features: overfolded superior helices, epicanthal folds, grey sclera, narrow palate. Congenital anomalies: Langer mesomelic dysplasia with Madelung deformity. Growth parameters: height <3rd %ile, OFC normal. Family history: mother has Madelung deformity; father has Leri-Weill dyschondrosteosis.
NA
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case28324
10 yrs 9 mos.
M
PDD-NOS
Behavioral problems: PDD-NOS, delayed sleep, ADHD, aggression. Slightly decreased tone, apraxia. Dysmorphic features: small mouth, dental crowding, small pointed chin, malar hypoplasia, synophrys, long palpebral fissures, iris heterochromia, thickened ears, long philtrum, short nose, thin upper lip, short palate, nuchal webbing, low posterior hairline. Congential anomalies: narrow chest, prominent scapulae, slopping shoulders, thoracic kyphosis, valgus great toes. Growth parameters: weight 25th %ile, height 50th %ile, OFC 90th %ile. Family history: mother with depression; father with ADHD, depression, OCD, learning disability, and unusual speech; sister has ADHD; maternal and paternal history of psychiatric disorders. Patient previously reported in Rosenfeld et al., 2010.
Global developmental delay
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case29163
NA
NA
Developmental delay
Dysmorphic features
Developmental delay
28811178
29041178
230001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case34299
NA
NA
Developmental delay
Dysmorphic features, seizure disorder
Developmental delay
28811178
29041178
230001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case36479
10 yrs.
M
Developmental delay
Motor delay, poor speech, aggression. Normal tone. Dysmorphic features: midface hypoplasia, epicanthal folds, allergic shiners, Down syndrome-like features. Congenital anomalies: hypoplastic patellae, posterior iliac horns. Other features: strabismus. Growth parameters: weight <3rd %ile, height 5th %ile, normal OFC. Family history: mother has nail patella syndrome and intellectual disability (ID). Patient previously reported in Rosenfeld et al., 2012.
Developmental delay
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case36901
8 yrs. 11 mos.
F
Developmental delay
Behavioral problems: ADHD, mood swings. Normal tone, poor coordination, difficulty following directions. Dysmorphic features: high anterior hairline, frontal bossing, downslanting palpebral fissures, arched eyebrows, high palate. Congenital anomalies: pectus excavatum, 2-3 toe syndactyly. Other features: strabismus. Growth parameters: weight 90th %ile, height 75th %ile, OFC +2.3 SD. Family history: father and brother have bipolar disorder.
Global developmental delay
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case38700
2 mos.
F
Dysmorphic features
Failure to thrive. No developmental delay as of yet. Normal tone. Dysmorphic features: hypertelorism, long philtrum, broad nasal bridge, prominent antihelix, epicanthal folds, ptosis, bitemporal narrowing. Congenital anomalies: patent ductus arteriosus. Growth parameters: height <3rd %ile, OFC <3rd %ile. Family history: healthy parents; two sisters with learning disability, one with patent foramen ovale.
NA
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case39824
12 yrs.
F
Intellectual disability and ODD
Behavioral problems: oppositional defiant disorder (ODD), post-traumatic stress disorder (PTSD). Normal tone. Dysmorphic features: metopic prominence, hypertelorism, prominent nose with depressed columella, small hands. Failure to thrive. Growth parameters: weight 10th %ile, height 3rd-10th %ile, OFC -2.2 SD. Family history: mother with intellectual disability; maternal half-siblings with developmental delay.
Mild ID (IQ 68)
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case42267
NA
NA
Dysmorphic features
Dysmorphic features
NA
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case42275
NA
NA
Encephalopathy
Encephalopathy
NA
28811178
29041178
230001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case43001
NA
NA
ADD
Attention deficit disorder of childhood with hyperactivity, failure to thrive, microcephaly.
NA
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case43248
21 yrs.
F
Developmental delay
Slightly low tone. Dysmorphic features: small mouth, low-set ears, low posterior hairline, cranium smaller fir size. Congenital anomalies: leg length discrepancy, PIP finger contractures, 2-3 toe syndactyly, scoliosis. Other features: psoriatic arthritis. Growth parameters: weight >97th %ile, height 3rd-10th %ile, OFC -1.9 SD. Family history: not specified.
Global developmental delays; mild ID
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case46810
NA
NA
Developmental delay
NA
Developmental delay
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case47954
4 yrs. 9 mos.
F
Developmental delay
Expressive language delay, special ed preschool. Hyperactivity. Normal tone. Dysmorphic features: mild jaw asymmetry. Congenital anomalies: subglottic stenosis, possible tracheolaryngealmalacia. Other features: required G-tube feedings. Growth parameters: weight 60th %ile, height 15th %ile, OFC 50th %ile. Famiyl history: healthy mother, maternal half-sister with cleft palate and short stature (carries 2p14 duplication and 15q24.2 duplication)
Developmental delay
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case49331
10.5 yrs.
M
ASD
Behavioral problems: ASD. Normal tone, poor balance. Dysmorphic features: facial asymmetry, laterally displaced inner canthi, wrinkled earlobes, long nasal root, frontal bossing, midface hypoplasia, small chin, prominent gums with large central incisors. Congenital anomalies: mild left ventricular hypertrophy, scoliosis requiring surgery, 2-3 toe syndactyly. Growth parameters: weight 75th-90th %ile, height 75th %ile, OFC 75th %ile. Family history: mother with possible scoliosis.
Global developmental delays, IQ in extremely low range with borderline performance and processing speed.
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case49557
NA
NA
Developmental delay
Feeding difficulty
NA
28811178
29041178
230001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case51237
8 yrs. 11 mos.
M
Developmental delay
Severe speech delays. Behavioral problems: fidgety and active. Normal tone. Dysmorphic features: long palpebral fissures, midface hypoplasia, prominent ears with absence of antihelical fold. Congenital anomalies: retinal coloboma, cleft palate with fistula. Growth parameters: weight 50th %ile, height 25th %ile, OFC +1.0 SD. Family history: father had learning disability; mother has seizures at 29 years; paternal family history of cleft palate.
Learning disability
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case51323
16 yrs.
M
Developmental delay
Speech delay. Behavioral problems: attention problems. Hypotonia. Dysmorphic features: triangular face, long nose, upslanting palpebral fissures, epicanthal folds, malar hypoplasia, retrognathia. Congenital anomalies: large ventricular septal defect, pulmonary valve stenosis, left pulmonary artery hypoplasia; restricted extension and pronation at knees and elbows; hypospadias; inguinal hernia. Other features: Raynaud's disease. Growth parameters: height 25th-50th %ile. Family history: father with tetralogy of Fallot (TOF).
Developmental delay and nonverbal learning disability
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case55326
NA
NA
MCA
Multiple congenital anomalies (MCA), dysmorphic features, bilateral hand contractures, bilateral clubfeet, growth delay
NA
28811178
29041178
230001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case5609
7 yrs.
M
PDD-NOS
Speech and motor delays. Behavioral problems: PDD-NOS, ADHD, outbursts, OCD-like. Mild hypotonia, apraxia, heat intolerance. Dysmorphic features: turricocephaly, midface hypoplasia, flat occiput, frontal bossing, boxy overfolded helices, low-set ears. Congenital anomalies: pectus excavatum. Other features: delayed closure of AF, suspected mitochondrial disorder. Growth parameters: weight 97th %ile, height 82nd %ile, OFC >97th %ile. Family history: healthy father; brother (not tested) has mitochondrial disease. Patient previously reported in Rosenfeld et al., 2010.
IQ 66
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case57872
NA
NA
Developmental delay
Hypotonia
Developmental delay
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case61119
9.5 mos.
F
Developmental delay
Motor delay. Behavioral problems: NA. Normal tone. Dysmorphic features: brachycephaly, midface hypoplasia, downturned mouth, low-set ears, long and tapered fingers, abnormal thumb. Congenital anomalies: scoliosis, unilateral renal agenesis. Growth parameters: weight <3rd %ile, height 3rd-10th %ile, OFC 25th-50th %ile. Family history: not specific (adopted).
NA
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case66870
11 mos.
F
Developmental delay
Global developmental delay. Mixed low and high tone. Staring/jerking spells when excited. Dysmorphic features: low-set ears, broad nasal bridge, high palate, hypertelorism. Congential anomalies: sacral dimple. Other features: early teeth eruption. Growth parameters: height 3rd-10th %ile, OFC -2.2 SD. Family history: mother and brother have bipolar disorder; brother also has ADHD.
Global developmental delay
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case67970
2 yrs. 4 mos.
M
Developmental delay
Hypotonia. Epilepsy. Dysmorphic features: epicanthal folds, short downslanting palpebral fissures, small ears, bulbous nose, smooth philtrum, thin upper lip, synophrys, high palate, small mouth. Congenital anomalies: bilateral ectrodactyly, ventricular septal defect, imperforate anus, hypospadias, small testes. Other features: strabismus, prenatal cocaine exposure. Growth parameters: height <3rd %ile, weight <3rd %ile, OFC -4.8 SD. Family history: mother with addiction problems; father incarcerated.
Global developmental delay; 22 month level at 27 months of age.
29641178
30191178
550001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case9460
22 yrs.
F
Intellectual disability and epilepsy
Hypotonia. Epilepsy. Hypernasal speech. Dysmorphic features: downslanting palpebral fissures, low-set rotated ears, frontal bossing, downturned mouth, unerupted teeth. Other features: strabismus, familial adenomatous polyposis. Growth parameters: weight >97th %ile, height 10th-25th, OFC 50th-75th %ile. Family history not specified. Patient previously reported in Heald et al.
Mild ID
29641178
30191178
550001
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11090.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11433.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11540.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11629.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12010.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12308.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12417.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12435.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12736.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13335.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13487.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13491.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13509.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14004.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
30042325
30055855
13531
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14023.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
29506178
30356178
850001
GRCh38
Duplication
Yes
girirajan_13a_DD_discovery_cases-DDcase210
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase211
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase212
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase213
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase214
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase215
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase216
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase217
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase218
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase219
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase220
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase221
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase222
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase223
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase224
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase225
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase226
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase227
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase228
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase229
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase230
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase231
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase232
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase233
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase234
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase235
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase236
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase237
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase238
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase239
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase240
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase241
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase242
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase243
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase244
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase245
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase246
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase247
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase248
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase249
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase250
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase251
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase252
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase253
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase254
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase255
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase256
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase257
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase258
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase259
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase260
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase261
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase262
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase263
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase264
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase265
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase266
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase267
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase268
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase269
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase270
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase271
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase272
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase273
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase274
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase275
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase276
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase277
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase278
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase279
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase280
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase281
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase282
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase283
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase284
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase285
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase286
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase287
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase288
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase289
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase290
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase291
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase292
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase293
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase294
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase295
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase296
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase297
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase298
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase299
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase300
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase301
N/A
N/A
Developmental delay
N/A
N/A
29506178
30356178
850001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-10007107879
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
35241748
35649178
407431
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-12308109510
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
35174307
35510473
336167
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-15008109638
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
33688604
33760944
72341
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-15910112885
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
35241748
35649178
407431
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-16709111253
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
32488913
32593327
104415
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-20008109910
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
33645076
33763715
118640
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-20604100546
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
35241748
35649178
407431
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21707108167
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
33765215
33993056
227842
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-22505104145
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
33613376
33683958
70583
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25209111475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
32488913
32592656
103744
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-25804100823
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
33765210
33905595
140386
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28309111551
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
32488913
32575304
86392
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28506106267
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
33765210
33993056
227847
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-31008110295
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
32309484
32458117
148634
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-31008110295
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
33688594
33738972
50379
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-3309110754
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
32553992
32641445
87454
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-40406106815
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
33577320
33707362
130043
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-42506106873
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
33807175
33993056
185882
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-45905104126
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
32254555
32375969
121415
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-46805104136
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
32488913
32594236
105324
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-49906107136
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
33645076
33707362
62287
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-51604101884
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
33765210
33828607
63398
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-52904101932
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
33613376
33681850
68475
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-57804101558
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
32522764
32641445
118682
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-60504102200
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
33805667
33968220
162554
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-62005104652
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
33805667
34026578
220912
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-65004102035
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
33765210
33993056
227847
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-708108819
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
32522764
32641445
118682
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-8203100466
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
28705946
29161447
455502
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-1108_004
NA
ASD
NA
NA
29636022
30166486
530465
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-13798_65634
NA
ASD
NA
NA
29636022
30166486
530465
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-15301_69339
NA
ASD
NA
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-6989_42225
NA
ASD
NA
NA
29636022
30166486
530465
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-71-001-07C64102A
NA
ASD
NA
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU002903
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU002905
NA
F
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU011004
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU0154302
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU0154303
NA
F
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU029803
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU032704
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU032705
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU032706
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU032707
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU041905
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU0938301
NA
M
ASD
Autism
NA
29636022
30166486
530465
GRCh38
Deletion
Yes
golzio_12_ASD_discovery_cases-case1
NA
NA
Autism
Diagnosis of autism based on meeting ADOS diagnostic criteria.
NA
28741178
29101178
360001
GRCh38
Deletion
Yes
golzio_12_ASD_discovery_cases-case1
NA
NA
Autism
Diagnosis of autism based on meeting ADOS diagnostic criteria.
NA
NA
NA
9000
NCBI36
Deletion
Yes
golzio_12_ASD_discovery_cases-case2
NA
NA
ASD
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_cases-case3
NA
NA
ASD
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_cases-case4
NA
NA
ASD
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_cases-case5
NA
NA
ASD
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_cases-case6
NA
NA
ASD
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_cases-case7
NA
NA
ASD
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_cases-case8
NA
NA
ASD
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
NA
NA
NA
118000
NCBI36
Duplication
No
golzio_12_ASD_discovery_cases-case9
NA
NA
ASD
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
NA
NA
NA
118000
NCBI36
Duplication
No
griswold_12_ASD_discovery_cases-case17416
NA
NA
ASD/autism
NA
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
griswold_12_ASD_discovery_cases-case3574
NA
NA
ASD/autism
NA
NA
29636022
30166486
530465
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case7740
NA
NA
ASD/autism
NA
NA
29636022
30166486
530465
GRCh38
Duplication
Yes
guo_17_ASD_discovery_cases-caseM8302
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
32171226
33530119
1358894
GRCh38
Duplication
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-125-03
N/A
M
ASD
FSIQ 85, NVIQ 89, VIQ 85
29549401
30188600
639200
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-187-03
N/A
M
ASD and epilepsy
Epilepsy
29437001
30197800
760800
GRCh38
Duplication
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-313-04
N/A
M
ASD
FSIQ 84, NVIQ 84, VIQ 89
29442601
30197000
754400
GRCh38
Duplication
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-354-03
N/A
M
ASD and intellectual disability
Intellectual disability (FSIQ 54, NVIQ 59, VIQ 56)
29574601
30189000
614400
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-378-03
N/A
M
ASD and intellectual disability
Intellectual disability (FSIQ 68, NVIQ 74, VIQ 63)
29551601
30188600
637000
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-398-03
N/A
M
ASD and intellectual disability
Intellectual disability (FSIQ 70, NVIQ 62, VIQ 94)
29540001
30188600
648600
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-428-03
N/A
M
ASD and intellectual disability
Visual impairment
Intellectual disability (FSIQ 72, NVIQ 69, VIQ 78); learning disability
28811001
29038200
227200
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-473-03
N/A
M
ASD
GI problems
FSIQ 81, NVIQ 91, VIQ 69
29538801
30188600
649800
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case15D2762
3 yrs. 10 mos.
M
Developmental delay/Intellectual disability
Speech delay
29340505
30166486
825982
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case19D0355
7 mos. 3 days
M
Developmental delay
Hypothyroidism, muscle weakness in the neck and extremities, poor response, inability to open one's eyes
29579757
30165919
586163
GRCh38
Duplication
No
husson_20_ASD_discovery_cases-case392
7 yrs.
M
ASD and intellectual disability
Diagnosis of ASD
Intellectual disability
29662950
30187223
524274
GRCh38
Deletion
Yes
husson_20_ASD_discovery_cases-case405
11 yrs.
M
ASD
Diagnosis of Asperger syndrome
29662950
30187223
524274
GRCh38
Duplication
Yes
hu_22_ASD_discovery_cases-case3
NA
M
ASD
Case met criteria for ASD using DSM-5.
29790717
30189076
398360
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI0624
NA
NA
Autism
NA
NA
29636021
30119172
483152
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI0899
NA
NA
Autism
NA
NA
28826194
29032129
205936
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI2466
NA
NA
Autism
NA
NA
29636021
30082859
446839
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI2467
NA
NA
Autism
NA
NA
29644543
30166486
521944
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI2997
NA
NA
Autism
NA
NA
29401182
30166486
765305
GRCh38
Deletion
Yes
jiao_19_EP/DD/ID_discovery_cases-caseDD18005592
6 mos.
Male
Epilepsy/seizures
Epilepsy/seizures: seizures. EEG: EEG abnormality. Additional medical history: ventricular septal defect, mitral regurgitation, patent foramen ovale, episodic tachypnea, acute respiratory tract infection.
29560601
30200601
640001
GRCh38
Deletion
No
jiao_19_EP/DD/ID_discovery_cases-caseDD18010938
11 mos.
Male
Epilepsy/seizures
Epilepsy/seizures: seizures.
28598193
29032667
434475
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000129
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000189
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000193
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000349
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29227272
30179247
951976
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000377
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000482
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000735
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000853
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000854
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000893
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000966
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000999
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001037
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001070
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001109
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001114
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29227272
30321260
1093989
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001119
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001136
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001155
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001162
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001201
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001236
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001284
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001581
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28710478
29025786
315309
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001630
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29566440
30187279
620840
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001646
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29566441
30187279
620839
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001652
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28710478
29025786
315309
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001658
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28456967
30295107
1838141
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001719
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28710478
29025786
315309
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001727
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29600893
30187279
586387
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001732
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29844610
30187279
342670
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001793
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28293803
29531653
1237851
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001910
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30359229
30570499
211271
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001919
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29829840
30183432
353593
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002059
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28843308
29025786
182479
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002075
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002093
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002101
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28366111
30183432
1817322
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002110
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28592408
29025786
433379
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002124
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28599237
29025786
426550
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002126
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28599237
29025786
426550
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002140
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002190
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002219
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002231
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002263
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29663527
30183432
519906
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002346
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002355
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29441012
30323310
882299
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002365
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29441012
30183432
742421
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002377
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29441012
30183432
742421
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002387
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002407
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28843308
29025786
182479
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002428
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30323310
677948
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002448
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29829840
30183432
353593
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002473
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29663527
30183432
519906
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002475
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28599237
29025786
426550
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002480
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28843308
29025786
182479
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002512
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28531783
30183432
1651650
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002519
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28531783
29025786
494004
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002559
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29808232
30162533
354302
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002658
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30162533
581072
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002694
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29653208
30162533
509326
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002701
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29653208
30162533
509326
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002727
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29653208
30162533
509326
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002766
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28813473
28981076
167604
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002770
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30321260
739799
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003775
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28850210
29019738
169529
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003785
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003806
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29441012
30183432
742421
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003830
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30321260
658628
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003842
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003861
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29227272
30321260
1093989
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003917
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662433
30179388
516956
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003922
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003932
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28850210
29019738
169529
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004002
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29170820
30179247
1008428
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004036
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29086504
30333716
1247213
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004099
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29227072
30179388
952317
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004127
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30187279
524647
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004177
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004199
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004218
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28843308
29025786
182479
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004243
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662433
30179388
516956
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004290
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662635
30187279
524645
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004293
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004300
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662635
30186020
523386
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004319
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004330
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004391
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004416
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004448
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29227072
30179388
952317
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004479
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662635
30187279
524645
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004490
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662433
30179388
516956
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004500
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662635
30108438
445804
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004505
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28826129
29030797
204669
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004507
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004509
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004529
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662433
30179388
516956
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004541
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29441012
30323310
882299
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004566
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004589
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29227272
30179247
951976
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004593
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29645363
30183432
538070
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004684
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29837647
30179388
341742
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004773
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004782
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004787
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28061312
28584375
523064
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004788
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004888
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662433
30179388
516956
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004890
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662433
30179388
516956
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004904
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179388
516756
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004925
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662433
30179388
516956
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004944
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004946
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004953
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662433
30179388
516956
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004992
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662635
30108438
445804
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005018
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581462
30179247
597786
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005026
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28599237
29025786
426550
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005041
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28492482
30179247
1686766
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005094
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28850210
29019738
169529
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005099
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29170620
30179388
1008769
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005107
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29227072
30179388
952317
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005113
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28589904
29030797
440894
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005125
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29227272
30179247
951976
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005153
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30187279
524647
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005219
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662433
30179388
516956
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005264
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29662633
30179247
516615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005300
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29581262
30179388
598127
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005363
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28826129
29030797
204669
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005434
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29227072
30179388
952317
GRCh38
Duplication
Yes
kim_18_DD/ID_discovery_cases-case14
18 yrs.
F
Intellectual disabilty
Dysmorphic features, macrocephaly, diabetes mellitus, obesity, abnormal behavior. Sister of patient 15 in this report.
Severe intellectual disability
29568699
30165187
596489
GRCh38
Deletion
No
kim_18_DD/ID_discovery_cases-case15
32 yrs.
F
Intellectual disabilty
Dysmorphic features, macrocephaly, obesity, mood disorder. Sister of patient 14 in this report.
Severe intellectual disability
29568699
30166595
597897
GRCh38
Deletion
No
kino_12_ASD_discovery_cases-case1
7 yrs.
M
ASD
Diagnosis of ASD at 3 years of age. Birth/neonatal history: born at 33 weeks of gestation by emergency C-section; birth weight, 1270 g; demonstrated ambiguous genitalia with small penis, bifid scrotum, undescended testes, and hypospadias at birth (underwent orcheopexy and further genitoplasty at 2 years of age). Biochemical evaluation: elevated levels of morning serum cortisol (not suppressed by dexamethsome), plasma ACTH, and serum TSH; serum concentrations of LH, FSH, dehydroepiandrosterone, dehydroepiandrosterone-sulfate, and free and total testerone within normal range. Dysmorphic features: dolichocephaly, hypertelorism, micropenis, small underdeveloped scrotum. Growth parameters: height, 111 cm (25th-50th %ile); weight, 17.2 kg (10-25th %ile).
Developmental delay
29600000
30700000
1100000
Unknown
Deletion
Yes
krumm_13_ASD_discovery_cases-case11090.p1
N/A
M
ASD
ASD proband from SSC quad family 11090. SRS score of 83.
Full-scale IQ (FSIQ) score of 56.
29663728
30188576
524849
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11229.p1
N/A
M
ASD
ASD proband from SSC quad family 11229. SRS score of 73.
Full-scale IQ (FSIQ) score of 63.
31465849
31477576
11728
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11433.p1
N/A
M
ASD
ASD proband from SSC quad family 11433. SRS score of 89.
Full-scale IQ (FSIQ) score of 78.
29796892
30188576
391685
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11629.p1
N/A
M
ASD
ASD proband from SSC quad family 11629. SRS score of 90.
Full-scale IQ (FSIQ) score of 50.
29663728
30188576
524849
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12100.p1
N/A
M
ASD
ASD proband from SSC quad family 12100. SRS score of 90.
Full-scale IQ (FSIQ) score of 71.
29663728
30188576
524849
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12308.p1
N/A
F
ASD
ASD proband from SSC quad family 12308. SRS score of 90.
Full-scale IQ (FSIQ) score of 105.
29663728
30188576
524849
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12736.p1
N/A
M
ASD
ASD proband from SSC quad family 12736. SRS score of 85.
Full-scale IQ (FSIQ) score of 101.
29453632
30201293
747662
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13509.p1
N/A
F
ASD
ASD proband from SSC quad family 13509. SRS score of 89.
Full-scale IQ (FSIQ) score of 70.
29663728
30188087
524360
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11056.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
29871698
29878425
6728
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11090.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29663728
29803608
139881
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11090.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29813054
30188576
375523
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11229.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31465849
31477576
11728
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11433.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29663728
29697411
33684
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11433.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29813054
30188576
375523
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11490.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29814332
29817007
2676
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11555.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
29663728
30188576
524849
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12100.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
30025182
30188576
163395
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12100.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29663728
29926033
262306
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12100.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29977772
30010222
32451
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12220.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31465849
31477576
11728
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12308.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
30025182
30188576
163395
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12308.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29663728
29926033
262306
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12417.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
29663728
30188576
524849
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12435.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29663728
30188576
524849
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12451.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29663728
30188576
524849
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12647.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29457631
30193793
736163
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13416.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
28825365
28990012
164648
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13487.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29663728
30188576
524849
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13509.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29663728
30188249
524522
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14023.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29663728
30188576
524849
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14117.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
28477736
28504050
26315
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14395.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
31465849
31477576
11728
GRCh38
N/A
Yes
kumar_08_ASD_discovery_cases-HI0624
4
M
ASD
NA
NA
29681178
30281178
600001
GRCh38
Deletion
Yes
kumar_08_ASD_discovery_cases-HI0646
NA
M
ASD
NA
NA
29681178
30281178
600001
GRCh38
Deletion
Yes
kumar_08_ASD_replication_cases-HI0128
NA
ASD
NA
NA
29681178
30281178
600001
GRCh38
Duplication
Yes
kumar_08_ASD_replication_cases-HI2466
14
M
ASD
NA
NA
29681178
30281178
600001
GRCh38
Deletion
Yes
kumar_08_ASD_replication_cases-HI2467
12
F
ASD
NA
NA
29681178
30281178
600001
GRCh38
Deletion
Yes
kumar_08_ASD_replication_cases-HI2997
9
M
ASD
NA
NA
29681178
30281178
600001
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0195
7 yrs.
M
ASD, ADHD
Behavioral/psychiatric evaluation: ADHD. Family history: negative.
IQ > 70
29640511
30184960
544450
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD0311
26 yrs.
M
ASD
Behavioral/psychiatric evaluation: mood disorders. Family history: negative.
IQ > 70
29553914
30184960
631047
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD0416
11 yrs.
F
ASD, ADHD
Behavioral/psychiatric evaluation: ADHD, poor emotional control. Family history: positive for epilepsy.
IQ > 70
29401125
30312960
911836
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD0503
14 yrs.
F
ASD, ADHD, ID
Developmental milestones: motor delay. Motor and musculoskeletal evaluation: motor coordination deficits. Behavioral/psychiatric evaluation: ADHD, mood disorders, manic episodes. Family history: positive for bipolar disorder (BPD).
Mild intellectual disability
29640511
30184960
544450
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD1005
23 yrs.
M
ASD, DD
Developmental milestones: language delay, motor delay. Family history: positive for intellectual disability (ID).
IQ > 70
29480853
30254620
773768
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0035
31 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 26 years of age (core symptoms include auditory hallucinations, persecutory delusions, negative symptoms). Brain imaging: pituitary adenoma on brain MRI. Family history: positive for schizophrenia (SCZ).
IQ > 70
28351819
29325073
973255
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0110
18 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 18 years of age (core symptoms include persecutory hallucinations). Physical comorbidities: subcutaneous tumor. Family history: negative.
IQ > 70
29640511
30184960
544450
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0818
47 yrs.
F
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 24 years of age (core symptoms include hallucinations, delusions, manic symptoms), mood symptoms. Physical comorbidities: hyperlipidemia. Family history: positive for schizophrenia (SCZ) and intellectual disability (ID).
Intellectual disability (IQ < 70)
29614026
30184960
570935
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0819
57 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 22 years of age (core symptoms include visual hallucinations, reference and persecutory delusions, blunted affect). Brain imaging: basal ganglia calcification on brain CT. Family history: negative.
IQ > 70
29627836
30184960
557125
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1010
56 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
29627836
30184960
557125
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2417
28 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
29480853
30254620
773768
GRCh38
Duplication
N/A
kushima_22_ASD_discovery_cases-caseASD0195
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
29640510
30184960
544451
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0311
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
29553913
30184960
631048
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0416
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
29401124
30312960
911837
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0503
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
29640510
30184960
544451
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD1005
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
29480852
30254620
773769
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0772
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
29480852
30186626
705775
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0110
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
29640510
30184960
544451
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0818
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
29614025
30184960
570936
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0819
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
29627835
30184960
557126
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1010
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
29627835
30184960
557126
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2417
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
29480852
30254620
773769
GRCh38
Duplication
Yes
laffin_12_CAS_discovery_cases-case2
3-6 yrs.
NA
CAS
Years of apraxia treatment: 1. Familial status: positive (one or more nuclear family members with a verbal trait disorder including speech disorder, language disorder, reading disorder, cognitive disability, or learning disability). Language impairment: impairments in language onset, comprehension, and expression. Motor impairment: impairment in oral-nonverbal motor assessment tasks.
No cognitive impairment
29612734
30181039
568306
GRCh38
Deletion
No
larson_17_ASD_discovery_cases-case100
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
32895002
33980805
1085804
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case101
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
32895002
33980805
1085804
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case102
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
32895002
33980805
1085804
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case99
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
32895002
33980805
1085804
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case11
17 yrs.
M
ASD and intellectual disability
ASD
Intellectual disability
29555974
30166595
610622
GRCh38
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case12
10 mos.
M
Developmental delay
Developmental delay, hypotonia, failure to thrive
29645871
30181026
535156
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case18
15 yrs.
F
Intellectual disability and seizures
Seizure, brain anomaly
Intellectual disability
32035200
34012080
1976881
GRCh38
Deletion
No
lengyel_20_ASD/DD/ID_discovery_cases-case10
N/A
M
ASD and ADHD
Case reported in DECIPHER database (DECIPHER ID 411577). Birth/neonatal history: born at term (40 weeks) with birth weight of 4500 grams and length of 56 cm; Apgar scores 9/10; clavicle fractures during delivery. Developmental milestones: motor delay. Language and communication evaluation: speech articulation difficulties. Motor and musculoskeletal evaluation: scoliosis; joint hypermobility; 2-3 toe syndactyly; clinodactyly of the fifth fingers. Behavioral/psychiatric evaluation: diagnoses of ASD and ADHD; impaired ability to form peer relationships, abnormal temper tantrums. Brain imaging: normal brain MRI. EEG: frontotemporal epileptic lesions. Hearing evaluation: sensorineural hearing impairment. Additional medical history: anal stensois, tracheal stenosis. Family history: mother and three brothers are dyslexic (one brother also has unilateral hearing impairment and unilateral renal hypoplasia).
31968680
34022533
2053854
GRCh38
Deletion
Yes
lengyel_20_ASD/DD/ID_discovery_cases-case3
3 yrs.
M
Developmental delay and intellectual disability
Case reported in DECIPHER database (DECIPHER ID 411594). Birth/neonatal history; born at 40 weeks gestation; oligohydramnios; birth weight 2860 grams, birth length 54 cm; Apgar scores 8/10; high-pitched cry; feeding difficulties due to severe muscular hypotonia. Developmental milestones: delayed speech and language development (expressive > receptive). Motor and musculoskeletal evaluation: polydactyly; gait imbalance; joint hypermobility; genu valgum; pes planus; single transverse palmar crease. Behavioral/psychiatric evaluation: impaired ability to form peer relationships. Additional medical history: mild conductive hearing loss. Dysmorphic features: blepharophimosis, small and low-set ears with abnormal morphology, single transverse palmar crease.
Intellectual disability
28711462
28813538
102077
GRCh38
Deletion
No
lengyel_20_ASD/DD/ID_discovery_cases-case4
2 yrs.
F
Developmental delay and intellectual disability
Case reported in DECIPHER database (DECIPHER ID 411578). Birth/neonatal history: delivery by caesarean section at 39 weeks following pregnancy complicated by maternal diabetes and impending fetal asphyxia; birth weight 5500 grams; Apgar score 7/8. Developmental milestones: developmental delay (motor delay, speech delay). Motor and musculoskeletal evaluation: generalized muscular hypotonia; small hands and feet; genu varum. Behavioral/psychiatric evaluation: polyphagia; impaired social interactions. Additional medical history: elevated serum triglyceride levels. Dysmorphic features: strabismus. Growth parameters: severe obesity (current BMI 45.7 kg/cm2). Family history: both parents were overweight.
Intellectual disability
28813481
29029250
215770
GRCh38
Deletion
Yes
lengyel_20_ASD/DD/ID_discovery_cases-case5
3 yrs.
M
Developmental delay and intellectual disability
Case reported in DECIPHER database (DECIPHER ID 411596). Birth/neonatal history: normal birth parameters and perinatal adaption; apneic epidoes and feeding difficulties in infancy. Developmental milestones: global developmental delay (motor delay, speech delay); lost ability to hold his head, roll over and crawl at 5 months. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: muscular hypotonia; muscle weakness; clinodactyly of the 3-5 toes bilaterally. Behavioral/psychiatric evaluation: abnormal temper tantrums, abnormal eating behavior, short attention span. Brain imaging: cerebral atrophy, ventriculomegaly. Additional medical history: transported to hospital at 5 months due to dehydration, generalized lymphoedema, hepatomegaly, fluctuations in consciousness, horizonal nystagmus, and mild facial asymmetry. Dysmorphic features: wide and depressed nasal bridge, epicanthus, high palate, facial asymmetry, low-set and protruding ears, frontal bossing. Family history: parents are healthy, but paternal grandmother and uncle have abnormal aggressive and impulsive behavior.
Intellectual disability
29609368
30179247
569880
GRCh38
Duplication
Yes
lengyel_20_ASD/DD/ID_discovery_cases-case6
N/A
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: born after 41 weeks of gestation; normal birth parameters and perinatal adaption (birth weight 3940 grams; Apgar scores 9/9). Developmental milestones: developmental delay (motor delay, speech delay). Motor and musculoskeletal evaluation: muscular hypotonia; joint hypermobility. Behavioral/psychiatric evaluation: autism. Dysmorphic features: prominent forehead, downslanted palpebral fissures, hypertelorism, sparse medial eyebrows, low-set and protruding ears, downturned corners of the mouth, dental caries. Family history: similarly affected brother who also has the 16p11.2 deletion (born to non-consanguineous parents); mother may have had a behavioral disorder.
Mild intellectual disability (IQ 61)
29613444
30188030
574587
GRCh38
Duplication
No
lengyel_20_ASD/DD/ID_discovery_cases-case7
N/A
M
ASD, DD, ID, and epilepsy/seizures
Birth/neonatal history: born at term (40 weeks); birth weight 3630 grams; Apgar scores 9/10; asymptomatic neonatal hypoglycemia. Developmental milestones: developmental delay (motor delay, speech delay). Motor and musculoskeletal evaluation: muscular hypotonia. Behavioral/psychiatric evaluation: autism, poor attention span, aggressive behavior. Epilepsy/seizures: epilepsy. Dysmorphic features: sparse medial eyebrows, hypertelorism, low-set and protruding ears, prominent forehead, downslanted palpebral fissures, micrognathia, strabismus. Family history: similarly affected brother who also has the 16p11.2 deletion (born to non-consanguineous parents); mother may have had a behavioral disorder.
Intellectual disability
29613444
30188030
574587
GRCh38
Duplication
No
lengyel_20_ASD/DD/ID_discovery_cases-case8
N/A
F
N/A
Reported to have had a behavioral disorder (has since died of cancer). CNV transmitted to two affected offspring (cases 6 and 7).
29613444
30188030
574587
GRCh38
Duplication
No
lengyel_20_ASD/DD/ID_discovery_cases-case9
9 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: born at 38 weeks gestation with normal parameters following a pregnancy complicated by hypertension (birth weight 2790 grams; Apgar scores 9/10); feeding difficulties in infancy. Developmental milestones: global developmental delay (motor delay, speech delay). Motor and muscloskeletal evaluation: brachydactyly. Behavioral/psychiatric evaluation: abnormal eating behavior, short attention span, impaired ability to form peer relationships, stereotypy (stereotypical hand movements, stereotypical body rocking), aggressive behavior. EEG: normal. Additional medical history: unilateral renal agenesis (structurally and functional normal solitary right kidney); encopresis up to 8 years of age. Growth parameters: obesity; BMI 27.8 kg/m2 (>97th %ile), height 10th %ile.
Mild intellectual disability (IQ 69)
29645363
30179247
533885
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU002903
N/A
M
ASD
29635679
30166679
531001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU011004
N/A
N/A
ASD
Raven's non-verbal IQ 110
29636021
30166486
530466
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU0154302
N/A
N/A
ASD
29636021
30166486
530466
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU041905
N/A
N/A
ASD
SRS total score 76
Raven's non-verbal IQ 108
29636021
30392537
756517
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU0938301
N/A
N/A
ASD
Raven's non-verbal IQ 80, PPVT 74
29636021
30166486
530466
GRCh38
Deletion
Yes
levkova_21_DD/EP_discovery_cases-case1
4 yrs.
F
Developmental delay, epilepsy/seizures, and stereotypy
Birth/neonatal history: born per vias naturales; birth weight 2900 grams, length 49 cm, head circumference 32 cm; Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Developmental milestones: motor delay (delayed ability to walk with walking at 18 months). Language and communication evaluation: not able to speak and communicated only with nonsensical speech sounds at 4 years. Motor and musculoskeletal evaluation: clinodactyly of the 2nd and 3rd fingers, pes equinovarus congenitus of the left foot, lack of coordination, unsteady gait. Behavioral/psychiatric evaluation: hyperactivity, stereotypic movements, attention deficit. Epilepsy/seizures: diagnosed with petit mal epilepsy at 2 years. Brain imaging: normal brain MRI. Additional medical history: foramen ovale and pulmonary stenosis found after birth; agenesis of the left kidney and compensatory hypertrophy of the right kidney. Dysmorphic features: craniosynostosis (coronal and sagittal), hypertelorism, epicanthus, depressed nasal bridge, wide nose, micrognathia, low-set ears, helix deformity of the right ear, single palmar crease on both hands. Growth parameters: microcephaly. Family history: abandoned by her biological mother around the age of 1 year and raised by foster parents.
29488930
30228746
739817
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11090.p1
NA
M
ASD
NA
NA
29640428
30188680
548253
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11433.p1
NA
M
ASD
NA
NA
29644857
30188680
543824
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11498.p1
NA
M
ASD
NA
NA
34963041
35198814
235774
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11540.p1
NA
M
ASD
NA
NA
29638272
30188680
550409
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11555.p1
NA
F
ASD
NA
NA
28117284
28257621
140338
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11555.p1
NA
F
ASD
NA
NA
29640428
30192374
551947
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11680.p1
NA
M
ASD
NA
NA
29640428
30272839
632412
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12010.p1
NA
F
ASD
NA
NA
29643337
30197294
553958
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12100.p1
NA
M
ASD
NA
NA
29653845
30290560
636716
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12435.p1
NA
M
ASD
NA
NA
29638272
30188680
550409
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12451.p1
NA
M
ASD
NA
NA
29653845
30192374
538530
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12647.p1
NA
M
ASD
NA
NA
29638272
30165353
527082
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12736.p1
NA
M
ASD
NA
NA
29662297
30193859
531563
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
33604300
33829363
225064
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
32135565
32623443
487879
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case161
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
29641166
30188392
547227
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case162
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
29584161
30188392
604232
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case163
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
29584161
30186830
602670
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case164
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
29636020
30152512
516493
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case44
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
28814283
29032129
217847
GRCh38
Deletion
No
mahjani_22_OCD/CTD_discovery_cases-case4
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD) at 24 years of age; case also presented with major depression, bulimia nervosa, and specific (isolated) phobias.
29636020
30197913
561894
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case112
13 yrs.
M
Developmental delay and intellectual disability
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Dysmorphic features: no reported dysmorphic features. Growth parameters: macrocephaly, short stature. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Mild intellectual disability
29662633
30187279
524647
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case113
3 yrs.
M
ASD and developmental delay
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: pes planus, single palmar crease. Behavioral/psychiatric evaluation: ASD. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: skin softness/joint laxity. Dysmorphic features: anteverted nares, posteriorly rotated ears with thick helices and uplifted lobes. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Not reported
28531783
29122414
590632
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case190
2 yrs.
M
Dysmorphic features and kidney malformations
Birth history: born at 39 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: syndactyly of the 2nd and 3rd toes. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: kidney malformations. Dysmorphic features: bulbous nasal tip. Growth parameters: macrocephaly, somatic overgrowth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Not reported
29662633
30187279
524647
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown46
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
28826129
29030797
204669
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown47
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
29662633
30187279
524647
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown48
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
29662633
30108438
445806
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown49
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
29662633
30187279
524647
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown50
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely pathogenic (VOUS-LP)
29662633
30187279
524647
GRCh38
Deletion
No
mak_17_ASD_discovery_cases-case2
18 mos.
M
ASD and developmental delay
Global developmental delay, ASD
28477170
29034963
557794
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0088-003
NA
F
ASD
RL/EL moderate delay, severe repetitive behavior, mild dysmorphism
IQ/LOF 82
29641167
30316996
675830
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-NA0133-000
NA
F
ASD
Moderate language delay and speech unintelligibility, mild repetitive behavior, early motor delay
IQ/LOF moderate delay
29641167
30166486
525320
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0019-004
NA
M
ASD
Moderate speech unintelligibility, severe repetitive behavior, mild dysmorphism
IQ/LOF 93
29641167
30316996
675830
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0102-004
NA
M
ASD
RL/EL severe delay, moderate speech unintelligibility and dysmorphism, severe repetitive behavior, epilepsy
IQ/LOF 39
432600
NCBI35
Duplication
Yes
mccarthy_09_ASD_discovery_cases-AU002903
15.46
M
ASD
Weight: 69.40 kg; height: 179.07 cm (CDC Z-score 0.92, Farkas Z-score 0.86); OFC: 54.8 cm (CDC Z-score -0.13, Farkas Z-score -0.99)
Ravens IQ, 90
29640189
30137018
496830
GRCh38
Duplication
Yes
mccarthy_09_ASD_discovery_cases-AU011004
11.04
M
ASD
OFC: 53.5 cm (CDC Z-score 0.20, Farkas Z-score -0.14)
Ravens IQ, 110
29611438
30178709
567272
GRCh38
Duplication
Yes
mccarthy_09_ASD_discovery_cases-AU0154302
NA
M
ASD
NA
NA
29611438
30119373
507936
GRCh38
Deletion
Yes
mccarthy_09_ASD_discovery_cases-AU029803
NA
M
ASD
NA
NA
29615180
30116409
501230
GRCh38
Deletion
Yes
mccarthy_09_ASD_discovery_cases-AU032704
NA
M
ASD
NA
Ravens IQ, 75
29687304
30089001
401698
GRCh38
Duplication
Yes
mccarthy_09_ASD_discovery_cases-AU041905
7.96
M
ASD
Weight: 24.49 kg; height: 124.46 cm (CDC Z-score -0.61, Farkas Z-score -0.02); OFC: 54 cm (CDC Z-score 1.26, Farkas Z-score 1.32)
Ravens IQ, 108
29611438
30295635
684198
GRCh38
Deletion
Yes
mccarthy_09_ASD_discovery_cases-AU0938301
14
M
ASD
OFC: 56.5 cm (CDC Z-score 1.23, Farkas Z-score 1.06)
NA
29611438
30093041
481604
GRCh38
Deletion
Yes
mccarthy_09_ASD_discovery_cases-CG20261
5
F
ASD
Height: 157.48 cm (CDC Z-score -0.95, Farkas Z-score -0.76); OFC: 51.5 cm (CDC Z-score 0.84, Farkas Z-score -0.18)
NA
29641964
30118489
476526
GRCh38
Deletion
Yes
mccarthy_09_ASD_discovery_cases-JS-2100-3
NA
M
ASD
NA
NA
29641964
30118489
476526
GRCh38
Duplication
No
mccarthy_09_BiP_discovery_cases-2201-0
21
M
Bipolar disorder
Delusions, thought disorder, grandiose or manic symptoms
NA
29534536
30333489
798954
GRCh38
Duplication
Yes
mccarthy_09_BiP_discovery_cases-6023_9
17
F
Bipolar disorder
Grandiose or manic symptoms, family history
NA
29641167
30166486
525320
GRCh38
Duplication
Yes
mccarthy_09_BiP_discovery_cases-8026_1
27
F
Bipolar disorder
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, grandiose or manic symptoms, no family history
NA
29641167
30166486
525320
GRCh38
Duplication
Yes
mccarthy_09_BiP_discovery_cases-F440_4
16
M
Bipolar disorder
Grandiose or manic symptoms, no family history
NA
29641167
30007179
366013
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-03C15536
27
F
Schizophrenia
Delusions, thought disorder, hallucinations, grandiose or manic symptoms, negative symptoms
NA
29641167
30166486
525320
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-03C15581
62
M
Schizophrenia
Delusions, thought disorder, hallucinations, grandiose or manic symptoms, negative symptoms. Weight: 99.79 kg; height: 185.42 (CDC Z-score 1.04; Farkas Z-score 1.09)
NA
29641167
30166486
525320
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-03C15896
44
M
Schizophrenia
Delusions, thought disorder, hallucinations, grandiose or manic symptoms, negative symptoms, family history. Weight: 58.06 kg; height: 182.88 (CDC Z-score 0.71, Farkas Z-score 0.78)
NA
29661882
30166486
504605
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-03C18520
23
M
Schizophrenia
Weight: 96.16 kg; height: 175.26 (CDC Z-score -0.25, Farkas Z-score -0.17)
NA
29641167
30007179
366013
GRCh38
Deletion
Yes
mccarthy_09_SCZ_discovery_cases-19326A3
25
M
Schizophrenia
Disorganized or catatonic behavior, grandiose or manic symptoms, family history
NA
29641167
30308986
667820
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-19328A3
22
F
Schizophrenia
Delusions, thought disorder, disorganized or catatonic behavior
NA
29641167
30166486
525320
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-19328G5
19
M
Schizophrenia
Delusions, negative symptoms, no family history
NA
29641167
30007179
366013
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-2011
8
F
Schizophrenia
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, family history, no grandiose or manic symptoms, no negative symptoms. Weight: 48.10 kg; height: 152.40 cm (CDC Z-score -1.44, Farkas Z-score -1.44); OFC: 54 cm (CDC Z-score -0.18, Farkas Z-score -0.13)
WISC performance IQ, 81
29738583
30316996
578414
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-676
10
F
Schizophrenia
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, grandiose or manic symptoms, negative symptoms, family history. Weight: 34.50 kg; height: 157.50 cm (CDC Z-score 0.00, Farkas Z-score 0.02); OFC: 52.5 cm (CDC Z-score -0.88, Farkas Z-score -0.94)
WISC performance IQ, 72
29733834
30166486
432653
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-AV-27-05
28
F
Schizoaffective Disorder
Family history
NA
29767869
30118489
350621
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-MC235
21
M
Schizophrenia
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, grandiose or manic symptoms, negative symptoms, family history
Estimated IQ, 80-90
29562597
30333489
770893
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-NWP-110-02
32
M
Schizophrenia
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms, family history
NA
29634955
30186758
551804
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_cases-OX-100-01
21
M
Schizophrenia
Delusions
NA
29362874
30288859
925986
GRCh38
Duplication
Yes
mccarthy_09_SCZ_replication_cases-1669
16
M
Schizophrenia
Delusions, hallucinations, disorganized or catatonic behavior, negative symptoms
NA
29569290
30180574
611285
GRCh38
Duplication
Yes
mccarthy_09_SCZ_replication_cases-37540
16
M
Schizophrenia
Delusions, thought disorder, hallucinations
NA
29239594
30119233
879640
GRCh38
Duplication
Yes
mccarthy_09_SCZ_replication_cases-37612
21
F
Schizophrenia
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms
NA
29555976
30295635
739660
GRCh38
Duplication
Yes
mccarthy_09_SCZ_replication_cases-38492
40
M
Schizophrenia
Delusions, thought disorder, hallucinations, negative symptoms
NA
29580069
30178709
598641
GRCh38
Duplication
Yes
mccarthy_09_SCZ_replication_cases-38499
15
F
Schizoaffective Disorder
Delusions, thought disorder, hallucinations, negative symptoms
NA
29580007
30180574
600568
GRCh38
Duplication
Yes
mccarthy_09_SCZ_replication_cases-40245
19
F
Schizophrenia
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms
NA
29506378
30180574
674197
GRCh38
Duplication
Yes
mccarthy_09_SCZ_replication_cases-40350
21
M
Schizophrenia
Delusions, thought disroder, hallucinations, disorganized or catatonic behavior, negative symptoms
NA
29569781
30139778
569998
GRCh38
Duplication
Yes
mccarthy_09_SCZ_replication_cases-40832
17
F
Schizophrenia
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms, family history
NA
29568701
30165188
596488
GRCh38
Duplication
Yes
mccarthy_09_SCZ_replication_cases-851
13
F
Schizoaffective Disorder
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms, family history
NA
29568701
30180574
611874
GRCh38
Duplication
Yes
miclea_22_DD/ID_discovery_cases-case149
NA
NA
Developmental delay and intellectual disability
Global developmental delay, short stature, deafness
Intellectual disability
29584161
30204300
620140
GRCh38
Duplication
No
miclea_22_DD/ID_discovery_cases-case61
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
28603921
29017584
413664
GRCh38
Duplication
No
miclea_22_DD/ID_discovery_cases-case91
NA
NA
Developmental delay and intellectual disability
Global developmental delay, language delay, dysmorphic features, obesity
Intellectual disability
29584161
30176355
592195
GRCh38
Deletion
No
miyake_23_ASD_discovery_cases-case11159
NA
F
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
29633329
30188525
555197
GRCh38
Duplication
Yes
monteiro_19_ASD_discovery_cases_case15
18 yrs.
M
ASD
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: present. Growth parameters: short stature, microcephaly. Family history: 16p11.2 duplication inherited from asymptomatic mother.
Normal (no intellectual disability)
28813473
29030797
217325
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case5
N/A
M
ASD and intellectual disability
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: none reported.
Intellectual disability
28813473
29030797
217325
GRCh38
Duplication
No
moreira_14_ASD/EP_discovery_cases-case4
21 yrs.
F
ASD
Language and communication evaluation: few words. Motor and musculoskeletal evaluation: restriction of extension, elbows and knees. Epilepsy/seizures: none. Other features: hyperlordosis. Dysmorphic features: epicanthus, short philtrum, thick lips. Growth parameters: height of 166 cm (50th-75th %ile), weight of 52 kg (10th-25th %ile), and head circumference of 54 cm (25th-50th %ile).
29685652
30180586
494935
GRCh38
Duplication
Yes
moreira_14_ASD/EP_discovery_cases-case5
17 yrs.
M
ASD
Developmental milestones: developmental delay/regression. Language and communication evaluation: few words. Epilepsy/seizures: none. Dysmorphic features: brachycephaly. Growth parameters: height of 165 cm (5th-10th %ile), weight of 48 kg (<3rd %ile), and head circumference of 55.5 cm (50th-75th %ile).
29506378
30180574
674197
GRCh38
Duplication
Yes
moreira_14_ASD/EP_discovery_cases-case6
9 yrs.
M
ASD
Language and communication evaluation: short phrases. Motor and musculoskeletal evaluation: hypotonia. Epilepsy/seizures: none. Dysmorphic features: none reported. Growth parameters: height of 148 cm (>97th %ile), weight of 36 kg (75th-90th %ile), and head circumference of 53 cm (25th-50th %ile).
29602174
30178709
576536
GRCh38
Duplication
Yes
moreira_14_ASD/EP_discovery_cases-case7
17 yrs.
M
ASD
Language and communication evaluation: short phrases. Motor and musculoskeletal evaluation: hypotonia. Epilepsy/seizures: none. Dysmorphic features: none reported. Growth parameters: height of 171 cm (25th %ile), weight of 49.6 kg (3rd-5th %ile), and head circumference of 56 cm (50th-75th %ile).
29390980
30215610
824631
GRCh38
Duplication
Yes
moreira_14_ASD/EP_discovery_cases-case8
5 yrs.
M
ASD
Language and communication evaluation: absent speech. Epilepsy/seizures: none. Dysmorphic features: deep set ears/prominent or large ears, epicanthus. Growth parameters: height of 113 cm (75th-90th %ile), weight of 19 kg (50th-75th %ile), and head circumference of 52 cm (75th %ile).
29506378
30180574
674197
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case111203
N/A
F
DCD/ADHD
Ancestry: European. Family history: maternal diagnosis DCD and reading disorder; paternal diagnosis unknown.
29570443
30188258
617816
GRCh38
Duplication
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8050_3
N/A
N/A
Schizophrenia
N/A
N/A
29580436
30178648
598213
GRCh38
Duplication
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8188_1
N/A
N/A
Schizophrenia
Family history: affected family member with 16p11.2 duplication (mulle_13_SCZ_discovery_cases-caseAJ_8188_2).
N/A
29417206
30291295
874090
GRCh38
Duplication
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8188_2
N/A
N/A
Schizophrenia
Family history: affected family member with 16p11.2 duplication (mulle_13_SCZ_discovery_cases-caseAJ_8188_1).
N/A
29627320
30057532
430213
GRCh38
Duplication
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8951_2
N/A
N/A
Schizophrenia
N/A
N/A
29417206
30166486
749281
GRCh38
Duplication
Yes
munnich_19_ASD_discovery_cases-case11
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
28531783
29122414
590632
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam1122Proband10785
19 yrs. 7 mos.
M
ASD
Developmental milestones: age of walking of <2 yrs, langauge delay. Epilepsy/seizures: yes (generalized). Neurological examination: hands shaking. Other features: GERD. Dysmorphic features: none. Growth parameters: height -0.5 SD, weight +1 SD, head circumference +2 SD.
ID (moderate-to-severe)
29622891
30316996
694106
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam1188Proband11385
7 yrs. 6 mos.
M
ASD
Developmental milestones: age of walking of <2.5 years, language delay. Epilepsy/seizures: none. Neurological examination: normal. Dysmorphic features: none. Growth parameters: height +1 SD, weight -2 SD, head circumference -2 SD.
ID
29622891
30188484
565594
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam845Proband10017
16 yrs. 3 mos.
M
ASD
Developmental milestones: age of walking at 17 months. Language and communication evaluation: normal language. Neurological examination: normal. Epilepsy/seizures: none. Other features: OCD. Dysmorphic features: enophtalmia, anteverted nostrils, bulbous nose. Growth parameters: height +0.5 SD, weight -0.5 SD, head circumference +1.5 SD.
ID (mild)
29636021
30316996
680976
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam885Proband9988
10 yrs. 2 mos.
M
ASD
Developmental milestones: age of walking of 12 months, language delay. Epilepsy/seizures: yes (temporal). Neurological examination: normal. Dysmorphic features: epicanthus. Growth parameters: height +1 SD, weight +3 SD, head circumference +1 SD.
No ID
29636021
30188484
552464
GRCh38
Duplication
No
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
29641678
30188030
546353
GRCh38
Deletion
No
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
32562487
32634639
72153
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251690
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: intellectual disability/developmental delay
Developmental delay/intellectual disability
28813457
29073455
259999
GRCh38
Deletion
N/A
o'roak_12_ASD_discovery_cases-case13335.p1
NA
F
ASD/Autism
Case also identified with de novo ACP2 and ZNF420 missense mutations. No additional clinical info available.
Low IQ. Non verbal IQ, 25
29584162
30188576
604415
GRCh38
Duplication
Yes
oikonomakis_16_ASD_discovery_cases-case40
5 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, strabismus, iris colobomata, atrial septal defect
29653208
30187279
534072
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case444
6 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: dolichocephaly, obesity
29641678
30187279
545602
GRCh38
Deletion
No
pebrel-richard_13_DD_discovery_cases-case1
16 yrs.
M
Developmental delay
Birth/neonatal history: uneventful pregnancy and delivery; birth weight -2 SD, length -0.5 SD, OFC -0.5 SD; neonatal hypotonia. Developmental milestones: able to hold head at 4 months, sitting along at 13 months, able to walk after 2 years; delayed speech development. Motor ans musculoskeletal evaluation: recently presented wth ataxia; suffered from severe fatigability. Behavioral/psychiatric evaluation: bulimic symptomatology; behavioral difficulties with aggressive crisis in case of frustration. Sleep disturbances: reported sleeping troubles with very early wake-up. Brain imaging: no anomalies on brain MRI. Vision and hearing: acute visual impairment with retinis pigmentosa and progressive visual loss appeared at age of 9 years; retinal examination showe pale optic disc with narrowing of vessels and bone spicular pigmentations in peripheral retina. Additional medical history: recently presented with peripheral neuropathy; chronic constipation. Dysmorphic features: gynecoid obesity with purple stretch marks on pelvic bones; no other dysmorphic features. Growth parameters: weight of 64.4 kg (+1 SD), height of 1.68 m (median) and head circumference of 55 cm (median) at 16 years of age. Family history: second child of non-consanguineous and healthy parents, with no relevant family history. Additional genetic evaluation: case also identified with paternally-inherited 1.02-kb deletion within the CLN3 gene (c.461_677del).
28480604
30179388
1698785
GRCh38
Deletion
Yes
pfundt_16_NDD_discovery_cases-case1
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: De novo 16p11.2 microdeletion syndrome
29302286
30353096
1050811
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case123
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 16p11.2-p12.2 microdeletion syndrome
29326346
30188250
861905
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case60
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: atypical 16p11.2 deletion
28317384
30261611
1944228
GRCh38
Deletion
Yes
pfundt_16_NDD_discovery_cases-case67
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: atypical de novo deletion 16p11.2-p12.2
28318994
28596481
277488
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case7
N/A
N/A
Non-NDD
Disease cohort: blindness. Description: 16p11.2-p12.2 microdeletion syndrome
29312349
30353096
1040748
GRCh38
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
N/A
M
ASD and intellectual disability
Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.
Severe intellectual disability
35218215
35492978
274764
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
N/A
M
ASD and intellectual disability
Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
Mild intellectual disability (TIQ score of 64); memory impairment
32562487
34158766
1596280
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case3211_003
NA
M
Autism
No language delay, height P97, head circumference P50, epicanthus, steepled palate, physical and neurological exam otherwise normal; 16p11.2 microduplication syndrome
Normal IQ
29584162
30208204
624043
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5068_3
NA
F
Autism
Language delay, motor delay, neurologic assessment negaNve, adherent ear lobes; 16p11.2 microdeletion syndrome, 50% mosaicism
Low average IQ
29584162
30208204
624043
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5139_3
NA
F
ASD
NA
NA
32478126
33672693
1194568
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5245_3
NA
M
Autism
Language delay, below average language (1%ile), apraxia, abnormal sleep EEG without seizures; born at 29 wks, intraventricular hemorrhage, mild cerebral palsy; alopecia areata, no dysmorphic features
Below average nonverbal IQ (<1%ile)
32396948
33194468
797521
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5262_4
NA
M
Autism
Anxiety symptoms, below average language (<1%ile), cleft palate, congenital diaphragmatic hernia, epilepsy, recurrent ear infections, short stature, alopecia in left parietal area, hypertelorism, epicanthic folds, small ears with curved pinnae, smooth philtrum, 5th finger clinodactyly, hyperextensibility, scoliosis; 16p11.2 microdeletion syndrome
Below average nonverbal IQ (4%ile)
29584162
30292027
707866
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5359_4
NA
M
Autism
Anxiety disorder, sleep disturbance, delayed early language development but average language abilities, obese, macrocephaly, dysmorphic features, 23 toe syndactyly, micropenis, hemivertebra (T10); brain CT normal; 16p11.2 microdeletion syndrome
Average IQ
29636021
30276402
640382
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5382_3
NA
M
ASD
NA
NA
28811452
29032129
220678
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5416_3
NA
F
ASD
NA
NA
32478126
33371260
893135
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5426_3
NA
M
ASD
NA
NA
33207121
33676809
469689
Unknown
Deletion
Yes
pinto_14_ASD_discovery_cases2-case20089_1391001
N/A
M
ASD
Autism on ADI-R and ADOS, no language delay, normal appearance, normal head circumference, normal reflexes and gait, no epilepsy. Family history: unaffected younger dizygotic twins (not tested). Father: SRS total 18; VIQ 106, PIQ 112, FSIQ 109, age at birth of child 23 y; diagnostic testing for hyperactivity as a child; head circumference 55.3 cm, height 181 cm. Mother: SRS total 28; VIQ 103, PIQ 120, FSIQ 112, age at birth of child 20 y; on SSRIs for OCD, speech problems, reports delayed language as a child, allergies; head circumference 54.5 cm, height 166 cm
Average IQ (90)
29584162
30188484
604323
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case20127_4014001
N/A
M
ASD
Autism on ADI-R and ADOS, delayed language, verbal, allergies, anxiety, depression, no dysmorphic features, head circumference 99%ile, possible visual saccades during a smooth pursuit eye task, normal reflexes, mildly uncoordinated when walking and running, no seizures. Family history: father with normal IQ (97), hearing problem present from childhood, and learning difficulties with reading requiring tutoring; no siblings.
Average IQ (92)
29636021
30212040
576020
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case2204_1
N/A
M
ASD
Atypical PDD/Asperger (autism on ADI-R, ASD on ADOS), verbal, overweight, no dysmorphic features, macrocephaly (+3.6 SD), myopia, no epilepsy, brain MRI normal. Family history: both parents unaffected; 3 unaffected paternal half-siblings (no DNA).
Vineland Adaptive Behavior Composite score 50
29547747
30228207
680461
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case3544_3
8 yrs. 4 mos.
M
ASD
ASD/PDD-NOS diagnosis, language delay, significant articulation and other language problems until at least age 8 y. Slightly low tone in limbs, some motor coordination difficulties. Bowel problems, delayed continence, bloating, foul-smelling stools; investigations found no explanation. No regression, no seizures. Family history: N/A.
Average verbal and performance ability (British Picture Vocabulary Scale at 8 y 4 mo: VIQ 88)
29581036
30188484
607449
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case4030_1
N/A
M
ASD
Autism (based on medical history and ADI-R), verbal with history of expressive language delay, ADHD, depression; history of recurring ear infections, sinus surgery at 4 y, no dysmorphic features. Family history: affected sibling (no CNV); mother with speech delay until age 4 and depression; father with academic difficulties, aloofness, and poor social judgment.
Average IQ (StanfordBinet at 4 y: FSIQ 90; WISC-III: VIQ 91, PIQ 80, FSIQ 84)
29636021
30188484
552464
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case4436_1
8 yrs. 8 mos.
M
ASD
ASD (ADI-R autism, ADOS not autism or ASD), no language delay (first words and phrases 15 mo), verbal. Family history: N/A.
WISC-IV at 8 y 8 mo: VIQ 95, PIQ 67, FSIQ 76
28802777
29038333
235557
GRCh38
Deletion
No
posar_20_ASD/DD/ID_discovery_cases-case1
12 yrs 10 mos.
M
ASD, developmental delay, intellectual disability, and epilepsy/seizures
Case met criteria for autism (ADOS-2 module 1). Birth/neonatal history: delivery by caesarean section due to breech presentation. Developmental milestones: language and motor delay; delayed ability to walk (17 months); first words at 12 months and first sentences at approximately 36 months. Language and communication evaluation: severe language impairment, echolalia, phonological alterations. Motor and musculoskeletal evaluation: clumsiness, toe-walking, stereotypies with upper limbs. Behavioral/psychiatric evaluation: deficits of social communication and social interaction, restricted and repetitive behaviors, interests or activities, sensory abnormalities, irritability, auto-aggressive behavior, hyperactivity, attention deficit, sleep disturbance (difficulty falling asleep, awakenings, nightmares, pavor nocturnus). Epilepsy/seizures: absence seizures since 7 years followed by clusters of myoclonic seizures at 9 years 8 months. EEG: mulitfocal (left parieto-temporal and right fronto-temporal) and diffuse paroxysmal abnormalities at 7 years 9 months; afterwards, only slow activities prevailing on the right and after on the left hemisphere. Brain imaging: dilated periventricular spaces in the left retrotrigonal white matter and at the junction between the anterior third and middle third of the corpus callosum. Dysmorphic feature: testicle retained. Growth parameters: head circumference ~25th %ile, weight ~25th %ile. Family history: affected sister (learning disability) and affected father (schizophrenia) with 16p11.2 duplication; the father's aunt also presented with schizophrenia.
Moderate intellectual disability (nonverbal IQ 40); severe learning disorder in reading, writing, and mathematics with good visual memory
29662633
30119784
457152
GRCh38
Duplication
No
posar_20_ASD/DD/ID_discovery_cases-case2
11 yrs.
F
Learning disability
Birth/neonatal history: normal. Developmental milestones: normal (walking at 12 months, first words at 13 months). Behavioral/psychiatric evaluation: hyperactivity, low frustration tolerance, sleep disturbance (restless sleep). Dysmorphic features: protruding ears. Growth parameters: head circumference ~50th %ile, weight ~50th %ile. Family history: affected brother (ASD and intellectual disability) and affected father (schizophrenia) with 16p11.2 duplication; the father's aunt also presented with schizophrenia.
Normal IQ (FSIQ 99); learning disabilities in reading, writing, and mathematics
29662633
30119784
457152
GRCh38
Duplication
No
posar_20_ASD/DD/ID_discovery_cases-case3
12 yrs. 10 mos.
M
Developmental delay, intellectual disability, and oppositional defiant disorder
Birth/neonatal history: twin pregnancy with threatened abortion; caesarean section for breech presentation at 35-36 weeks of gestation. Developmental milestones: language delay (first words at 36 months); walking at 15 months. Language and communication evaluation: very poor speech. Motor and musculoskeletal evaluation: episodes of prolonged paroxysmal events with falls, pain in the lower limbs, inability to walk, and perserved consciousness with normal ictal EEG suggestive of periodic paralysis. Behavioral/psychiatric evaluation: oppositional defiant disorder, hyperactivity, attention deficit, disinhibition, low frustration tolerance, hetero-aggressive behavior, depressive symptoms, symptoms of anxiety, difficulty relating to peers, sleep disturbance (reduced sleep times initially, followed by restless sleep and possible sleepwalking). Epilepsy/seizures: one generalized tonic vibratory seizure at 7 years 9 months. EEG: right temporal paroxysmal abnormalities during wake and sleep, normal afterwards. Brain imaging: mild dilatation of the lateral ventricles. Additional medical history: laryngospasms, multiple allergies. Growth parameters: head circumference ~25th %ile, weight ~25th %ile. Family history: 16p11.2 duplication was inherited from a healthy parent; his twin sister presented with intellectual disability, and his mother presented with sleepwalking.
Moderate intellectual disability (nonverbal IQ 44); severe impairment in reading, writing, and mathematics.
28531679
29121679
590001
GRCh38
Duplication
No
posar_20_ASD/DD/ID_discovery_cases-case4
15 yrs. 10 mos.
M
Developmental delay and intellectual disability
Birth/neonatal history: normal. Developmental milestones: language delay (first words at 12 months, first sentences after 36 months), walking at 13-14 months. Behavioral/psychiatric evaluation:oppositional defiant behavior, depression, anxiety, phobia for insects, attention deficit, problematic relationships with peers, introversion, impulsivity, hetero-aggressive behavior, low frustration tolerance, persecutory ideas, sleep disturbance (difficulty sleeping, nocturnal awakenings). EEG: normal. Brain imaging: reduced thickness of the pituitary gland, dilatation of some perivascular spaces in the retrotrigonal area. Dysmorphic features: right eye exophoria, retrognathia, thin nose, pectus excavatum, thin fingers, flat pronated feet, thin skin. Growth parameters: head circumference ~25th %ile, weight <3rd %ile. Family history: 16p11.2 duplication was inherited from a healthy parent; history of neoplasms on the paternal side of the family, as well as intellectual disability and psychiatric disorders in two cousins of the patient's mother.
Mild intellectual disability (FSIQ 68); learning disabilities (reading, writing, and mathematics); impaired verbal memory
29662433
30187432
525000
GRCh38
Duplication
No
posar_20_ASD/DD/ID_discovery_cases-case5
7 yrs. 3 mos.
M
ASD, developmental delay, and intellectual disability
Case met criteria for autism (ADOS-2 module 1). Birth/neonatal history: conception by in vitro fertilization and embryo transfer; initial biovular twinning with spontaneous interruption of biovularity at 3 months gestation; hypovalid sucking. Developmental milestones: language delay (first words at 12 months, first sentences ~36 months); walking at 15 months. Language and communication evaluation: echolalia, unintelligible speech, phonological alterations. Motor and musculoskeletal evaluation: motor tics, bruxism, stereotypy (iterative hops), deficit in fine motor skills. Behavioral/psychiatric evaluation: deficits in social communication and social interaction, restricted and repetitive behaviors, interests or activities, sensory abnormalities, sleep disturbance (noctural awakenings in the first 2 years of life). EEG: slow spike-waves in the left posterior regions during wakefulness at 4 years 5 months; normal at 7 years 3 months. Additional medical history: frequent upper respiratory tract infections in the first two years of life. Growth parameters: head circumference ~75th %ile, weight ~25th %ile. Family history: 16p11.2 duplication was inherited from a healthy parent; family history notable for a maternal uncle with personality disorder and a paternal grandmother with Alzheimer's disease.
Mild intellectual disability (nonverbal IQ 70); temporo-spatial disorientation; above normal visual memory
29641678
29700776
59099
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case00HI1465A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU032706; NDAR ID NDAR_INVTU259PHM)
29663727
30188578
524852
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case00HI1739A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU066204; NDAR ID NDAR_INVPW001PZX)
31465850
31476564
10715
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case03HI2710A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1033302; NDAR ID NDAR_INVYB503ADW)
28595781
28701613
105833
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3865A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1446301; NDAR ID NDAR_INVMG325CK2)
30983633
31039653
56021
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0624B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU029803; NDAR ID NDAR_INVCC267GVQ)
29663727
30188578
524852
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0646A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU041905; NDAR ID NDAR_INVXB532PBE)
29663727
30188578
524852
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case100564
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
29560300
30107008
546709
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case100677L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
29560500
30099759
539260
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case121851
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
29238604
30107008
868405
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case168999
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
31472112
31542372
70261
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case32794
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
28732095
28952418
220324
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case45562
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
29560300
30107008
546709
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47932
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
29560300
30107008
546709
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case54650
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
28732095
28952418
220324
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case62246-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
31384336
31396929
12594
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_134
13 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
29401570
30228906
827337
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_144
10 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
29555974
30166595
610622
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_206
7 yrs.
M
Intellectual disability
Holoprosencephaly. CNV inherited from unaffected parent.
Intellectual disability
29604627
30165919
561293
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_225
11 yrs.
M
ASD and intellectual disability
ASD
29555974
30166595
610622
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_28
13 yrs.
F
Intellectual disability
Language delay. Incomplete parental clinical history.
Intellectual disability
29555974
30166595
610622
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_355
7 yrs.
F
Intellectual disability
Additional clinical information N/A
Mild intellectual disability
29555974
30309999
754026
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_364
9 yrs.
F
Intellectual disability and ADHD
ADHD (combined type). CNV inherited from unaffected parent.
Intellectual disability
29568699
30228906
660208
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_412
2 yrs.
M
Developmental delay
Dysmorphic facial features
Global developmental delay
29401570
30309999
908430
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_433
15 yrs.
F
Intellectual disability and ADHD
ADHD
Intellectual disability
29568699
30166678
597980
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_498
4 yrs.
M
ASD and intellectual disability
ASD
Moderate intellectual disability
29579757
30165919
586163
GRCh38
Duplication
No
raca_12_CAS_discovery_cases-case1
NA
NA
Childhood apraxia of speech (CAS) and autistic features
Language assessment (using Oral and Written Language Scales): no impairments in listening comprehension, oral expression, or oral composite (Listening Comprehension score of 100; Oral Expression score of 92; Oral Composite score of 95). Speech processing assessment (using Syllable Repetition Task/SRT): impairments in speech processing and speech production. Oral mechanism evaluation: no impairments in oral structure or function. Motor evaluation: history of gross motor impairment by parent report; no impairment in oral-nonverbal motor function. Developmental evaluation: reported history within typical limits; case on antidepressant medication and has reportedly experienced social difficulties.
Assessment using Kaufman Brief Intelligence Test, 2nd ed.: nonverbal score of 108; verbal performance score of 96; composite IQ score of 103 (within typical limits)
29618847
30181060
562214
GRCh38
Deletion
No
raca_12_CAS_discovery_cases-case2
NA
NA
Childhood apraxia of speech (CAS) and ADHD
Language assessment (using Oral and Written Language Scales): no impairments in listening comprehension, impairments in oral expression and oral composite scores (Listening Comprehension score of 96; Oral Expression score of 71; Oral Composite score of 82). Speech processing assessment (using Syllable Repetition Task/SRT): impairments in speech processing and production. Oral mechanism evaluation: no impairments in oral structure or function. Motor evaluation: history of gross motor impairment by parent report, impairment in oral-nonverbal motor function. Developmental evaluation: reported history within typical limits; case on medication for ADHD and behavioral issues.
Assessment using Kaufman Brief Intelligence Test, 2nd ed.: nonverbal score of 79; verbal performance score of 90; composite IQ score of 82 (below typical limits).
29662633
30179247
516615
GRCh38
Deletion
Yes
reinthaler_14_EP_discovery_cases-caseF1-II.1
N/A
M
Epilepsy and developmental delay
Epilepsy phenotype: atypical rolandic epilepsy (atypical benign partial epilepsy of childhood/Landau-Kleffner syndrome). Seizures: febrile seizures (age of onset, 1.0 yr.); generalized tonic-clonic seizures (age of onset, 3.0 yrs.). EEG: electrical status epilepticus during slow sleep. MRT/CT: normal. Neuropsychological development: severe delay. Language development: severe delay, speech regression. Additional genetic information: case also carries maternally-inherited GRIN2A missense variant. Family history: two siblings with centrotemporal spikes on EEG (1/2 positive for 16p11.2 duplication; both affected siblings are positive for maternally-inherited GRIN2A missense variant); unaffected parents.
Severe developmental delay
29488679
30088679
600001
GRCh38
Duplication
Yes
reinthaler_14_EP_discovery_cases-caseF2-III.1
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy. Seizures: nocturnal tonic-clonic seizures, Rolandic seizures (age of onset, 2.5 yrs.). EEG: centrotemporal spikes. MRT/CT: normal. Neuropsychological development: normal. Language development: normal. Family history: mother presents with rolandic epilepsy (positive for 16p11.2 duplication).
29488679
30088679
600001
GRCh38
Duplication
Yes
reinthaler_14_EP_discovery_cases-caseF3-II.1
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy. Seizures: febrile seizures (age of onset, 0.5 yrs.); nocturnal tonic-clonic seizures (age of onset, 5 yrs.). EEG: centrotemporal spikes. MRT/CT: normal. Neuropsychological development: normal. Language development: normal. Family history: negative. Additional genetic information: case also carried 22q11.21 duplication.
29488679
30088679
600001
GRCh38
Duplication
Yes
reinthaler_14_EP_discovery_cases-caseF4-II.1
N/A
F
Epilepsy
Epilepsy phenotype: rolandic epilepsy. Seizures: tonic-clonic seizures (age of onset, 5 yrs.). EEG: centrotemporal spikes, transient electrical status epilepticus during slow sleep. MRT/CT: normal. Neuropsychological development: normal. Language development: normal. Family history: negative.
29488679
30088679
600001
GRCh38
Duplication
Yes
reinthaler_14_EP_discovery_cases-caseF5-II.1
N/A
F
Epilepsy
Epilepsy phenotype: rolandic epilepsy. Seizures: febrile seizures (age of onset, 1.6 yrs.); tonic-clonic seizures and Rolandic seizures (age of onset, 5.5 yrs.). EEG: centrotemporal spikes. MRT/CT: normal. Neuropsychological development: normal. Language development: normal. Family history: father presents with febrile seizures (positive for 16p11.2 duplication).
29638679
29748679
110001
GRCh38
Duplication
No
reinthaler_14_EP_replication_cases-caseF6-I.1
N/A
F
Epilepsy
Epilepsy phenotype: rolandic epilepsy. Seizures: nocturnal tonic-clonic seizures, starring (age of onset, 6 yrs.). EEG: centrotemporal spikes. MRT/CT: normal. Neuropsychiatric development: normal. Language development: normal. Family history: negative.
29488679
30088679
600001
GRCh38
Duplication
Yes
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH8
21 mos.
M
Seizures and speech delay
Developmental milestones: speech delay. Motor and musculoskeletal evaluation: 2-3 toe syndactyly, clinodactyly. Epilepsy/seizures: seizures. Family history: father with a history of childhood seizures and speech problems, sister with speech delay and seizures, paternal first cousin once removed with intellectual disability.
29646068
30181301
535234
GRCh38
Deletion
No
roberts_13_ASD/DD/ID_discovery_cases-ASDcase10
26 yrs.
M
ASD
Dysmorphism
29595444
30320952
725509
GRCh38
Duplication
Yes
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase16
9 mos.
M
Learning disability (developmental delay/intellectual disability)
Dysmorphism
28811477
29091074
279598
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case16835
NA
NA
ASD
NA
NA
29550781
30059319
508538
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case23517
NA
NA
ASD
NA
NA
29550781
30059319
508538
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case23647
NA
NA
ASD
NA
NA
29550781
30059319
508538
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case25383
NA
NA
ASD
NA
NA
29581255
30066187
484932
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case28737
NA
NA
ASD
NA
NA
29550781
30059319
508538
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case28905
NA
NA
ASD
NA
NA
29550781
30059319
508538
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case29807
NA
NA
ASD
NA
NA
29564184
30066047
501863
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1060-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
32128300
32586373
458074
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-127
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
32457717
33371260
913544
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11009.p1
9
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11012.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
28636370
28802777
166408
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
29355870
29612926
257057
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11056.p1
6.4
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62
29867894
29874545
6652
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11057.p1
8.7
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11060.p1
6.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11085.p1
10.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11087.p1
6.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
29581036
30193981
612946
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11096.p1
13.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
28597166
28620264
23099
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11120.p1
15.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 128
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11135.p1
6.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11142.p1
7.9
M
Autism
NA
Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11145.p1
5.9
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11154.p1
12.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11156.p1
13.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
28709499
28754850
45352
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11161.p1
7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11176.p1
12.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11187.p1
7.8
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 115; verbal IQ, 108
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11212.p1
16.1
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
28592014
28609431
17418
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11214.p1
15.5
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
31467390
31477712
10323
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11235.p1
6.8
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
30579139
30583423
4285
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11249.p1
5.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11263.p1
13.2
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11284.p1
8.3
M
ASD
NA
Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11285.p1
15.3
M
Autism
NA
Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11291.p1
4.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11298.p1
15.8
M
Autism
NA
Full-scale IQ, 141; non-verbal IQ, 132; verbal IQ, 143
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11321.p1
17.7
M
Autism
NA
Full-scale IQ, 12; non-verbal IQ, 17; verbal IQ, 7
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11322.p1
4.2
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11324.p1
11.4
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
28590936
28609431
18496
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11345.p1
6.1
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11359.p1
5.5
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11368.p1
5.9
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11371.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
28590633
28609431
18799
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11391.p1
15.2
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
28590939
28609431
18493
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11396.p1
13.6
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11412.p1
8.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85
28602644
28618832
16189
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11433.p1
13.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
29636021
30204300
568280
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11436.p1
4.8
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11459.p1
11.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 88; verbal IQ, 71
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11480.p1
7.9
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11495.p1
5.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11502.p1
16.1
F
Autism
NA
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11504.p1
8.2
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
28597166
28609431
12266
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
29584162
30228207
644046
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11546.p1
11.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 123; verbal IQ, 100
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11555.p1
9.1
F
Aspergers
NA
Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
29584162
30320882
736721
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11563.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11565.p1
10.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
28604387
28609431
5045
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11581.p1
5.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11598.p1
5.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
28602644
28616822
14179
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11609.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11629.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
29636021
30251989
615969
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11634.p1
5.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 56; verbal IQ, 63
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11673.p1
6.3
M
Aspergers
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 92
28604387
28609431
5045
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
29636021
30188484
552464
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11698.p1
8.4
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11776.p1
6.1
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 51; verbal IQ, 76
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11788.p1
8.8
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11800.p1
13.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11809.p1
6.6
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
28718151
28733437
15287
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11835.p1
6.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
28603480
28607988
4509
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
28605344
28609431
4088
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11969.p1
14.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11972.p1
8.5
F
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11979.p1
7.5
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
30972891
30975823
2933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11979.p1
7.5
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12003.p1
4.3
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
29581036
30212040
631005
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12037.p1
10.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12050.p1
5.5
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12068.p1
12.5
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12091.p1
4.4
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
28709499
28750518
41020
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
29581036
30188484
607449
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12180.p1
16.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12201.p1
13.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12225.p1
15.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
29710543
29729616
19074
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12308.p1
14.3
F
Aspergers
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 105
29581036
30204300
623265
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12313.p1
11.8
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12329.p1
8.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12345.p1
11.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
28605344
28607988
2645
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12358.p1
9.3
F
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12366.p1
4
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12368.p1
10.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 50; verbal IQ, 40
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12370.p1
8.2
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 127; verbal IQ, 123
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
29655415
30320882
665468
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
28603922
28609431
5510
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
29584162
30188484
604323
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12438.p1
4.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12441.p1
13.7
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12448.p1
10.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 116
31212228
31216587
4360
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12451.p1
9.6
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
29581036
30188484
607449
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12465.p1
6.2
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12521.p1
7.2
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12534.p1
7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
28603922
28607988
4067
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12539.p1
7.9
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
30972891
30975823
2933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12568.p1
14.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12579.p1
6.6
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
30972891
30975823
2933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12602.p1
9.8
M
Aspergers
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 106
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12647.p1
6.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
29644543
30212040
567498
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12670.p1
10.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12674.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
31526334
31561462
35129
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12736.p1
4.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
29636021
30251989
615969
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
28590481
28609431
18951
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12786.p1
7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12809.p1
5.6
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12838.p1
4.7
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12853.p1
9.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12878.p1
6.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12899.p1
12
M
ASD
NA
Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 87
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12961.p1
4.4
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12962.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13006.p1
10.5
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13019.p1
5.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13038.p1
8.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13041.p1
7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13063.p1
7.8
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13067.p1
5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13072.p1
15.5
F
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13095.p1
9.8
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13171.p1
7.9
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
30579139
30583423
4285
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13171.p1
7.9
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
28603480
28609431
5952
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT177
NA
NA
ASD, developmental delay, and intellectual disability
Case met DSM-5 diagnostic criteria for ASD. Case also presented with intellectual disability and psychomotor delay, Mosaic duplication (90%).
Intellectual disability
29339465
30186802
847338
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT59
NA
NA
ASD, developmental delay, and seizures
Case met DSM-5 diagnostic criteria for ASD. Case also presented with seizures, absent speech, and psychomotor delay.
28835233
31701697
2866465
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case78
15 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
28832452
29019738
187287
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case80
10 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
29662633
30179247
516615
GRCh38
Duplication
No
schaefer_10_ASD_discovery_cases-case14
NA
NA
Autism
Simple (non-syndromic) autism. No dysmorphisms.
NA
NA
NA
Unknown
Deletion
Yes
schuch_19_ASD_discovery_cases-case9
N/A
M
ASD and developmental delay
PDD-NOS, developmental delay, psychomotor agitation, aggression, mood instability. Family history: 16p11.2 deletion inherited from father who does not present with a diagnosis of ASD.
29662633
30185279
522647
GRCh38
Deletion
No
sebat_07_ASD_discovery_cases-CG2061
NA
F
Asperger's
NA
NA
29578715
30081289
502574
Unknown
Deletion
Yes
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
29500284
30106101
605817
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
29500284
30106101
605817
Unknown
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-065
NA
M
ASD
NA
NA
28813473
29033455
219983
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-066
NA
M
ASD
NA
NA
29641678
30188030
546353
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-067
NA
F
PDD-NOS
NA
NA
29641728
30188030
546303
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-068
NA
M
PDD-NOS
NA
NA
29641678
30187279
545602
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-069
NA
M
PDD-NOS
NA
NA
29641678
30187279
545602
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-070
NA
M
PDD-NOS
NA
NA
29641678
30321260
679583
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case14
7 yrs.
M
Intellectual disability
Intellectual disability, full cheeks, bulbous nose, low set ears, narrow forehead
Intellectual disability
32513443
34061205
1547763
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case27
7 yrs.
F
Intellectual disability
Intellectual disability
Intellectual disability
31979839
34179283
2199445
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseBAK43
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
35215223
35521445
306223
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseLAS17
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
29384680
30179355
794676
GRCh38
Duplication
No
soueid_16_DD/ID_discovery_cases-case5
N/A
N/A
Developmental delay/intellectual disability
35215223
35521445
306223
GRCh38
Duplication
No
stobbe_13_ASD_discovery_cases-case36
20 yrs.
M
Schizoid personality disorder
Narrow nasal bridge, thin lips, retrognathia, pes planus, single transverse palmar crease. Family history: father with schizophrenia, bipolar disorder, and ADHD. Karyotype and Fragile X testing: not performed.
29646068
30181301
535234
GRCh38
Deletion
No
streata_22_ASD/DD/ID_discovery_cases-case370
NA
M
ASD, developmental delay, and intellectual disability
Global developmental delay, autism spectrum disorder, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
29662645
30321248
658604
GRCh38
Deletion
Yes
szelest_21_ASD/DD/ID/EP_discovery_cases-case1
5.5 yrs.
F
ASD, developmental delay, intellectual disability, and epilepsy
Birth/neonatal history: pregnancy complicated by maternal hypertension; born at 40 weeks gestation by caesarean section with a birth weight of 3330 grams, length of 55 cm, and head circumference of 34 cm. Developmental milestones: speech delay, motor delay. Motor and musculoskeletal evaluation: motor aphasia, hypotonia, short hands and feet, brachydactyly of the hands and feet, partial syndactyly of the 2nd and 3rd toes, knock-knees. Behavioral/psychiatric evaluation: obstinancy, rebellious behavior, episodes of eating inedible things, suspected ASD (subsequently diagnosed with early childhood autism), increased but selective appetite. Epilepsy/seizures: drug-resistant epilepsy (onset at 8 months). EEG: small localized temporal lesions. Additional medical history: binocular hyperopia (+1.0 dioptre), squint, tooth decay, hyperinsulinism in oral glucose tolerance test, relatively low morning cortisol level with the absence of clinical symptoms, dyslipidemia, slight liver and spleen enlargement, nasal infection (moraxella catarrhalis). Dysmorphic features: narrow forehead, hypotelorism, flattened face profile, retracted chin, upslanting and almond-shaped palpebral fissures, short nasal bridge, downturned corners of the mouth, high arched palate, thickened helix of auricles, 2 cafe-au-lait spots (5-6 mm in diameter). Growth parameters: macrocephaly, severe obesity (BMI of 27 kg/m2 at 5.5 years; >95th %ile, >2 SD).
Moderate intellectual disability
28479158
30178708
1699551
GRCh38
Deletion
Yes
szelest_21_ASD/DD/ID/EP_discovery_cases-case2
1 mo.
F
MCA
Birth/neonatal history: pregnancy complicated by hypertension and maternal urinary tract infections and a history of positive test for group B beta-hemolytic streptococci, born at 40 weeks gestation by caesarean section with a birth weight of 2930 grams. Motor and musculoskeletal evaluation: fifth finger clinodactyly. Brain imaging: features of first-degree intraventricular hemorrhage detected by CNS ultrasound. Additional medical history: right heart dilatation, features of pulmonary hypertension, patent ductus arteriosus with left-right flow, patent foramen ovale, breathing problems due to congenital pneumonia, thrombocytopenia, transfusiological suspicion of thrombosis at the central venous catheter implantation place. Dysmorphic features: retracted forehead, long palpebral fissures, wide nasal bridge, tenuous upper lip, small mandible, retracted chin.
29568699
30178708
610010
GRCh38
Deletion
Yes
szelest_21_ASD/DD/ID/EP_discovery_cases-case3
2 yrs.
M
Developmental delay
Birth/neonatal history: mother's nicotinism, born at 36 weeks gestation with a birth weight of 2680 grams, length of 51 cm, and head circumference of 33 cm. Developmental milestones: motor developmental delay, delayed ability to sit (11 months), delayed ability to walk (19 months), speech delay. Motor and musculoskeletal evaluation: hypotonia, small hands, adducted feet. Additional medical history: bronchial asthma, umbilical hernia. Dysmorphic features: protruding frontal and parietal tubers, flattened face profile, oblique and narrow palpebral fissures, low-set, wide, and short nasal bridge, wide philtrum, small retracted chin, auricles rotated backwards, high arched palate, oblique occiput, thickened frontal seam. Growth parameters: macrocephaly. Family history: unknown (adopted).
29417210
30178708
761499
GRCh38
Deletion
No
tabet_12_ASD_discovery_cases-patient1
21 yrs.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
28482632
29330233
847602
GRCh38
Deletion
Yes
tammimies_15_ASD_discovery_cases-case3-0133-000
13 yrs.
F
ASD
Height 5th %ile, weight <5th %ile, decreased upper segment/lower segment (0.875) and smooth philtrum at age of 13 years.
29641478
30188186
546709
GRCh38
Duplication
No
tammimies_15_ASD_discovery_cases-case3-0269-000
N/A
M
ASD
Umbilical hernia. Dysmorphic features: hypertelorism, hypoplastic midface, anteverted nares, smooth philtrum, wide mouth, posteriorly rotated ears, 5th finger clinodactyly.
Not testable for IQ measures
29555975
30309999
754025
GRCh38
Deletion
No
tiwari_12_EP_discovery_cases-patient2
2 yrs.
F
Epilepsy
Age of onset of seizures: 1 months. EEG: multifocal spike and wave activity (at 2 years of age). Brain imaging: normal MRI/MRS; focal cortical hypometabolism on PET. Clinical characteristics and comorbidities: developmental delay, flattened nose and upturned nostrils, 2 hypopigmented spots..
Developmental delay
31909325
32504690
595365
Unknown
Deletion
No
tropeano_16_ASD_discovery_cases-MAAS25
20-29 yrs.
M
ASD
Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.
29662633
30187279
524647
GRCh38
Duplication
Yes
tuncay_22_ASD_discovery_cases-caseMC-16-3
NA
M
ASD, developmental delay, and intellectual disability
Diagnosis of ASD at 0.83 years. Developmental milestones: developmental delay. Additional medical history: gastrointestinal problems. Family history: born to unaffected non-consanguineous parents of Hispanic and European ancestry.
Intellectual disability, learning disabilities
29534229
30189006
654778
GRCh38
Deletion
No
tuncay_22_ASD_discovery_cases-caseMC-16-3
NA
M
ASD, developmental delay, and intellectual disability
Diagnosis of ASD at 0.83 years. Developmental milestones: developmental delay. Additional medical history: gastrointestinal problems. Family history: born to unaffected non-consanguineous parents of Hispanic and European ancestry.
Intellectual disability, learning disabilities
28709653
29431885
722233
GRCh38
Deletion
No
tuncay_22_ASD_discovery_cases-caseMC-16-3
NA
M
ASD, developmental delay, and intellectual disability
Diagnosis of ASD at 0.83 years. Developmental milestones: developmental delay. Additional medical history: gastrointestinal problems. Family history: born to unaffected non-consanguineous parents of Hispanic and European ancestry.
Intellectual disability, learning disabilities
30290187
31088015
797829
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
32460104
33849439
1389336
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Bas1525
53
F
BPD
Age of onset: NA.
29666830
30124527
457698
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Zas8689
50
M
BPD and ASD
Age of onset: 16. Also ASD.
29666830
30124527
457698
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Sc3007
50
M
SCZ
Age of onset: 19.
29769813
30389771
619959
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Zas9029
41
F
SCZ
Age of onset: 16.
29666830
30124527
457698
GRCh38
Duplication
No
verberne_22_ASD/DD/ID_discovery_cases-case375
NA
F
Mayer-Rokitansky-Kuster-Hauser syndrome, obesity
28814283
29032129
217847
GRCh38
Deletion
No
wallace_18_ASD_discovery_cases-case1
72 mos.
M
PDD-NOS, ID, and ADHD
Proband met DSM-IV-TR diagnostic criteria for PDD-NOS, mild intellectual disability, ADHD, enuresis, and encopresis. Birth/neonatal history: born via spontaneous vaginal delivery at 40 weeks gestation to a 31-year-old women whose pregnancy was complicated only by 3 days of moderate vaginal bleeding of undetermined cause during first trimester; birth weight of 9 lbs 0 oz, birth length of 21.5 inches. Langauge and communication evaluation: long-standing articulation difficulties. Motor and musculoskeletal evaluation: abnormal gait and fine motor coordination; mild excessive lordosis, facial hypotonia, copious drooling, and hypotonia noted at 31 months; dysarthria became notable and persisted by 48 months; significant facial hypotonia and excessive drooling noted through 72 months of age (lordosis not longer seen at this timepoint); gait marked by decreased bilatreral arm swing and posturing of his arms in front when walking or running at 48 months (gait normalized by 60 months); unable to jump at 60 months (learned to jump by 72 months); unable to walk on heels, hop on either foot, or balance on either foot for five seconds at 72 months. Behavioral/psychiatric evaluation: deficits in adaptive functioning and increasing levels of emotional and behavioral difficulties over time, particularly in the areas of pervasive developmental problems (communication, reciprocal social interaction, repetitive behaviors, unusual sensory interests and aversions), attention, affective problems, and externalizing behaviors. Brain imaging: brain MRI at 14 months demonstrated scattered foci of T2 hyperintensity in bilateral periventricular and parietal subcortical white matter; follow-up MRI at 24 months demonstrated unchanged scattered areas of T2 hyperintensity in the parietal subcortical regions and decreased periventricular T2 hyperintensities. Ophthalmologic evaluation: mild visual impairment; mild temporal pallor of the optic nerves in both eyes, mild myopic astigmatism. Cardiac evaluation: congenital heart defects; ECG identified likely right-sided aortic arch and two small, nonhemodynamically significant atrial septal defects. Additional medical history: history of chronic constipation; suspected environmental allergies. Dysmorphic features: upslanting palpebral fissures, mild telecanthus, bilateral epicanthal folds, highly arched palate, cupped ears with overfolded helices, small and broad uvula, prominent anterior hair whorl, and delayed in intramembranous ossification noted at 24 months; broad forehead, broad nasal root, mild hypertelorism, bilateral epicanthal folds, bilateral prominent ears, widely spaced nipples, small though mildly protuberant ears with thickened superior helices, and double hair whorl (anterior hairline and cranial vertex) noted at 31 months. Growth parameters: head circumference similar to 16p11.2 deletion patients; height and weight above the mean compared to both deletion and duplication cases. Family history: proband's mother has a de novo 16p11.2 duplication and presented with depression and anxiety; proband's maternal aunt has a de novo 16p11.2 duplication and presented with depression and suspected learning disability; proband's maternal grandmother presented with depression, maternal grandfather with diabetes and hypertension; family history of dyslexia, history of seizures, and depression on the paternal side of the proband's family.
Mild intellectual disability
29476791
30073987
597197
GRCh38
Triplication
Yes
weiss_08_ASD_discovery_cases-AU002903
NA
M
ASD
ADI-R (tested at 13.07 yrs): social total 28, verbal communication total 16, behavior total 6, development total 4; ADOS (tested at 15.46 yrs): module 4, communication total 3, social total 4, play total 1, behavior total 2
Raven nonverbal IQ 94 (tested at 15 yrs); Vineland score 6 yrs 8 mo (tested at 16.2 yrs); Peabody test est. age >22 yrs (age at test: 15)
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_ASD_discovery_cases-AU002905
NA
F
Autism
ADI-R (tested at 9.84 yrs): social total 27, verbal communication total 17, behavior total 8, development total 3; ADOS (tested at 11.91 yrs): module 3, communication total 6, social total 12, play total 2, behavior total 0
Raven nonverbal IQ 90 (tested at 11 yrs); Vineland score 9 yrs 5 mo (tested at 12.68 yrs); Peabody test est. age 10 yrs 9 mos (age at test: 11 yrs)
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_ASD_discovery_cases-AU011004
NA
M
Autism
ADI-R (tested at 7.95 yrs): social total 26, verbal communication total 15, behavior total 7, development total 5; ADOS (tested at 11.09 yrs): module 3, communication total 3, social total 8, play total 0, behavior total 3
Raven nonverbal IQ 110 (tested at 11 yrs)
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_ASD_discovery_cases-AU0154302
NA
M
Autism
ADI-R (testeed at 14.73 yrs): social total 28, non-verbal communication total 12, behavior total 4, development total 5; ADOS (tested at 14.73 yrs): module 1, communication total 4, social total 9, play total 2, behavior total 4
Raven nonverbal IQ 70 (tested at 14 yrs)
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_ASD_discovery_cases-AU0154303
NA
F
Autism
ADI-R (tested at 12.85 yrs): social total 30, non-verbal communication total 14, behavior total 4, development total 5; ADOS (tested at 12.92 yrs): module 1, communication total 5, social total 12, play total 4, behavior total 0
Raven nonverbal IQ N/A
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_ASD_discovery_cases-AU029803
NA
M
Autism
ADI-R (tested at 4.79 yrs): social total 16, verbal communication total 14, behavior total 3, development total 3
Raven nonverbal IQ N/A
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_ASD_discovery_cases-AU032704
NA
M
Autism
ADI-R (tested at 9.99 yrs): social total 28, verbal communication total 18, behavior total 4, development total 5; ADOS (tested at 14.82yrs): module 3, communication total 4, social total 7, play total 0, behavior total 1
Raven nonverbal IQ 75 (tested at 14 yrs); Peabody test est. age 14 yrs 9 mos (tested at 14 yrs)
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_ASD_discovery_cases-AU032705
NA
M
Autism
ADI-R (tested at 8.36 yrs): social total 28, verbal communication total 23, behavior total 8, development total 5; ADOS (tested at 13.19yrs): module 2, communication total 5, social total 8, play total 1, behavior total 5
Raven nonverbal IQ 50 (tested at 13 yrs); Peabody test est. age 7 yrs 2 mos (tested at 13 yrs)
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_ASD_discovery_cases-AU032706
NA
M
Autism
ADI-R (tested at 6.86 yrs): social total 27, verbal communication total 18, behavior total 4, development total 5; ADOS (tested at 11.68 yrs): module 3, communication total 3, social total 7, play total 0, behavior total 0
Raven nonverbal IQ 107 (tested at 11 yrs); Peabody test est. age 14 yrs 9 mos (tested at 11 yrs)
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_ASD_discovery_cases-AU032707
NA
M
Autism
ADI-R (tested at 10.55 yrs): social total 26, verbal communication total 24, behavior total 8, development total 5; ADOS (tested at 10.55 yrs): module 3, communication total 6, social total 13, play total 1, behavior total 1
Raven nonverbal IQ 107 (tested at 10 yrs); Pebaody test est. age 9 yrs 3 mos (tested at 10 yrs)
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_ASD_discovery_cases-AU041905
NA
M
Autism
ADI-R (tested at 5.92 yrs): social total 15, verbal communication total 15, behavior total 6, development total 5; ADOS (tested at 7.96 yrs): module 3, communication total 5, social total 10, play total 1, behavior total 4
Raven nonverbal IQ 108 (tested at 7 yrs); Peabody test est. age 5 yrs 6 mos (tested at 7 yrs)
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_ASD_discovery_cases-AU0938301
NA
M
Autism
ADI-R (tested at 9.32 yrs): social total 18, verbal communication total 12, behavior total 6, development total 5; ADOS (tested at 9.32 yrs): module 3, communication total 3, social total 7, play total 1, behavior total 3
Raven nonverbal IQ 80 (tested at 9 yrs); Peabody test est. age 6 yrs 5 mos (tested at 9 yrs)
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_ASD_replication_cases-deCODEAut1
22
F
Autism
Autism, speech and motor delay, poor eye contact, ADHD
Mild MR; WISC-III: VIQ 65, PIQ 61, FS 61 (tested at 17.75 yrs)
29488679
30088679
600001
GRCh38
Deletion
No
weiss_08_ASD_replication_cases-deCODEAut2
12
M
Autism
Atypical autism, speech delay, poor eye contact, self stimulating behavior, ADHD, seizures
WISC III (tested at 7.1 years): VIQ 75, PIQ 75, FS 73
29488679
30088679
600001
GRCh38
Deletion
No
weiss_08_ASD_replication_cases-deCODEAut3
37
F
Asperger's
Asperger's, epilepsy, history of seizures
Unspecified MR; WISC-III N/A
29488679
30088679
600001
GRCh38
Deletion
No
weiss_08_DD/MR/ASD_replication_cases-CHBpatient1
6 yr 6 mo
M
ASD
Speech and motor delay, poor eye contact, tactile aversion, self-stimulating behavior
NA
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_DD/MR/ASD_replication_cases-CHBpatient2
2 yr 9 mo
M
ASD
Speech and motor delay
NA
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_DD/MR/ASD_replication_cases-CHBpatient3
17 months
M
ASD
Speech and motor delay
NA
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_DD/MR/ASD_replication_cases-CHBpatient4
9 yr 2 mo
M
ASD
Speech and motor delay, poor eye contact
NA
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_DD/MR/ASD_replication_cases-CHBpatient5
9 yr 2 mo
M
ASD
Speech and motor delay, poor eye contact
NA
29488679
30088679
600001
GRCh38
Deletion
Yes
weiss_08_DD/MR/ASD_replication_cases-CHBpatient6
14 months
M
ASD
Motor delay, not crawling or walking yet, agenesis of corpus callosum
NA
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_DD/MR/ASD_replication_cases-CHBpatient7
3 yr 3 mo
F
ASD
Mild speech delay, motor delay, mild spasticity, 5th finger clinodactyly
NA
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_DD/MR/ASD_replication_cases-CHBpatient8
2 yr 6 mo
M
ASD
Speech delay
NA
29488679
30088679
600001
GRCh38
Duplication
Yes
weiss_08_DD/MR/ASD_replication_cases-CHBpatient9
9 yr 9 mo
F
ASD
Speech delay, seizures beginning at 6 months, mental retardation
Mental retardation
29488679
30088679
600001
GRCh38
Duplication
Yes
wenger_16_ASD_discovery_cases-case30
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
29636021
30166486
530466
GRCh38
Deletion
No
wolfe_16_ID_discovery_cases-DECIPHER327119
27 yrs.
F
Intellectual disability, ASD, and OCD
Psychiatric history: autistic spectrum disorder (ASD), depression, obsessive compulsive disorder (OCD). Mini PAS-ADD evaluation: depression, obsessive compulsive disorder (OCD). BPI-S evaluation: self-injurious, aggressive/destructive, or stereotyped behaviors occur less than weekly. Medical history: renal problems during childhood, menorrhagia, severe anemia, onychogryphosis. Dysmorphic features: no gross dysmorphology reported. Growth parameters: height 161.8 cm, head circumference 54.2 cm. Ethnicity: white (other).
Mild intellectual disability
29735003
30082147
347145
GRCh38
Duplication
Yes
wolfe_16_ID_discovery_cases-DECIPHER327121
62 yrs.
F
Intellectual disability
Psychiatric history: psychotic depression. Mini PAS-ADD evaluation: psychosis. BPI-S evaluation: self-injurious, aggressive/destructive, or stereotyped behaviors occur less than weekly. Medical history: childhood jaundice, childhood epilepsy, type II diabetes, constipation, glaucoma. Dysmorphic features: no gross dysmorphology reported. Growth parameters: height 172.5 cm, head circumference 53.2 cm. Ethnicity: white (British).
Mild intellectual disability
29735003
30082147
347145
GRCh38
Duplication
Yes
wolfe_16_ID_discovery_cases-DECIPHER327122
33 yrs.
F
Intellectual disability and schizoaffective disorder
Psychiatric history: schizoaffective disorder. Mini PAS-ADD evaluation: depression, anxiety disorder, psychosis. BPI-S evaluation: self-injurious, aggressive/destructive, or stereotyped behaviors occur less than weekly. Medical history: myopia. Dysmorphic features: no gross dysmorphology reported. Growth parameters: height 173.4 cm, head circumference 57.9 cm. Ethnicity: white (British).
Mild intellectual disability
29432663
30181241
748579
GRCh38
Duplication
Yes
wolfe_16_ID_discovery_cases-DECIPHER327133
21 yrs.
M
Intellectual disability, ASD, and ADHD
Psychiatric history: autistic spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), on forensic in-patient section. Mini PAS-ADD evaluation: none met. BPI-S evaluation: at least weekly aggressive/destructive behavior. Medical history: insulin-dependent diabetes, hypercholesterolemia. Dysmorphic features: N/A. Growth parameters: height 188 cm, head circumference 59 cm. Ethnicity: white (British).
Mild intellectual disability
29735003
30181241
446239
GRCh38
Duplication
Yes
wolfe_16_ID_discovery_cases-DECIPHER327135
19 yrs.
M
Intellectual disability and OCD
Psychiatric history: none recorded. Mini PAS-ADD evaluation: depression, anxiety disorder, hypomania, obsessive compulsive disorder (OCD), psychosis. BPI-S evaluation: at least weekly stereotyped behavior. Medical history: seizures during infancy, acne. Dysmorphic features: tapering fingers. Growth parameters: height 162 cm, head circumference 59 cm. Ethnicity: white (British).
Mild intellectual disability
29735003
30181241
446239
GRCh38
Deletion
Yes
woodbury_smith_23_ASD/DD/ID_discovery_cases-case1-0616-003
12 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: born at 38 weeks gestation following an uneventful pregnancy; birth weight of 6 lb 11 oz. Developmental milestones: concerns for language and motor milestones at 20 months (including concerns about reduced motor tone and lack of babbling). Language and communication evaluation: Oral and Written Language Scales (OWLS)-II revealed overall impairment in language (total language standard score 62) and in expressive language (standard score 50) with borderline impairment in receptive language (standard score 78). Behavioral/psychiatric evaluation: diagnosed with ASD at 4.5 years; evaluation by ADOS at 8 years and ADI-R at 12 years were consistent with a diagnosis of autism across all domains; severe anxiety. Growth parameters: decreased body weight (31 kg, <1st %ile) and tall stature (height 149 cm, 99th %ile) with normal head circumference (53 cm, 64th %ile) at 9 years. Family history: family history notbale for one younger brother with a research diagnosis of autism spectrum disorder (formal clinical diagnosis not yet given) and obesity (BMI >99th %ile) and another younger brother with gross and fine motor delay, developmental coordination disorder, dyslexia, and obesity (BMI >99th %ile); their mother was deemed to be on the Broader Autism Phenotype (BAP) based on results from the Broader Autism Phenotype Questionnaire (BAP-Q).
Borderline intellectual disability (full scale IQ 78 on Stanford-Binet test with verbal IQ 91 and non-verbal IQ 68 at 9 years of age).
28813181
29039870
226690
GRCh38
Deletion
Yes
woodbury_smith_23_ASD/DD/ID_discovery_cases-case1-0616-004
11 yrs.
M
ASD
Birth/neonatal history: born at 38 weeks gestation following an uneventful pregnancy and delivery; birth weight of 6 lb 14 oz. Language and communication evaluation: communication assessment were with normal limits. Behavioral/psychiatric evaluation: difficulties with socialization and communication with his peers; a formal ASD evaluation by ADOS-2 was consistent with a research diagnosis of ASD (a formal clinical diagnosis was never given); externalizing behaviours (aggressive behavior, oppositional/defiant behaviors) and internalising problems (severe anxiety, mood symptoms) reported by parents and teachers; attention deficits. Growth parameters: obesity (BMI 26.97 kg/m2; >99th %ile, Z-score +2.75) with a height of 156.8 cm (97th percentile) and weight of 66.3 kg at 11 years. Family history: family history notable for an older brother diagnosed with ASD and presenting with expressive language impairment and borderline intellectual disability and a younger brother with gross and fine motor delay, developmental coordination disorder, dyslexia, and obesity (BMI >99th %ile); their mother was deemed to be on the Broader Autism Phenotype (BAP) based on results from the Broader Autism Phenotype Questionnaire (BAP-Q).
Wechsler Intelligence Scale for Children (WISC-V) full scale IQ score of 92, verbal IQ score 106, and non-verbal IQ score 85 at 5.5 years of age.
28813181
29039870
226690
GRCh38
Deletion
Yes
woodbury_smith_23_ASD/DD/ID_discovery_cases-case1-0616-005
7 yrs.
M
Developmental delay and learning disability
Birth/neonatal history: born at 38 weeks gestation following an uneventful pregnancy and delivery. Developmental milestones: gross and fine motor delays. Language and communication evaluation: CCC-2 scores in the 14th %ile suggested vulnerabilities in the communicative domain. Motor and musculoskeletal evaluation: diagnosis of developmental coordination disorder at 6 years. Behavioral/psychiatric evaluation: screening using the SRS and SCQ were within normal limits, ADOS was not consistent with a diagnosis of ASD; mild anxiety. Growth parameters: obesity (BMI 25.69kg/m2; >99th %ile, Z-score 3.83) and tall stature (height 132.5 cm, 98th %ile) and a weight of 45.1kg at 7 years of age. Family history: family history notable for one older brother diagnosed with ASD and presenting with expressive language impairment and borderline intellectual disability and another older brother with a research diagnosis of autism spectrum disorder (formal clinical diagnosis not yet given) and obesity (BMI >99th %ile); their mother was deemed to be on the Broader Autism Phenotype (BAP) based on results from the Broader Autism Phenotype Questionnaire (BAP-Q).
Wechsler Preschool and Primary Scale of Intelligence (WPPSI-III) evaluation at 4 years and 5 months of age showed an IQ score of 117; diagnosis of dyslexia at 6 years.
28813181
29039870
226690
GRCh38
Deletion
Yes
xu_16_ASD/DD/ID_discovery_cases-case10
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
29413879
30073987
660109
GRCh38
Deletion
No
yap_21_ASD_discovery_cases-case3305177
NA
M
ASD, intellectual disability, and epilepsy/seizures
History of seizures, sleep disturbances, head circumference within 2-50th %ile.
WISC 1st %ile (tested outside of AAB interviews)
28821243
29033424
212182
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case4876
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
28807707
29039870
232164
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case7687
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
29555974
30133562
577589
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case497
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
29580436
30180574
600139
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case498
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
31549193
31645257
96065
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case499
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
34061880
34208804
146925
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case500
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
34061880
34208804
146925
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case501
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
34962968
35268851
305884
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0019-004
N/A
N/A
ASD
Case cohort: The Autism Simplex Collection . Clinical description: Obese; overeater; sleep problems - anxiety causes him to wake
29572679
30188679
616001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-0088-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
29566679
30188679
622001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-caseAU002903
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: eczema; delayed teeth; frequent otitus media requiring tubes; severe asthma as an infant; allergies; OCD symptoms
29436680
30295679
859000
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3160302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
29514180
30285179
771000
GRCh38
Duplication
No
yu_11_ASD_discovery_cases-patient10
4 yrs. 8 mos.
M
ASD
Diagnosis of severe ASD. Developmental milestones: language and motor delays. Birth weight: 1588 g. Neonatal adaption: poor weight gain, gastro-esophageal refulx, failure to thrive. Hypotonia. Eating behavior: picky eater; eats in large quantities. Growth parameters: height, 107.1 cm (50-75th %ile); weight, 18.4 kg (50-75th %ile); OFC, 50.2 cm (90th %ile); BMI, 16.0 (68th %ile; Z-score 0.48).
Mental retardation
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_ASD_discovery_cases-patient11
6 yrs. 6 mos.
F
PDD-NOS
Diagnosis of PDD-NOS. Developmental milestones: language delay. Birth weight: 3657 g. Neonatal adaption: early failure to thrive. Hypotonia. Eating behavior: normal. Growth parameters: height, 124.4 cm (90th %ile); weight, 34.8 kg (>97th %ile); OFC, NA; BMI, 22.5 (99th %ile; Z-score 2.26).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_ASD_discovery_cases-patient16
12 yrs. 6 mos.
M
PDD-NOS
Diagnosis of PDD-NOS. Developmental milestones: language and motor delays. Birth weight: 4366 g. Neonatal adaption: colicky. Mild hypotonia. Eating behavior: good appetite. Growth parameters: height, 169.3 cm (97th %ile); weight, 68.5 kg (97th %ile); OFC, 57.6 cm (98th %ile); BMI, 23.9 (94th %ile; Z-score 1.52).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_ASD_discovery_cases-patient18
10 yrs. 8 mos.
F
PDD-NOS
Diagnosis of PDD-NOS. Developmental milestones: language and motor delays. Birth weight: 2722 g. Neonatal adaption: normal. Mild hypotonia. Eating behavior: good appetite. Growth parameters: height, 149 cm (<90th %ile); weight, 39 kg (75th %ile); OFC, 56.6 cm (98th %ile); BMI, 17.6 (57th %ile; Z-score 0.18).
Mental retardation
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_ASD_discovery_cases-patient2
10 yrs. 11 mos.
M
ASD
Developmental milestones: global developmental delay. Birth weight: 3400 g. Neonatal adaption: normal. Mild hypotonia. Eating behavior: avid appetite. Growth parameters: height, 160 cm (>95th %ile); weight, 87.5 kg (>97th %ile); OFC, 56 cm (>97th %ile); BMI, 34.3 (99th %ile, Z-score 2.54).
Very low IQ.
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_ASD_discovery_cases-patient20
14 yrs. 2 mos.
F
ASD
Diagnosis of mild ASD. Developmental milestones: mild language delay. Birth weight: unknown. Neonatal adaption: normal. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 155.8 cm (10-25th %ile); weight, 71.4 kg (90-95th %ile); OFC, NA; BMI, 29.4 (97th %ile; Z-score 1.85).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_ASD_discovery_cases-patient22
2 yrs. 4 mos.
F
ASD
Diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 3941 g. Neonatal adaption: jaundice. Hypotonia. Eating behavior: good appetite. Growth parameters: height, 92 cm (90th %ile); weight, 16.5 kg (>97th %ile); OFC, 55 cm (>97th %ile); BMI, 19.5 (98th %ile; Z-score 2).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_ASD_discovery_cases-patient5
5 yrs. 6 mos.
M
ASD
Diagnosis of ASD. Developmental milestones: motor delay; significant language delay. Birth weight: 4540 g. Neonatal adaption: normal. Hypotonia. Eating behavior: normal. Growth parameters: height, 108 cm (50-75th %ile); weight, 19 kg (70th %ile); OFC, 51 cm (50th %ile); BMI, 16.3 (74th %ile; Z-score 0.65).
Mental retardation
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_ASD_discovery_cases-patient7
11 yrs. 4 mos.
M
ASD
Diagnosis of ASD. Developmental milestones: language delay. Birth weight: 3062 g. Neonatal adaption: feeding difficulty. Mild hypotonia. Eating behavior: picky eater with food aversions. Growth parameters: height, 154.5 cm (90th %ile); weight, 65.2 kg (98th %ile); OFC, 58 cm (91-98th %ile); BMI, 25.8 (97th %ile; Z-score 1.95).
Borderline IQ
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_ASD_discovery_cases-patient9
4 yrs. 9 mos.
M
ASD
Diagnosis of severe ASD. Developmental milestones: language and motor delays. Birth weight: 1814 g. Neonatal adaption: poor weight gain, gastro-esophageal refulx, failure to thrive. Hypotonia: none. Eating behavior: picky eater with poor eating habits. Growth parameters: height, 107.3 cm (50-75th %ile); weight, 19 kg (75-90th %ile); OFC, NA; BMI, 16.5 (79th %ile; Z-score 0.81).
Mental retardation
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient1
1 yr 10 mos.
M
Developmental delay
No diagnosis of ASD. Developmental milestones: mild language delay; motor delay. Birth weight: 2490. Neonatal adaption: transient tachypnea of newborn, failure to thrive, poor weight gain. Hypotonia. Eating behavior: poor feeding skills. Growth parameters: height, 81.5 cm (10-25th %ile); weight, 10.15 kg (<5th %ile); OFC, 50 cm (90-95th %ile); BMI, 15.28 (14th %ile; Z-score -1.08).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient12
14 yrs.
F
Developmental delay
No diagnosis of ASD. Developmental milestones: language delay. Birth weight: 3175 g. Neonatal adaption: unknown. Hypotonia: unknown. Eating behavior: normal. Growth parameters: height, 148 cm (<3rd %ile); weight, 46.9 kg (25th %ile); OFC, 54.5 cm (90th %ile); BMI, 21.4 (64th %ile; Z-score 0.37.
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient13
19 yrs.
M
Developmental delay
No diagnosis of ASD. Developmental milestones: motor delay. Birth weight: 2722 g. Neonatal adaption: jaundice, seizures. Hypotonia: unknown. Eating behavior: normal. Growth parameters: height, 176 cm (50th %ile); weight, 86 kg (89th %ile); OFC, 57 cm (>97th %ile); BMI, 27.9 (90th %ile; Z-score 1.28).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient14
3 yrs.
F
Other
No diagnosis of ASD. Developmental milestones: normal. Birth weight: 2296 g. Neonatal adaption: unknown. Hypotonia: none. Eating behavior: unknown. Growth parameters: height, 96.7 cm (75th %ile); weight, 14.6 kg (50th %ile); OFC, 50.25 cm (75-90th %ile); BMI, 15.6 (56th %ile; Z-score 0.15).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient15
15 yrs. 11 mos.
F
Other
No diagnosis of ASD. Developmental milestones: normal. Birth weight: unknown. Neonatal adaption: unknown. Hypotonia: none. Eating behavior: normal. Growth parameters: height, 153.3 cm (10-25th %ile); weight, 59.9 kg (50-75th %ile); OFC, NA; BMI, 25.5 (90th %ile; Z-score 1.31).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient17
6 yrs. 6 mos.
M
Developmental delay
Diagnosis of ASD: unknown. Developmental milestones: language & motor delay. Birth weight: 2778 g. Neonatal adaption: normal. Hypotonia. Eating behavior: unknown. Growth parameters: height, 126 cm (95th %ile); weight, 44.8 kg (>95th %ile); OFC, NA; BMI, 28.2 (>99th %ile; Z-score 2.99).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient19
2 yrs.
F
Developmental delay
No diagnosis of ASD. Developmental milestones: language & motor delay. Birth weight: 4196 g. Neonatal adaption: gastro-esophageal reflux, poor feeding. Hypotonia. Eating behavior: feeding difficulty. Growth parameters: height, 85 cm (10-25th %ile); weight, 11 kg (25th %ile); OFC, 52.25 cm (99th %ile); BMI, 15.2 (18th %ile; Z-score -0.9).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient21
21 yrs.
F
Developmental delay
No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 2155 g. Neonatal adaption: poor feeding. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 146 cm (>95th %ile); weight, 71 kg (>95th %ile); OFC, NA; BMI, 33.3 (96th %ile; Z-score 1.77).
Mental retardation (IQ 40)
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient23
4 yrs. 6 mos.
M
Developmental delay
No diagnosis of ASD. Developmental milestones: language delay. Birth weight: 3005 g. Neonatal adaption: normal. Hypotonia: none. Eating behavior: picky eater. Growth parameters: height, 106.7 cm (50-75th %ile); weight, 18.6 kg (75th %ile); OFC, NA; BMI, 16.3 (75th %ile; Z-score 0.67).
Mental retardation
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient24
5 yrs.
F
Developmental delay
No diagnosis of ASD. Developmental milestones: language delay. Birth weight: 2155 g. Neonatal adaption: unknown. Hypotonia. Eating behavior: unknown. Growth parameters: height, 105.5 cm (25-50th %ile); weight, 16.8 kg (20-50th %ile); OFC, NA; BMI, 15.1 (48th %ile; Z-score -0.05).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient25
7 yrs.
F
Developmental delay
No diagnosis of ASD. Developmental milestones: motor delay. Birth weight: unknown. Neonatal adaption: poor feeding. Hypotonia. Eating behavior: unknown. Growth parameters: height, 138.1 cm (75th %ile); weight, 33.8 kg (75th %ile); OFC, 54.5 cm (90th %ile); BMI, 18 (72th %ile; Z-score 0.57).
Learning difficulty
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient26
9 yrs. 6 mos.
M
Developmental delay
No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 2722 g. Neonatal adaption: excessive crying. Hypotonia: none. Eating behavior: unknown. Growth parameters: height, 129 cm (12th %ile); weight, 35 kg (77th %ile); OFC, 53 cm (50th %ile); BMI, 21 (94th %ile; Z-score 1.52).
Mental retardation (IQ 68)
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient27
13 yrs.
F
Other
Diagnosis of ASD: unknown. Developmental milestones:. Unknown. Birth weight: unknown. Neonatal adaption: unknown. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 150.5 cm (10-25th %ile); weight, 54.2 kg (77th %ile); OFC, NA; BMI, 23.9 (89th %ile; Z-score 1.25).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient28
2 yrs. 4 mos.
F
Other
No diagnosis of ASD. Developmental milestones: unknown. Birth weight: 4082 g. Neonatal adaption: normal. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 88.2 cm (50-75th %ile); weight, 14 kg (77th %ile); OFC, 47.8 cm (90-97th %ile); BMI, 18 (89th %ile; Z-score 1.24).
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient3
9 yrs. 10 mos.
M
Developmental delay
No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 3370 g. Neonatal adaption: respiratory distress. Mild hypotonia. Eating behavior: avid appetite. Growth parameters: height, 151.6 cm (75-90th %ile); weight, 76.6 kg (>97th %ile); OFC, 54.5 cm (90th %ile); BMI, 33.3 (99th %ile; Z-score 2.5).
Severe mental retardation (IQ 52)
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient4
4 yrs. 11 mos.
M
Developmental delay
No diagnosis of ASD. Developmental milestones: language delay, mild motor delay. Birth weight: 3277 g. Neonatal adaption: failure to thrive, weight decline. Hypotonia. Eating behavior: food aversion. Growth parameters: height, 105.4 cm (54th %ile); weight, 18.1 kg (50th %ile); OFC, 54 cm (98th %ile); BMI, 16.3 (75th %ile; Z-score 0.67).
Mental retardation
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient6
17 yrs. 6 mos.
M
Developmental delay
No diagnosis of ASD. Developmental milestones: language delay, mild motor delay. Birth weight: 3192 g. Neonatal adaption: failure to thrive. Hypotonia. Eating behavior: unknown. Growth parameters: height, 168.4 cm (10-25th %ile); weight, 139.2 kg (>98th %ile); OFC, 60 cm (98th %ile); BMI, 49.09 (>99th %ile; Z-score 3.13).
Mental retardation (IQ 69)
29488679
30088679
600001
GRCh38
Deletion
No
yu_11_nonASD_discovery_cases-patient8
2 yrs. 9 mos.
M
Developmental delay
No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: unknown. Neonatal adaption: failure to thrive, gastro-esphageal reflux. Mild hypotonia. Eating behavior: food obsession, ravenous eating. Growth parameters: height, 87.6 cm (5-10th %ile); weight, 11.09 (3-5th %ile); OFC, 47.5 cm (10-25th %ile); BMI, 15.5 (5th %ile; Z-score -1.61).
Mental retardation
29488679
30088679
600001
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0616-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
28813170
29039870
226701
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0782-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
28736200
29039870
303671
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0384-001
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
28796885
29039870
242986
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case176004
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability, oppositional defiant disorder, adjustment disorder with anxiety and mood issues
28677765
29039870
362106
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case218119
N/A
F
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability, early history of neglect, 3 foster homes before adoption, significant dental problems
29568700
30166607
597908
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case219365
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability, oppositional defiant disorder
29555975
30180527
624553
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case222648
N/A
F
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
28814284
29086798
272515
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case226265
N/A
M
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
29420892
30165199
744308
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0049-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
28455410
29417211
961802
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0229-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
29420892
30166595
745704
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0293-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
29555975
30167085
611111
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_controls-control10490
N/A
F
Control
Control
29401182
30188392
787211
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036021749_
N/A
N/A
Control
No previous psychiatric history
28802777
29072182
269406
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB234785_1007841252
N/A
N/A
Control
No previous psychiatric history
32012659
33966841
1954183
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB338435_1007854144
N/A
N/A
Control
No previous psychiatric history
31990503
34006099
2015597
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB566023_1007854692
N/A
N/A
Control
No previous psychiatric history
32153014
33640395
1487382
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB609347_1007853750
N/A
N/A
Control
No previous psychiatric history
32491547
33327483
835937
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB675955_1007841005
N/A
N/A
Control
No previous psychiatric history
29497049
30320882
823834
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB879700_1007854073
N/A
N/A
Control
No previous psychiatric history
29584162
30208204
624043
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900033_900033
N/A
N/A
Control
No previous psychiatric history
34068162
34110339
42178
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900049_900049
N/A
N/A
Control
No previous psychiatric history
34068162
34106423
38262
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900281_900281
N/A
N/A
Control
No previous psychiatric history
33497153
34042728
545576
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900316_900316
N/A
N/A
Control
No previous psychiatric history
33497153
33827566
330414
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900326_900326
N/A
N/A
Control
No previous psychiatric history
33497153
33827566
330414
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900360_900360
N/A
N/A
Control
No previous psychiatric history
33497153
33827566
330414
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900527_900527
N/A
N/A
Control
No previous psychiatric history
33563814
33896324
332511
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900775_900775
N/A
N/A
Control
No previous psychiatric history
33993220
34137733
144514
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900883_900883
N/A
N/A
Control
No previous psychiatric history
33563814
33896324
332511
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
N/A
N/A
Control
No previous psychiatric history
33563814
33896324
332511
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902586_902586
N/A
N/A
Control
No previous psychiatric history
33563814
33966841
403028
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902605_902605
N/A
N/A
Control
No previous psychiatric history
34006099
34120658
114560
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902606_902606
N/A
N/A
Control
No previous psychiatric history
34006099
34120658
114560
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902617_902617
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902620_902620
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902621_902621
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902622_902622
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902631_902631
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902635_902635
N/A
N/A
Control
No previous psychiatric history
34006099
34120658
114560
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902655_902655
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902676_902676
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902678_902678
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902681_902681
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902684_902684
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902689_902689
N/A
N/A
Control
No previous psychiatric history
34006099
34120658
114560
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902894_902894
N/A
N/A
Control
No previous psychiatric history
33497153
33965705
468553
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_03
NA
NA
Control
NA
NA
33569425
33681850
112426
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_103
NA
NA
Control
NA
NA
33543492
33686865
143374
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_108
NA
NA
Control
NA
NA
33543492
33704215
160724
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_108
NA
NA
Control
NA
NA
33751795
34061182
309388
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_108
NA
NA
Control
NA
NA
32254555
32641445
386891
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_114
NA
NA
Control
NA
NA
33572773
33627407
54635
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_115
NA
NA
Control
NA
NA
33543492
34199966
656475
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_123
NA
NA
Control
NA
NA
32475201
32641445
166245
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_126
NA
NA
Control
NA
NA
33588938
33674276
85339
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_128
NA
NA
Control
NA
NA
33543492
33674281
130790
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_141
NA
NA
Control
NA
NA
33543492
33993056
449565
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_150
NA
NA
Control
NA
NA
32488913
32593327
104415
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_153
NA
NA
Control
NA
NA
33806698
33938723
132026
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_153
NA
NA
Control
NA
NA
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_157
NA
NA
Control
NA
NA
33645076
33732197
87122
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_164
NA
NA
Control
NA
NA
33558649
33627407
68759
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_173
NA
NA
Control
NA
NA
33786843
33968215
181373
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_174
NA
NA
Control
NA
NA
33543492
33681850
138359
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_180
NA
NA
Control
NA
NA
33558649
33627407
68759
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_184
NA
NA
Control
NA
NA
33765215
33968220
203006
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_185
NA
NA
Control
NA
NA
33543492
33905595
362104
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_190
NA
NA
Control
NA
NA
33569425
33993056
423632
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_190
NA
NA
Control
NA
NA
32536305
32593327
57023
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_195
NA
NA
Control
NA
NA
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_195
NA
NA
Control
NA
NA
33765210
33993056
227847
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_196
NA
NA
Control
NA
NA
32254555
32641445
386891
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_196
NA
NA
Control
NA
NA
33543492
34026578
483087
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_197
NA
NA
Control
NA
NA
33543492
33707357
163866
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_202
NA
NA
Control
NA
NA
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_207
NA
NA
Control
NA
NA
32488913
32593893
104981
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_215
NA
NA
Control
NA
NA
33543492
33732197
188706
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_216
NA
NA
Control
NA
NA
32562503
32628096
65594
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_219
NA
NA
Control
NA
NA
33543492
33641848
98357
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_228
NA
NA
Control
NA
NA
32254555
32376847
122293
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_228
NA
NA
Control
NA
NA
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_241
NA
NA
Control
NA
NA
33543492
33681850
138359
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_252
NA
NA
Control
NA
NA
33613376
33681850
68475
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_255
NA
NA
Control
NA
NA
33543492
33717001
173510
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_259
NA
NA
Control
NA
NA
33543492
33763715
220224
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_267
NA
NA
Control
NA
NA
33613376
33686762
73387
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_295
NA
NA
Control
NA
NA
33572773
33681850
109078
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_306
NA
NA
Control
NA
NA
33588923
33682473
93551
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_313
NA
NA
Control
NA
NA
33569425
33674281
104857
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_327
NA
NA
Control
NA
NA
32522764
32593327
70564
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_37
NA
NA
Control
NA
NA
33543492
33707362
163871
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_37
NA
NA
Control
NA
NA
32254555
32641445
386891
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_37
NA
NA
Control
NA
NA
33765220
33829057
63838
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_42
NA
NA
Control
NA
NA
33543492
33686762
143271
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_59
NA
NA
Control
NA
NA
33788677
34095369
306693
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_63
NA
NA
Control
NA
NA
33543492
33828607
285116
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_66
NA
NA
Control
NA
NA
33543492
33605436
61945
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_71
NA
NA
Control
NA
NA
32488913
32567282
78370
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_75
NA
NA
Control
NA
NA
33543492
33623498
80007
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_79
NA
NA
Control
NA
NA
32475502
32593327
117826
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_87
NA
NA
Control
NA
NA
33543492
33685858
142367
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_controls-control100
NA
NA
Control
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control101
NA
NA
Control
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control102
NA
NA
Control
NA
NA
29641178
30191178
550001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control95
NA
NA
Control
NA
NA
28811178
29041178
230001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control96
NA
NA
Control
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control97
NA
NA
Control
NA
NA
28811178
29041178
230001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control98
NA
NA
Control
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control99
NA
NA
Control
NA
NA
29641178
30191178
550001
GRCh38
Deletion
NA
girirajan_13a_ASD_discovery_controls3-control19
N/A
N/A
Control
N/A
N/A
29506178
30356178
850001
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control20
N/A
N/A
Control
N/A
N/A
29506178
30356178
850001
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control21
N/A
N/A
Control
N/A
N/A
29506178
30356178
850001
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control22
N/A
N/A
Control
N/A
N/A
29506178
30356178
850001
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control23
N/A
N/A
Control
N/A
N/A
29506178
30356178
850001
GRCh38
Unknown
No
girirajan_13b_ASD_discovery_controls-10908109454
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33807175
33968215
161041
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12508109518
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33806873
33993056
186184
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-1306105504
N/A
N/A
Control
Ethnicity: Hispanic
N/A
32488913
32592656
103744
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-15110112933
N/A
N/A
Control
Ethnicity: Hispanic
N/A
33688579
33744361
55783
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-24809111471
N/A
N/A
Control
Ethnicity: Hispanic
N/A
33765541
33993056
227516
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-25205103118
N/A
N/A
Control
Ethnicity: Caucasian
N/A
32488913
32593327
104415
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-25205103118
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33814559
33968220
153662
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-26405103148
N/A
N/A
Control
Ethnicity: Hispanic
N/A
33805667
34061182
255516
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-30109111610
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33762057
34026578
264522
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-306105441
N/A
N/A
Control
Ethnicity: Hispanic
N/A
33806873
33968220
161348
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-30706106486
N/A
N/A
Control
Ethnicity: Caucasian
N/A
32562498
32619369
56872
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-33006106538
N/A
N/A
Control
Ethnicity: Asian
N/A
35241748
35649178
407431
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-34107108649
N/A
N/A
Control
Ethnicity: Asian
N/A
33572773
33681850
109078
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-34108110389
N/A
N/A
Control
Ethnicity: Caucasian
N/A
32488913
32593327
104415
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-3506105586
N/A
N/A
Control
Ethnicity: Caucasian
N/A
32475497
32593327
117831
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-36206106646
N/A
N/A
Control
Ethnicity: African American
N/A
32475201
32618287
143087
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-36206106646
N/A
N/A
Control
Ethnicity: African American
N/A
33807175
34163037
355863
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-37205104108
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
33592037
33648650
56614
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-40804101794
N/A
N/A
Control
Ethnicity: Hispanic
N/A
32522764
32641445
118682
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-45304101644
N/A
N/A
Control
Ethnicity: African American
N/A
30345926
30816915
470990
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-47006107031
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33635593
33707362
71770
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-4906105609
N/A
N/A
Control
Ethnicity: Caucasian
N/A
32488913
32593327
104415
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-51406107186
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33765210
33968220
203011
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-52809112566
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33765531
34061182
295652
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-53306107454
N/A
N/A
Control
Ethnicity: African American
N/A
33807175
34199966
392792
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-54606107478
N/A
N/A
Control
Ethnicity: Caucasian
N/A
32309484
32434215
124732
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-56606107560
N/A
N/A
Control
Ethnicity: Asian
N/A
33627407
33685584
58178
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-69405105404
N/A
N/A
Control
Ethnicity: Caucasian
N/A
28603090
29334936
731847
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-8206105715
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33683117
33763715
80599
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-8808109366
N/A
N/A
Control
Ethnicity: Hispanic
N/A
32536305
32593327
57023
GRCh38
Deletion
No
glessner_09_ASD_discovery_controls-disccontrol2
NA
Control
NA
NA
29636022
30166486
530465
GRCh38
Deletion
No
glessner_09_ASD_discovery_controls-disccontrol3
NA
Control
NA
NA
29636022
30166486
530465
GRCh38
Deletion
No
glessner_09_ASD_discovery_controls-disccontrol4
NA
Control
NA
NA
29636022
30166486
530465
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol5
NA
Control
NA
NA
29636022
30166486
530465
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol6
NA
Control
NA
NA
29636022
30166486
530465
GRCh38
Duplication
No
golzio_12_ASD_discovery_controls-control1
NA
NA
Control
NA
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_controls-control2
NA
NA
Control
NA
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_controls-control3
NA
NA
Control
NA
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_controls-control4
NA
NA
Control
NA
NA
NA
NA
118000
NCBI36
Deletion
No
golzio_12_ASD_discovery_controls-control5
NA
NA
Control
NA
NA
NA
NA
118000
NCBI36
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0001
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
29638675
30188534
549860
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0002
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
29638675
30188534
549860
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0003
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
29638675
30188534
549860
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0004
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
29638675
30188534
549860
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0005
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
29638675
30188534
549860
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0006
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
29638675
30188534
549860
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0007
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
29638675
30188534
549860
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0008
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
29638675
30188534
549860
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0009
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
29638675
30188534
549860
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11229.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11229. SRS score of 48.
31465849
31476562
10714
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control12152.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12152. SRS score of 42.
30781717
30838384
56668
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11229.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31465849
31476562
10714
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12152.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
30781717
30838384
56668
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12220.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31465849
31477010
11162
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13171.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31465849
31477576
11728
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13509.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
29663728
30188576
524849
GRCh38
Duplication
Yes
kumar_08_ASD_replication_controls-04C34861
NA
Control
NA
NA
29681178
30281178
600001
GRCh38
Duplication
Yes
kumar_08_ASD_replication_controls-04C36902
NA
Control
NA
NA
29681178
30281178
600001
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0451
54 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
29595090
30184960
589871
GRCh38
Duplication
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1741
26 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
28715727
29028262
312536
GRCh38
Duplication
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0451
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
29595089
30184960
589872
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU002904
N/A
F
Control
Unaffected sibling
29635679
30166679
531001
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11555.s1
NA
F
Control
NA
NA
28117284
28257621
140338
GRCh38
Duplication
No
mccarthy_09_SCZ_discovery_controls-control11158E8
NA
F
Control
NA
NA
29641167
30007179
366013
GRCh38
Duplication
Yes
mccarthy_09_SCZ_discovery_controls-control129998A
NA
M
Control
NA
NA
29641167
30308986
667820
GRCh38
Deletion
Yes
mccarthy_09_SCZ_discovery_controls-control15051D6
NA
M
Control
NA
NA
29641167
30308986
667820
GRCh38
Deletion
Yes
mccarthy_09_SCZ_discovery_controls-control15387D8
NA
M
Control
NA
NA
29641167
30308986
667820
GRCh38
Deletion
Yes
mccarthy_09_SCZ_replication_controls-control36604
NA
F
Control
NA
NA
29390980
30166486
775507
GRCh38
Deletion
Yes
mccarthy_09_SCZ_replication_controls-control39636
NA
M
Control
NA
NA
29506378
30180574
674197
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C29553A
N/A
M
Control
NIMH Control (NIMH ID 95894)
28592261
28595932
3672
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C30251A
N/A
M
Control
NIMH Control (NIMH ID 18125)
28825364
29359337
533974
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C32922A
N/A
F
Control
NIMH Control (NIMH ID 69272)
29871697
29878427
6731
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C38506A
N/A
F
Control
NIMH Control (NIMH ID 76095)
29663727
30188578
524852
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C45724
N/A
F
Control
NIMH Control (NIMH ID 98250)
28701187
28990014
288828
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control11
N/A
N/A
Control
Control
29488679
30088679
600001
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11000.s1
16.8
F
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11013.s1
7.4
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11045.s1
5.1
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11049.s1
9.8
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11051.s1
9.6
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11052.s1
7.9
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11090.s1
14.8
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11110.s1
16.8
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11120.s1
11.3
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11121.s1
16.2
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11176.s1
8.8
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11190.s1
6.8
F
Control (matched sibling)
NA
NA
28371348
28414890
43543
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11193.s1
4.8
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11208.s1
11.4
F
Control (matched sibling)
NA
NA
28371348
28414890
43543
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11208.s1
11.4
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11218.s1
8.5
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
29672266
29681093
8828
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11242.s1
10.6
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11247.s1
4.7
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11257.s1
4.1
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11262.s1
4.8
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11263.s1
15.9
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11298.s1
13.4
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11310.s1
9.5
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11316.s1
13.3
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11324.s1
13
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11333.s1
6.9
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11346.s1
12.9
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11348.s1
9.2
F
Control (matched sibling)
NA
NA
28602644
28607988
5345
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11350.s1
6.1
M
Control (matched sibling)
NA
NA
28622678
28790026
167349
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11355.s1
5.4
F
Control (matched sibling)
NA
NA
30972891
30975823
2933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11356.s1
9.3
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11359.s1
11.6
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11391.s1
18.1
M
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11425.s1
5.5
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11432.s1
8.1
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11459.s1
14.3
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11462.s1
6.5
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11471.s1
7.8
F
Control (matched sibling)
NA
NA
28590939
28605344
14406
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11489.s1
15.8
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11495.s1
7.5
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11524.s1
17.3
M
Control (matched sibling)
NA
NA
28371348
28414890
43543
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11546.s1
11.2
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11563.s1
9.3
F
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11572.s1
14.3
F
Control (matched sibling)
NA
NA
28602644
28607988
5345
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11581.s1
6.8
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
28602644
28609431
6788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11634.s1
9.9
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11667.s1
8.3
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11707.s1
15.1
F
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11721.s1
6.9
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11788.s1
11.5
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11808.s1
12.2
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
28604387
28609431
5045
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11919.s1
6.7
M
Control (matched sibling)
NA
NA
30972891
30975823
2933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
29488903
29555478
66576
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11939.s1
12.4
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11940.s1
6.5
M
Control (matched sibling)
NA
NA
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11972.s1
5.2
F
Control (matched sibling)
NA
NA
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12036.s1
5.9
F
Control (matched sibling)
NA
NA
28605344
28609431
4088
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12091.s1
7.2
M
Control (matched sibling)
NA
NA
28709499
28750518
41020
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12130.s1
8.4
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12152.s1
6.8
M
Control (matched sibling)
NA
NA
30784379
30859636
75258
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
28604387
28609431
5045
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12281.s1
18.1
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12313.s1
9.8
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12323.s1
4
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
28604387
28609431
5045
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12366.s1
7.8
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12407.s1
4.8
F
Control (matched sibling)
NA
NA
28605344
28609431
4088
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12457.s1
5.6
M
Control (matched sibling)
NA
NA
28603480
28607988
4509
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12478.s1
14.5
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12534.s1
4.7
F
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12541.s1
8.3
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12568.s1
15.7
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12579.s1
7.8
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12581.s1
15.7
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12630.s1
8
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12631.s1
18.8
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12676.s1
9.2
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12735.s1
9.1
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12759.s1
5.8
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12785.s1
16.8
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12786.s1
4.9
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
28603922
28609431
5510
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12836.s1
4.2
M
Control (matched sibling)
NA
NA
28597166
28609431
12266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
28604387
28609431
5045
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12930.s1
14.8
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12984.s1
12
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13012.s1
4.3
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13015.s1
7.1
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
28603922
28607988
4067
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13072.s1
8.7
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
28603480
28609431
5952
GRCh38
Duplication
No
soueid_16_ASD_discovery_controls-control5
N/A
N/A
Control
35215223
35521445
306223
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_controls-Berk1785
76
F
Control
29666830
30481632
814803
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_controls-Berk5272
60
M
Control
29666830
30124527
457698
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Berk1785
76
F
Control
29666830
30481632
814803
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Berk5272
60
M
Control
29666830
30124527
457698
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Berk1785
76
F
Control
29666830
30481632
814803
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Berk5272
60
M
Control
29666830
30124527
457698
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Berk1785
76
F
Control
29666830
30481632
814803
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Berk5272
60
M
Control
29666830
30124527
457698
GRCh38
Duplication
No
ahn_13_SCZ_discovery_cases-NSB_ID2011
Validation based on familial presence of CNV
Paternal
Unknown
Unknown
CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
ahn_13_SCZ_discovery_cases-NSB_ID676
Validation based on familial presence of CNV
Paternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case09DG00498
Unknown
Unknown
Unknown
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2239
Unknown
Unknown
Unknown
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0756
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case37
Unknown
Unknown
IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,HERC2P4,HERC2P5
asadollahi_14_NDD_discovery_cases-case64717
MLPA
Maternal
Unknown
Unknown
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
badar_22_DD_discovery_cases-caseTwinA
Both parents
Multiplex
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,YPEL3-DT,SPN,TBX6,RN7SKP127,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CDIPT,QPRT
badar_22_DD_discovery_cases-caseTwinB
Both parents
Multiplex
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,YPEL3-DT,SPN,TBX6,RN7SKP127,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CDIPT,QPRT
bartnik_12_EP_discovery_cases-case10
Unknown (not maternal)
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
bassuk_13_ID/EP_discovery_cases-case1
Maternal
Maternal
Multi-generational
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
bassuk_13_ID/EP_discovery_cases-case2
Maternal
Maternal
Multi-generational
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
bassuk_13_ID/EP_discovery_cases-case3
Unknown (not maternal)
Multi-generational
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
bena_13_ASD/DD/ID_discovery_cases-case20
FISH, MLPA
De novo
Unknown
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
beunders_13_DD/ID/ASD_discovery_cases-case17
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
brandler_18_ASD_discovery_cases-caseMT_86.3
PCR or SNP data validation (SNP VCF)
De novo
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
breckpot_16_ID/catatonia_discovery_cases-case4
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
bremer_11_ASD_discovery_cases-case5
MLPA, FISH
Paternal
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
bremer_11_ASD_discovery_cases-case6
MLPA, FISH
Unknown (not maternal)
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
calderoni_20_ASD_discovery_cases-caseP20
qPCR
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
celestino-soper_11_ASD_discovery_cases-11378
aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,HERC2P5
chan_22_ASD_discovery_cases-case3-0133-000
Maternal
CA5AP1,ALDOA,SEZ6L2,SLX1B,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,NPIPB12,CDIPTOSP,SMG1P2,SMG1P5,BOLA2,SULT1A4,NPIPB13,SLX1A,ZG16,BOLA2B,KIF22,MAZ,SMG1P6,SLX1A-SULT1A3,SLX1B-SULT1A4,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SULT1A3,SPN,TBX6,RN7SKP127,CORO1A-AS1,BOLA2-SMG1P6,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
chan_22_ASD_discovery_cases-case3-0269-000
Maternal
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
chan_22_ASD_discovery_cases-case3-0406-000
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,SMG1P5,NPIPB13,SLX1A,ZG16,BOLA2B,KIF22,MAZ,SLX1A-SULT1A3,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SULT1A3,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
chaves_19_ASD/DD/ID_discovery_cases-case15
Unknown
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
chaves_19_ASD/DD/ID_discovery_cases-case16
Unknown
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,EIF3C,ATXN2L,NFATC2IP,RRN3P2,SNX29P2
chaves_19_ASD/DD/ID_discovery_cases-case296
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
chehbani_22_ASD_discovery_cases-case41
Unknown
Simplex
ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
chen_17_ASD_discovery_cases-caseU-2233
RT-qPCR
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
christian_08_ASD_discovery_cases-AU0154303
FISH, microsatellite, qPCR
de novo
Multiplex
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
christian_08_ASD_discovery_cases-AU029803
FISH, microsatellite
de novo
Multiplex
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
christian_08_ASD_discovery_cases-AU041905
FISH, microsatellite
de novo
Multiplex
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A
christian_08_ASD_discovery_cases-AU0938301
FISH, microsatellite
de novo
Multiplex
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,BMS1P8
ciuladaite_11_ASD/DD_discovery_cases-case1
RT-PCR
Maternal
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
ciuladaite_11_ASD/DD_discovery_cases-case2
RT-PCR
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
crepel_11_ASD_discovery_cases-case1
Affy 6.0, qPCR
Maternal
Multiplex
Not segregated
CDIPT,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,SEZ6L2
crepel_11_ASD_discovery_cases-case2
Affy 6.0
Unknown
NA
NA
27 genes
cucinotta_23_ASD_discovery_cases-case436
De novo
ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
davis_09_ASD_discovery_cases-AU008404
Unknown
Unknown
Unknown
0 genes
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
FGFR3P5,FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,FRG2IP,LINC01566,AGGF1P4
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P4,HERC2P5
dell'edera_18_MCA_discovery_cases-case1
FISH
Maternal
Maternal
Multi-generational
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_266890
qPCR
Maternal
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_299882
qPCR
De novo
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_299883
qPCR
Maternal
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_299891
qPCR
Paternal
NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2
digregorio_17_DD/ID_discovery_cases-DECIPHER_299967
qPCR
De novo
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_300528
qPCR
De novo
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_300531
qPCR
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_300535
qPCR
Maternal
Maternal
Multi-generational
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_300562
qPCR
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_300563
qPCR
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_300564
qPCR
De novo
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
digregorio_17_DD/ID_discovery_cases-DECIPHER_300573
qPCR
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
digregorio_17_DD/ID_discovery_cases-DECIPHER_300609
qPCR
Maternal
Maternal
Multi-generational
ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NFATC2IP
du_21_ASD/DD/ID_discovery_cases-case313
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
du_21_ASD/DD/ID_discovery_cases-case488
Unknown
CA5AP1,SLC7A5P1,SMG1P2,MIR3680-2,SPN,QPRT
du_21_ASD/DD/ID_discovery_cases-case488
Unknown
ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,TBX6,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT
egger_14_ASD_discovery_cases-case1
De novo
Simplex
Segregated
APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,SNX29P2
egger_14_ASD_discovery_cases-caseA136
qPCR
De novo
Possibly segregated
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
engchuan_15_ASD_discovery_cases-case1195_4
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,BMS1P8
engchuan_15_ASD_discovery_cases-case13219_2413
Unknown
engchuan_15_ASD_discovery_cases-case14018_380
Unknown
IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,HERC2P4,HERC2P5
engchuan_15_ASD_discovery_cases-case14388_4970
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_cases-case18153_301
Unknown
engchuan_15_ASD_discovery_cases-case20089_1391001
De novo
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
engchuan_15_ASD_discovery_cases-case20127_4014001
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
engchuan_15_ASD_discovery_cases-case2187_1
Unknown
IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1,HERC2P4,HERC2P5
engchuan_15_ASD_discovery_cases-case2204_1
De novo
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A
engchuan_15_ASD_discovery_cases-case2276_1
Unknown
engchuan_15_ASD_discovery_cases-case3211_3
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
engchuan_15_ASD_discovery_cases-case3544_3
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
engchuan_15_ASD_discovery_cases-case3546_3
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_cases-case3586_3
Unknown
engchuan_15_ASD_discovery_cases-case4030_1
De novo
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
engchuan_15_ASD_discovery_cases-case5068_3
De novo
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
engchuan_15_ASD_discovery_cases-case5139_3
Unknown
ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,HERC2P5
engchuan_15_ASD_discovery_cases-case5262_4
De novo
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
engchuan_15_ASD_discovery_cases-case5277_3
Unknown
SPN,QPRT
engchuan_15_ASD_discovery_cases-case5359_4
De novo
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
engchuan_15_ASD_discovery_cases-case5382_3
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
engchuan_15_ASD_discovery_cases-case5416_3
Unknown
ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,HERC2P5
engchuan_15_ASD_discovery_cases-case8491_202
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_cases-case8541_201
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_cases-case8581_201
Unknown
DUX4L45,PCMTD1P2,DUX4L46,DUX4L47,LINC00273,RNA5-8SP2
engchuan_15_ASD_discovery_cases-case9619_201
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
fan_19_ASD_discovery_cases-caseASD386
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case1
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case10
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case11
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case2
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case3
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case4
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case5
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case6
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case7
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case8
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
fedorenko_15_CAS_discovery_cases-case9
CNV validation not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
feliciano_19_ASD_discovery_cases-caseSP0002040
Paternal
Simplex
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
null
feliciano_19_ASD_discovery_cases-caseSP0003496
Maternal
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
null
feliciano_19_ASD_discovery_cases-caseSP0009634
De novo
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
null
feliciano_19_ASD_discovery_cases-caseSP0012371
De novo
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
null
feliciano_19_ASD_discovery_cases-caseSP0030419
De novo
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
null
feliciano_19_ASD_discovery_cases-caseSP0040523
Maternal
Simplex
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
null
fernandez_10_ASD_discovery_cases-proband1
qPCR, FISH
De novo
Multiplex (sibling with ASD)
Not segregated
fernandez_10_ASD_discovery_cases-proband2
qPCR, FISH
De novo
Multiplex (sibling with Aspberger syndrome)
Not segregated
fernandez_10_ASD_discovery_cases-proband3
qPCR, FISH
Maternal
Multiplex
Segregated
fernandez_10_ASD_discovery_cases-proband4
qPCR, FISH
De novo
Simplex
NA
fernandez_10_ASD_discovery_cases-proband5
qPCR, FISH
Maternal
Simplex
NA
fernandez_10_ASD_discovery_cases-proband6
qPCR, FISH
Paternal
NA
NA
fetit_20_ASD_discovery_cases-case1
Unknown
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,BOLA2B,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SLX1A,SLX1A-SULT1A3,SEZ6L2,DOC2A
fetit_20_ASD_discovery_cases-case2
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
fetit_20_ASD_discovery_cases-case3
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
fitzgerald_14_ASD/DD/ID_discovery_cases-case000007
De novo
Unknown
Unknown
APOBR,CLN3,IL27
fitzgerald_14_ASD/DD/ID_discovery_cases-case000008
De novo
Unknown
Unknown
ATXN2L
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER257813
Maternal
Maternal
Multi-generational
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260234
Paternal
Simplex
Unknown
HIRIP3,C16orf92,TAOK2,INO80E,FAM57B,DOC2A
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262872
Maternal
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A
fry_16_DD/ID/EP/ASD_discovery_cases-caseR404
Solid phase hybridization (Illumina), FISH
De novo
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
gai_11_ASD_replication_cases-AU002903
Inherited
SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, GIYD2, GIYD1, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC440354, LOC595101, CD2BP2, TBC1D10B, MYLPF, SEPT1, ZNF48
gannon_11_ASD/DD_discovery_cases-patientR
Unknown
Unknown
NA
gazzellone_14_ASD_discovery_cases-case503-3
qPCR or Taqman assay
De novo
Unknown
Possibly segregated
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_11_ASD_discovery_cases-Si142
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si145
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si155
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si16
Unknown
Simplex
TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13
girirajan_11_ASD_discovery_cases-Si162
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si162
Unknown
Simplex
TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13
girirajan_11_ASD_discovery_cases-Si164
Unknown
Simplex
TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13
girirajan_11_ASD_discovery_cases-Si167
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si173
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si175
Unknown
Simplex
MIR3680-2,SLC7A5P1,SPN,SMG1P2,QPRT,CA5AP1
girirajan_11_ASD_discovery_cases-Si175
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_11_ASD_discovery_cases-Si175
De novo
Simplex
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
girirajan_11_ASD_discovery_cases-Si177
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si180
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si183
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si184
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si188
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si196
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si209
Unknown
Simplex
ABCD1P3
girirajan_11_ASD_discovery_cases-Si21
Unknown
Simplex
ACTR3BP3,ABCD1P3,PABPC1P13
girirajan_11_ASD_discovery_cases-Si222
Unknown
Simplex
TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13
girirajan_11_ASD_discovery_cases-Si224
Unknown
Simplex
ABCD1P3
girirajan_11_ASD_discovery_cases-Si225
Unknown
Simplex
ABCD1P3
girirajan_11_ASD_discovery_cases-Si225
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si226
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si226
Unknown
Simplex
FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,RARRES2P8,FRG2IP,LINC01566,AGGF1P4
girirajan_11_ASD_discovery_cases-Si228
Unknown
Simplex
ABCD1P3
girirajan_11_ASD_discovery_cases-Si24
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si245
Unknown
Simplex
ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_11_ASD_discovery_cases-Si245
Unknown
Simplex
SPN,QPRT
girirajan_11_ASD_discovery_cases-Si245
De novo
Simplex
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
girirajan_11_ASD_discovery_cases-Si254
Unknown
Simplex
ABCD1P3
girirajan_11_ASD_discovery_cases-Si254
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si266
Unknown
Simplex
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
girirajan_11_ASD_discovery_cases-Si273
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si3
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si30
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si319
Unknown
Simplex
ABCD1P3
girirajan_11_ASD_discovery_cases-Si37
Unknown
Simplex
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,ARHGAP23P1
girirajan_11_ASD_discovery_cases-Si4
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si55
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si65
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si68
Unknown
Simplex
TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13
girirajan_11_ASD_discovery_cases-Si74
Unknown
Simplex
BMS1P8
girirajan_11_ASD_discovery_cases-Si78
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si80
Unknown
Simplex
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,BMS1P8
girirajan_11_ASD_discovery_cases-Si84
Unknown
Simplex
ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_11_ASD_discovery_cases-Si84
De novo
Simplex
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
girirajan_11_ASD_discovery_cases-Si84
Unknown
Simplex
SPN,QPRT
girirajan_12_ASD/DD/ID_discovery_cases-case1087
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1088
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1089
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1090
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1091
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1092
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1093
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1094
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1095
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1096
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1097
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1098
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1099
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1100
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1101
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1102
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1103
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1104
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1105
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1106
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1107
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1108
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1109
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1110
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1111
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1112
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1113
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1114
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1115
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1116
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1117
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1118
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1119
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1120
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1121
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1122
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1123
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1124
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1125
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1126
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1127
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1128
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1129
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1130
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1131
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1132
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1133
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1134
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1135
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1136
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1137
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1138
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1139
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1140
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1141
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1142
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1143
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1144
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1145
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1146
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1147
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1148
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1149
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1150
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1151
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1152
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1153
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1154
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1155
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1156
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1157
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1158
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1159
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1160
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1161
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1162
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1163
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1164
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1165
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1166
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1167
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1168
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1169
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1170
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1171
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1172
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1173
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1174
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1175
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1176
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1177
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1178
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1179
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1180
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1181
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1182
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1183
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1184
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1185
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1186
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1187
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1188
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1189
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1190
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1191
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1192
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1193
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1194
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1195
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1196
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1197
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1198
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1199
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1200
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1201
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1202
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1203
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1204
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1205
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1206
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1207
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1208
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1209
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1210
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1211
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1212
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1213
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1214
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1215
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1216
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1217
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1218
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1219
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1220
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1221
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1222
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1223
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1224
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1225
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1226
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1227
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1228
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1229
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1230
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1231
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1232
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1233
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1234
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1235
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1236
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1237
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1238
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1239
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1240
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1241
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1242
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1243
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1244
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1245
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1246
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1247
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1248
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1249
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1250
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1251
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1252
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1253
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1254
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1255
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1256
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1257
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1258
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1259
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1260
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1261
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1262
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1263
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1264
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1265
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1266
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1267
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1268
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1269
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1270
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1271
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1272
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1273
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1274
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1275
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1276
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1277
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1278
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1279
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1280
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1281
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1282
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1283
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1284
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1285
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1286
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1287
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1288
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1289
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1290
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1291
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1292
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1293
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1294
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1295
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1296
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1297
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1298
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1299
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1300
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1301
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1302
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1303
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1304
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1305
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1306
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1307
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1308
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1309
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1310
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1311
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1312
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1313
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1314
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1315
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1316
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1317
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1318
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1319
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1320
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1321
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case21897
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case23022
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case23022
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case23391
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case23858
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case24333
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case26056
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case27819
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case28324
FISH, aCGH, or confirmation by inheritance
Unknown
Multiplex for ADHD
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case29163
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case34299
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case36479
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case36901
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case38700
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case39824
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case42267
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case42275
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case43001
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case43248
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case46810
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case47954
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case49331
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case49557
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case51237
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case51323
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case55326
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case5609
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case57872
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case61119
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case66870
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case67970
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case9460
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_13a_ASD_discovery_cases-11090.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-11433.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-11540.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-11629.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-12010.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-12308.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-12417.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-12435.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-12736.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-13335.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-13487.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-13491.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-13509.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_cases-14004.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
FAM57B
girirajan_13a_ASD_discovery_cases-14023.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase210
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase211
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase212
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase213
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase214
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase215
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase216
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase217
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase218
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase219
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase220
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase221
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase222
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase223
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase224
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase225
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase226
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase227
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase228
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase229
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase230
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase231
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase232
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase233
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase234
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase235
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase236
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase237
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase238
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase239
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase240
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase241
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase242
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase243
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase244
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase245
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase246
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase247
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase248
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase249
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase250
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase251
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase252
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase253
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase254
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase255
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase256
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase257
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase258
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase259
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase260
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase261
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase262
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase263
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase264
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase265
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase266
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase267
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase268
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase269
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase270
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase271
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase272
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase273
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase274
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase275
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase276
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase277
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase278
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase279
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase280
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase281
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase282
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase283
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase284
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase285
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase286
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase287
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase288
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase289
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase290
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase291
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase292
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase293
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase294
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase295
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase296
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase297
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase298
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase299
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase300
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_DD_discovery_cases-DDcase301
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13b_ASD_discovery_cases-10007107879
Unknown
Unknown
Unknown
FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,RARRES2P8,AGGF1P7,C1QL1P1,KIF18BP1,FRG2IP,C2orf69P1,LINC01566,AGGF1P4
girirajan_13b_ASD_discovery_cases-12308109510
Unknown
Unknown
Unknown
TP53TG3GP,RARRES2P5,FGFR3P5,FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,FRG2IP,LINC01566,AGGF1P4
girirajan_13b_ASD_discovery_cases-15008109638
Unknown
Unknown
Unknown
BMS1P8
girirajan_13b_ASD_discovery_cases-15910112885
Unknown
Unknown
Unknown
FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,RARRES2P8,AGGF1P7,C1QL1P1,KIF18BP1,FRG2IP,C2orf69P1,LINC01566,AGGF1P4
girirajan_13b_ASD_discovery_cases-16709111253
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-20008109910
Unknown
Unknown
Unknown
BMS1P8
girirajan_13b_ASD_discovery_cases-20604100546
Unknown
Unknown
Unknown
FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,RARRES2P8,AGGF1P7,C1QL1P1,KIF18BP1,FRG2IP,C2orf69P1,LINC01566,AGGF1P4
girirajan_13b_ASD_discovery_cases-21707108167
Unknown
Unknown
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_cases-22505104145
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-25209111475
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-25804100823
Unknown
Unknown
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11
girirajan_13b_ASD_discovery_cases-28309111551
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-28506106267
Unknown
Unknown
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_cases-31008110295
Unknown
Unknown
Unknown
ACTR3BP3,PABPC1P13
girirajan_13b_ASD_discovery_cases-31008110295
Unknown
Unknown
Unknown
BMS1P8
girirajan_13b_ASD_discovery_cases-3309110754
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-40406106815
Unknown
Unknown
Unknown
BMS1P8
girirajan_13b_ASD_discovery_cases-42506106873
Unknown
Unknown
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_cases-45905104126
Unknown
Unknown
Unknown
TP53TG3D
girirajan_13b_ASD_discovery_cases-46805104136
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-49906107136
Unknown
Unknown
Unknown
BMS1P8
girirajan_13b_ASD_discovery_cases-51604101884
Unknown
Unknown
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13
girirajan_13b_ASD_discovery_cases-52904101932
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-57804101558
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-60504102200
Unknown
Unknown
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,ARHGAP23P1
girirajan_13b_ASD_discovery_cases-62005104652
Unknown
Unknown
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_cases-65004102035
Unknown
Unknown
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_cases-708108819
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-8203100466
aCGH (Agilent hotspot 2x400K)
Paternal
Unknown
Unknown
MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,EIF3C,ATXN2L,NFATC2IP,RRN3P2
glessner_09_ASD_discovery_cases-1108_004
Array SNP
Unknown
Unknown
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_discovery_cases-13798_65634
Array SNP
Unknown
Unknown
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_discovery_cases-15301_69339
Array SNP
Unknown
Unknown
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_discovery_cases-6989_42225
Array SNP
Unknown
Unknown
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_discovery_cases-71-001-07C64102A
Array SNP
Unknown
Unknown
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU002903
Array SNP
Maternal
Multiplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU002905
Array SNP
Maternal
Multiplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU011004
Array SNP
Unknown (possible de novo)
Multiplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU0154302
Array SNP
Unknown (possible de novo)
Multiplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU0154303
Array SNP
Unknown (possible de novo)
Multiplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU029803
Array SNP
Unknown (possible de novo)
Multiplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU032704
Array SNP
Paternal
Multiplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU032705
Array SNP
Paternal
Multiplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU032706
Array SNP
Paternal
Multiplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU032707
Array SNP
Paternal
Multiplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU041905
Array SNP
Unknown (possible de novo)
Multiplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_replication_cases-AU0938301
Array SNP
Unknown (possible de novo)
Multiplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
golzio_12_ASD_discovery_cases-case1
aCGH
Maternal
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP,RRN3P2
golzio_12_ASD_discovery_cases-case1
qPCR, aCGH
De novo
Unknown
Possibly segregated
KCTD13, exons 3-5
golzio_12_ASD_discovery_cases-case2
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case3
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case4
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case5
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case6
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case7
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case8
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case9
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
griswold_12_ASD_discovery_cases-case17416
qPCR
Paternal
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
griswold_12_ASD_discovery_cases-case3574
qPCR
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
griswold_12_ASD_discovery_cases-case7740
qPCR
De novo
Multiplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
guo_17_ASD_discovery_cases-caseM8302
qPCR
De novo
ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,HERC2P4,HERC2P5
guo_18_ASD/DD/ID_discovery_cases-caseBK-125-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-187-03
aCGH, Sanger sequencing
De novo
Multiplex
Not segregated (1/2 cases)
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-313-04
aCGH, Sanger sequencing
Paternal
Multiplex
Not segregated
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-354-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-378-03
aCGH, Sanger sequencing
Maternal
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-398-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-428-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
guo_18_ASD/DD/ID_discovery_cases-caseBK-473-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
han_22_ASD/DD/ID_discovery_cases-case15D2762
De novo
CA5AP1,ALDOA,SEZ6L2,SLX1B,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,NPIPB12,CDIPTOSP,SNX29P2,SMG1P2,BOLA2,SULT1A4,ZG16,NPIPB11,KIF22,MAZ,SMG1P6,SLX1B-SULT1A4,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,BOLA2-SMG1P6,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CDIPT,QPRT
han_22_ASD/DD/ID_discovery_cases-case19D0355
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CDIPT,QPRT
husson_20_ASD_discovery_cases-case392
ddPCR, QMPSF, or aCGH
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
husson_20_ASD_discovery_cases-case405
ddPCR, QMPSF, or aCGH
De novo
Familial
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
hu_22_ASD_discovery_cases-case3
Unknown
ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,INO80E,CDIPTOSP,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,TBX6,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT
itsara_10_ASD_discovery_cases-HI0624
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
itsara_10_ASD_discovery_cases-HI0899
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
itsara_10_ASD_discovery_cases-HI2466
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
itsara_10_ASD_discovery_cases-HI2467
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
itsara_10_ASD_discovery_cases-HI2997
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
jiao_19_EP/DD/ID_discovery_cases-caseDD18005592
De novo
Simplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,ALDOA,PPP4C,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
jiao_19_EP/DD/ID_discovery_cases-caseDD18010938
De novo
Simplex
Segregated
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000129
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000189
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000193
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000349
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000377
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000482
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000735
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000853
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000854
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000893
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000966
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000999
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001037
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001070
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001109
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001114
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001119
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001136
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001155
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001162
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001201
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001236
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001284
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001581
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001630
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001646
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001652
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001658
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001719
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001727
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001732
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001793
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,SBK1,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001910
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SEPHS2,RNU7-61P,MIR4518,ZNF768,ZNF747,TBC1D10B,MYLPF,ZNF48,SEPT1,DCTPP1,ITGAL,ZNF764,ZNF688,ZNF771
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001919
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002059
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002075
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002093
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002101
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002110
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002124
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002126
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002140
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002190
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002219
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002231
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002263
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002346
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002355
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002365
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002377
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002387
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002407
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002428
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002448
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002473
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002475
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002480
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002512
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002519
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,SGF29,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002559
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002658
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002694
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002701
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002727
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002766
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002770
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003775
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003785
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003806
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003830
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003842
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003861
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003917
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003922
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003932
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004002
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004036
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004099
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004127
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004177
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004199
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004218
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004243
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004290
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004293
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004300
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004319
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004330
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004391
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004416
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004448
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004479
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004490
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004500
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004505
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004507
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004509
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004529
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004541
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004566
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004589
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004593
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004684
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004773
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004782
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004787
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,GSG1L,XPO6,SGF29,SBK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004788
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004888
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004890
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004904
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004925
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004944
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004946
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004953
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004992
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005018
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005026
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005041
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005094
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005099
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005107
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005113
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,SGF29,EIF3C,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005125
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005153
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005219
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005264
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005300
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005363
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005434
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
kim_18_DD/ID_discovery_cases-case14
De novo
Multiplex
Segregated (CNV present in both affected siblings)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kim_18_DD/ID_discovery_cases-case15
De novo
Multiplex
Segregated (CNV present in both affected siblings)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kino_12_ASD_discovery_cases-case1
FISH, qPCR
Unknown
Unknown
Unknown
SLC7A5P1,SPN,QPRT,C16orf54,ZG16,KIF22,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,BOLA2B,BOLA2,SLX1B,SLX1A,SULT1A4,SULT1A3,CD2BP2,TBC1D10B,MYLPF,SEPT1,ZNF48,ZNF771,DCTPP1,SEPHS2,ITGAL,ZNF768,ZNF747,ZNF764,ZNF688,ZNF785,ZNF689,PRR14,FBRS
Reduced mRNA expression of ZNF764, DUSP1, GILZ, NFKBIA, SGK1, ZFP36, KIF9, G6PD, and ME1.
krumm_13_ASD_discovery_cases-case11090.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_13_ASD_discovery_cases-case11229.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Not segregated
ARMC5,TGFB1I1
krumm_13_ASD_discovery_cases-case11433.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_13_ASD_discovery_cases-case11629.p1
Maternal
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_13_ASD_discovery_cases-case12100.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_13_ASD_discovery_cases-case12308.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_13_ASD_discovery_cases-case12736.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
krumm_13_ASD_discovery_cases-case13509.p1
Paternal
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case11056.p1
Illumina 1M
Paternal
Simplex
Segregated
SEZ6L2
krumm_15_ASD_discovery_cases-case11090.p1
Illumina 1MDuo
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,QPRT,KIF22
krumm_15_ASD_discovery_cases-case11090.p1
Illumina 1MDuo
De novo
Simplex
Segregated
PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case11229.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ARMC5,TGFB1I1
krumm_15_ASD_discovery_cases-case11433.p1
Illumina 1MDuo
De novo
Simplex
Segregated
SPN,QPRT
krumm_15_ASD_discovery_cases-case11433.p1
Illumina 1MDuo
De novo
Simplex
Segregated
PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case11490.p1
Illumina 1M
Paternal
Simplex
Segregated
PRRT2,PAGR1
krumm_15_ASD_discovery_cases-case11555.p1
Illumina 1M
Maternal
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case12100.p1
Illumina 1MDuo
De novo
Simplex
Segregated
C16orf92,TBX6,YPEL3,MAPK3,CORO1A,FAM57B,ALDOA,PPP4C,GDPD3
krumm_15_ASD_discovery_cases-case12100.p1
Illumina 1MDuo
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,SEZ6L2
krumm_15_ASD_discovery_cases-case12100.p1
Illumina 1MDuo
De novo
Simplex
Segregated
HIRIP3,TAOK2,INO80E,DOC2A
krumm_15_ASD_discovery_cases-case12220.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ARMC5,TGFB1I1
krumm_15_ASD_discovery_cases-case12308.p1
Illumina 1MDuo
De novo
Simplex
Segregated
C16orf92,TBX6,YPEL3,MAPK3,CORO1A,FAM57B,ALDOA,PPP4C,GDPD3
krumm_15_ASD_discovery_cases-case12308.p1
Illumina 1MDuo
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,SEZ6L2
krumm_15_ASD_discovery_cases-case12417.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case12435.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case12451.p1
Illumina 1MDuo
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case12647.p1
Illumina 1MDuo
De novo
Simplex
Segregated
SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case13416.p1
1M-Duov3
De novo
Simplex
Segregated
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
krumm_15_ASD_discovery_cases-case13487.p1
1M-Duov3
Maternal
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case13509.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case14023.p1
Omni2.5-4v1
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_15_ASD_discovery_cases-case14117.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
APOBR,CLN3,IL27
krumm_15_ASD_discovery_cases-case14395.p1
aCGH
Maternal
Simplex
Unknown
ARMC5,TGFB1I1
kumar_08_ASD_discovery_cases-HI0624
FISH, microsatellite analysis, aCGH
Maternal de novo
Multiplex
Not segregated
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kumar_08_ASD_discovery_cases-HI0646
FISH, microsatellite analysis, aCGH
Maternal de novo
Multiplex
Not segregated
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kumar_08_ASD_replication_cases-HI0128
FISH, microsatellite analysis, aCGH
Maternal
NA
NA
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kumar_08_ASD_replication_cases-HI2466
FISH, microsatellite analysis, aCGH
Paternal mosiac
Multiplex (sibling of kumar_08_autism_HI2467)
Segregated
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kumar_08_ASD_replication_cases-HI2467
FISH, microsatellite analysis, aCGH
Paternal mosiac
Multiplex (sibling of kumar_08_autism_HI2466)
Segregated
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kumar_08_ASD_replication_cases-HI2997
FISH, microsatellite analysis, aCGH
Paternal de novo
Multiplex
Not segregated
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kushima_18_ASD_discovery_cases-caseASD0195
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kushima_18_ASD_discovery_cases-caseASD0311
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kushima_18_ASD_discovery_cases-caseASD0416
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5
kushima_18_ASD_discovery_cases-caseASD0503
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
De novo
Not simplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kushima_18_ASD_discovery_cases-caseASD1005
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ0035
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,SNX29P2
kushima_18_SCZ_discovery_cases-caseSCZ0110
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ0818
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ0819
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ1010
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ2417
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A
kushima_22_ASD_discovery_cases-caseASD0195
qRT-PCR
Unknown
ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_ASD_discovery_cases-caseASD0311
qRT-PCR
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_ASD_discovery_cases-caseASD0416
qRT-PCR
Paternal
CA5AP1,ALDOA,SEZ6L2,SLX1B,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,NPIPB12,CDIPTOSP,SMG1P2,SMG1P5,BOLA2,SULT1A4,NPIPB13,SLX1A,ZG16,BOLA2B,NPIPB11,KIF22,MAZ,SMG1P6,SLX1A-SULT1A3,SLX1B-SULT1A4,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SULT1A3,SPN,TBX6,RN7SKP127,CORO1A-AS1,BOLA2-SMG1P6,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_ASD_discovery_cases-caseASD0503
qRT-PCR
De novo
ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_ASD_discovery_cases-caseASD1005
qRT-PCR
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,NPIPB12,CDIPTOSP,SMG1P2,NPIPB13,SLX1A,ZG16,BOLA2B,KIF22,MAZ,SLX1A-SULT1A3,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SULT1A3,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_BPD_discovery_cases-caseBD0772
qRT-PCR
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,NPIPB12,CDIPTOSP,SMG1P2,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_SCZ_discovery_cases-caseSCZ0110
qRT-PCR
De novo
ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_SCZ_discovery_cases-caseSCZ0818
qRT-PCR
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_SCZ_discovery_cases-caseSCZ0819
qRT-PCR
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_SCZ_discovery_cases-caseSCZ1010
qRT-PCR
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
kushima_22_SCZ_discovery_cases-caseSCZ2417
qRT-PCR
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,NPIPB12,CDIPTOSP,SMG1P2,NPIPB13,SLX1A,ZG16,BOLA2B,KIF22,MAZ,SLX1A-SULT1A3,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SULT1A3,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
laffin_12_CAS_discovery_cases-case2
Unknown
Multiplex
Unknown
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
larson_17_ASD_discovery_cases-case100
Unknown
Unknown
IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1
larson_17_ASD_discovery_cases-case101
Unknown
Unknown
IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1
larson_17_ASD_discovery_cases-case102
Unknown
Unknown
IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1
larson_17_ASD_discovery_cases-case99
Unknown
Unknown
IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1
lee_17_ASD/DD/ID/MCA_discovery_cases-case11
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
lee_17_ASD/DD/ID/MCA_discovery_cases-case12
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
lee_17_ASD/DD/ID/MCA_discovery_cases-case18
Unknown
IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1,HERC2P4,HERC2P5
lengyel_20_ASD/DD/ID_discovery_cases-case10
qPCR
De novo
IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1,HERC2P4,HERC2P5
lengyel_20_ASD/DD/ID_discovery_cases-case3
Unknown
MIR6862-2,NPIPB9,EIF3C
lengyel_20_ASD/DD/ID_discovery_cases-case4
FISH
Maternal
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
lengyel_20_ASD/DD/ID_discovery_cases-case5
FISH
Unknown (not maternal)
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
lengyel_20_ASD/DD/ID_discovery_cases-case6
Maternal
Multiplex
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
lengyel_20_ASD/DD/ID_discovery_cases-case7
Maternal
Multiplex
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
lengyel_20_ASD/DD/ID_discovery_cases-case8
Unknown
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
lengyel_20_ASD/DD/ID_discovery_cases-case9
PCR
Unknown (not maternal)
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
leppa_16_ASD_discovery_cases-AU002903
Maternal
Multiplex
Not segregated (CNV not present in affected siblings but is present in unaffected sibling AU002904)
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
leppa_16_ASD_discovery_cases-AU011004
De novo
Extended multiplex
Not segregated (CNV not present in other affected family members)
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
leppa_16_ASD_discovery_cases-AU0154302
De novo
Unknown
Possibly segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
leppa_16_ASD_discovery_cases-AU041905
De novo
Multiplex
Not segregated (CNV not present in affected sibling)
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,TBC1D10B,MYLPF,ZNF48,SEPT1,CA5AP1,SEZ6L2,DOC2A,SMG1P5
leppa_16_ASD_discovery_cases-AU0938301
qPCR
De novo
Multiplex
Not segregated (CNV not present in affected sibling)
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
levkova_21_DD/EP_discovery_cases-case1
Unknown
ALDOA,CA5AP1,SEZ6L2,PAGR1,GDPD3,TLCD3B,YPEL3,SLC7A5P1,PRRT2,TMEM219,C16orf92,C16orf54,KCTD13,INO80E,ASPHD1,NPIPB12,SMG1P2,CDIPTOSP,SLX1A,NPIPB13,BOLA2B,ZG16,MAZ,KIF22,SLX1A-SULT1A3,MIR3680-2,MAPK3,PPP4C,TBX6,SPN,SULT1A3,RN7SKP127,HIRIP3,DOC2A,TAOK2,MVP,CORO1A,CDIPT,QPRT
levy_11_ASD_discovery_cases-11090.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
levy_11_ASD_discovery_cases-11433.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
levy_11_ASD_discovery_cases-11498.p1
Paternal
Simplex
Segregated
NAMPTP3,VN1R68P,VN1R69P,UBE2MP1,SLC25A1P4,LINC02184,CCNYL3,CLUHP11,VPS35P1
levy_11_ASD_discovery_cases-11540.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
levy_11_ASD_discovery_cases-11555.p1
Paternal
Simplex
Not segregated
RNY1P10,GAPDHP35,XPO6
levy_11_ASD_discovery_cases-11555.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
levy_11_ASD_discovery_cases-11680.p1
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
levy_11_ASD_discovery_cases-12010.p1
Maternal
Simplex
Possibly segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,SEZ6L2,DOC2A
levy_11_ASD_discovery_cases-12100.p1
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
levy_11_ASD_discovery_cases-12435.p1
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
levy_11_ASD_discovery_cases-12451.p1
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
levy_11_ASD_discovery_cases-12647.p1
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
levy_11_ASD_discovery_cases-12736.p1
De novo
Simplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,BMS1P8
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13,HERC2P4
mahjani_21_ASD_discovery_cases-case161
Unknown
ALDOA,SEZ6L2,PAGR1,GDPD3,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,MAZ,KIF22,PPP4C,MAPK3,YPEL3-DT,TBX6,SPN,RN7SKP127,KCTD13-DT,CORO1A-AS1,HIRIP3,DOC2A,MVP,TAOK2,CDIPT,CORO1A,QPRT
mahjani_21_ASD_discovery_cases-case162
Unknown
CA5AP1,ALDOA,SEZ6L2,PAGR1,GDPD3,SLC7A5P1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,SMG1P2,CDIPTOSP,ZG16,MAZ,KIF22,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,TBX6,SPN,RN7SKP127,KCTD13-DT,CORO1A-AS1,HIRIP3,DOC2A,MVP,TAOK2,CDIPT,CORO1A,QPRT
mahjani_21_ASD_discovery_cases-case163
Unknown
CA5AP1,ALDOA,SEZ6L2,PAGR1,GDPD3,SLC7A5P1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,SMG1P2,CDIPTOSP,ZG16,MAZ,KIF22,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,TBX6,SPN,RN7SKP127,KCTD13-DT,CORO1A-AS1,HIRIP3,DOC2A,MVP,TAOK2,CDIPT,CORO1A,QPRT
mahjani_21_ASD_discovery_cases-case164
Unknown
CA5AP1,ALDOA,SEZ6L2,PAGR1,GDPD3,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,MAZ,KIF22,PPP4C,MAPK3,YPEL3-DT,TBX6,SPN,RN7SKP127,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CDIPT,QPRT
mahjani_21_ASD_discovery_cases-case44
Unknown
ATP2A1,CD19,LAT,RABEP2,SPNS1,NFATC2IP,ATP2A1-AS1,MIR4721,MIR4517,TUFM,ATXN2L,SH2B1
mahjani_22_OCD/CTD_discovery_cases-case4
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SLX1A,ZG16,BOLA2B,KIF22,MAZ,SLX1A-SULT1A3,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
maini_18_ASD/DD/ID_discovery_cases-case112
Maternal
Simplex
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
maini_18_ASD/DD/ID_discovery_cases-case113
Unknown
Simplex
Unknown
NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2
maini_18_ASD/DD/ID_discovery_cases-case190
De novo
Simplex
Possibly segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
maini_18_ASD/DD/ID_discovery_cases-case_unknown46
Paternal
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
maini_18_ASD/DD/ID_discovery_cases-case_unknown47
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
maini_18_ASD/DD/ID_discovery_cases-case_unknown48
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
maini_18_ASD/DD/ID_discovery_cases-case_unknown49
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
maini_18_ASD/DD/ID_discovery_cases-case_unknown50
De novo
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mak_17_ASD_discovery_cases-case2
De novo
APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,SGF29,EIF3C,ATXN2L,NFATC2IP
marshall_08_ASD_discovery_cases-MM0088-003
qPCR, qmPCR
De novo
Multiplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
marshall_08_ASD_discovery_cases-NA0133-000
qPCR, qmPCR
Maternal
Simplex
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
marshall_08_ASD_discovery_cases-SK0019-004
qPCR, qmPCR
De novo
Simplex
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
marshall_08_ASD_discovery_cases-SK0102-004
qPCR, qmPCR
De novo
Simplex
NA
mccarthy_09_ASD_discovery_cases-AU002903
aCGH (Nimble HD2)
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_ASD_discovery_cases-AU011004
aCGH (Nimble HD2)
Unknown
NA
NA
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_ASD_discovery_cases-AU0154302
aCGH (Nimble HD2)
Unknown
NA
NA
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_ASD_discovery_cases-AU029803
aCGH (Nimble HD2)
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_ASD_discovery_cases-AU032704
aCGH (Nimble HD2)
Unknown
NA
NA
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,SEZ6L2,DOC2A
mccarthy_09_ASD_discovery_cases-AU041905
aCGH (Nimble HD2)
Unknown
NA
NA
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
mccarthy_09_ASD_discovery_cases-AU0938301
aCGH (Nimble HD2)
Unknown
NA
NA
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_ASD_discovery_cases-CG20261
aCGH (Nimble HD2)
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_ASD_discovery_cases-JS-2100-3
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_BiP_discovery_cases-2201-0
Agilent 244A
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
mccarthy_09_BiP_discovery_cases-6023_9
Affy 500K
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_BiP_discovery_cases-8026_1
Affy 500K
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_BiP_discovery_cases-F440_4
Affy 500K
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-03C15536
Nimble HD2
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-03C15581
Nimble HD2
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-03C15896
Nimble HD2
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-03C18520
Nimble HD2
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-19326A3
Nimble HD2
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
mccarthy_09_SCZ_discovery_cases-19328A3
Nimble HD2
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-19328G5
Nimble HD2
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-2011
Nimble HD2
Paternal
Simplex
NA
C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
mccarthy_09_SCZ_discovery_cases-676
Nimble HD2
Paternal
Simplex
Not segregated
C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-AV-27-05
Nimble HD2
Unknown (not maternal)
Multiplex
Segregated
ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-MC235
Agilent 244A
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
mccarthy_09_SCZ_discovery_cases-NWP-110-02
Agilent 244A
Unknown
Multiplex
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_cases-OX-100-01
Agilent 244A
Maternal
Simplex
Segregated
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,SNX29P2
mccarthy_09_SCZ_replication_cases-1669
Nimble HD2
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_SCZ_replication_cases-37540
Nimble HD2
Unknown
NA
NA
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
mccarthy_09_SCZ_replication_cases-37612
Nimble HD2
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
mccarthy_09_SCZ_replication_cases-38492
Nimble HD2
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_SCZ_replication_cases-38499
Nimble HD2
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_SCZ_replication_cases-40245
Nimble HD2
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_SCZ_replication_cases-40350
Nimble HD2
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_SCZ_replication_cases-40832
Nimble HD2
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_SCZ_replication_cases-851
Nimble HD2
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
miclea_22_DD/ID_discovery_cases-case149
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,SLX1A,ZG16,BOLA2B,KIF22,MAZ,SLX1A-SULT1A3,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SULT1A3,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
miclea_22_DD/ID_discovery_cases-case61
Unknown
ATP2A1,CD19,LAT,RABEP2,SPNS1,NFATC2IP,CDC37P1,NPIPB8,ATP2A1-AS1,MIR4721,NPIPB9,MIR4517,MIR6862-2,TUFM,SULT1A1,EIF3C,ATXN2L,SH2B1
miclea_22_DD/ID_discovery_cases-case91
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CDIPT,QPRT
miyake_23_ASD_discovery_cases-case11159
qPCR
Paternal
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
monteiro_19_ASD_discovery_cases_case15
Maternal
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
monteiro_19_ASD_discovery_cases_case5
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
moreira_14_ASD/EP_discovery_cases-case4
Array SNP
Paternal
Unknown
Unknown
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
moreira_14_ASD/EP_discovery_cases-case5
Array SNP
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
moreira_14_ASD/EP_discovery_cases-case6
Array SNP
De novo
Unknown
Unknown
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
moreira_14_ASD/EP_discovery_cases-case7
Array SNP
Maternal
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
moreira_14_ASD/EP_discovery_cases-case8
Array SNP
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mosca_16_DCD_discovery_cases-case111203
qPCR
Unknown (paternal DNA not available)
Multi-generational
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mulle_13_SCZ_discovery_cases_1-caseAJ_8050_3
Solid phase hybridization
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
mulle_13_SCZ_discovery_cases_1-caseAJ_8188_1
Solid phase hybridization
Paternal
Possible multiplex
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5
mulle_13_SCZ_discovery_cases_1-caseAJ_8188_2
Solid phase hybridization
Paternal
Possible multiplex
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,CA5AP1,SEZ6L2,DOC2A
mulle_13_SCZ_discovery_cases_1-caseAJ_8951_2
Solid phase hybridization
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
munnich_19_ASD_discovery_cases-case11
FISH
Paternal
NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2
nava_13_ASD_discovery_cases-Fam1122Proband10785
Paternal
Simplex
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
nava_13_ASD_discovery_cases-Fam1188Proband11385
Unknown
Simplex
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
nava_13_ASD_discovery_cases-Fam845Proband10017
Paternal
Simplex
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
nava_13_ASD_discovery_cases-Fam885Proband9988
De novo
Simplex
Likely segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
newbury_12_ASD/CAS_discovery_cases-case1
De novo
Simplex
Likely segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
newbury_12_ASD/CAS_discovery_cases-case1
Unknown
Simplex
Unknown (common in DGV)
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251690
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
o'roak_12_ASD_discovery_cases-case13335.p1
aCGH, Sanger sequencing
De novo
Simplex (quad)
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
oikonomakis_16_ASD_discovery_cases-case40
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
oikonomakis_16_ASD_discovery_cases-case444
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
pebrel-richard_13_DD_discovery_cases-case1
FISH
De novo, maternal chromosome
Simplex
Likely segregated
APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
pfundt_16_NDD_discovery_cases-case1
De novo
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,SNX29P2
pfundt_16_NDD_discovery_cases-case123
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
pfundt_16_NDD_discovery_cases-case60
Array SNP (Affymetrix CytoScan HD)
MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SBK1,SNX29P2
pfundt_16_NDD_discovery_cases-case67
Array SNP (Affymetrix CytoScan HD)
De novo
MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SGF29,SBK1
pfundt_16_nonNDD_discovery_cases-case7
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,SNX29P2
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
Unknown
Multi-generational
Unknown
RARRES2P5,FGFR3P5,FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,FRG2IP,LINC01566,AGGF1P4
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
Both parents
Multi-generational
Unknown
TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,DUX4L45,PCMTD1P2,DUX4L46,DUX4L47,LINC00273,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1,HERC2P5
pinto_10_ASD_discovery_cases-case3211_003
qPCR-Maternal
maternal
Multiplex
Not segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
pinto_10_ASD_discovery_cases-case5068_3
qPCR-Denovo,Affy500K,Agilent1M
De novo
Multiplex
Not segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
pinto_10_ASD_discovery_cases-case5139_3
Agilent1M
De novo
NA
NA
ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,HERC2P5
pinto_10_ASD_discovery_cases-case5245_3
Agilent1M
Unknown (p_denovo_Ambiguous)
NA
NA
LOC440366,LOC729355,SLC6A10P,TP53TG3
pinto_10_ASD_discovery_cases-case5262_4
qPCR-Denovo,Affy500K,Agilent1M
De novo
Simplex
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
pinto_10_ASD_discovery_cases-case5359_4
qPCR-Denovo,Affy500K,Agilent1M
De novo
Simplex
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
pinto_10_ASD_discovery_cases-case5382_3
Agilent1M
maternal
NA
NA
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
pinto_10_ASD_discovery_cases-case5416_3
Agilent1M
maternal
NA
NA
ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,HERC2P5
pinto_10_ASD_discovery_cases-case5426_3
Agilent1M
paternal
NA
NA
0 genes
pinto_14_ASD_discovery_cases2-case20089_1391001
qPCR
De novo
Simplex
Likely segregated (unaffected younger dizygotic twins, not tested)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
pinto_14_ASD_discovery_cases2-case20127_4014001
qPCR
Possibly paternal
Paternal
Simplex
Possibly segregated (no siblings)
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
pinto_14_ASD_discovery_cases2-case2204_1
qPCR
De novo
Simplex
Likely segregated (3 unaffected paternal half-siblings, no DNA)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A
pinto_14_ASD_discovery_cases2-case3544_3
Validation not attempted (visual inspection)
Maternal
Multiplex
Unknown (affected sib not tested, no DNA)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
pinto_14_ASD_discovery_cases2-case4030_1
qPCR (Griswold et al. 2011, PMID: 21360829)
De novo
Multiplex
Not segregated (CNV not present in affected sibling)
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
pinto_14_ASD_discovery_cases2-case4436_1
Validation not attempted
Maternal
Simplex
Unknown (not tested)
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
posar_20_ASD/DD/ID_discovery_cases-case1
Paternal
Paternal
Multiplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
posar_20_ASD/DD/ID_discovery_cases-case2
Paternal
Paternal
Multiplex
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
posar_20_ASD/DD/ID_discovery_cases-case3
Paternal
Multiplex
Unknown
NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2
posar_20_ASD/DD/ID_discovery_cases-case4
Maternal
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SEZ6L2,DOC2A
posar_20_ASD/DD/ID_discovery_cases-case5
Paternal
Unknown
SPN,QPRT
poultney_13_ASD_discovery_cases-case00HI1465A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
poultney_13_ASD_discovery_cases-case00HI1739A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ARMC5,TGFB1I1
poultney_13_ASD_discovery_cases-case03HI2710A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SULT1A2,CDC37P1,SULT1A1,NPIPB8,EIF3C
poultney_13_ASD_discovery_cases-case05HI3865A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HSD3B7,STX4,SETD1A,STX1B
poultney_13_ASD_discovery_cases-case98HI0624B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
poultney_13_ASD_discovery_cases-case98HI0646A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
prasad_12_ASD_discovery_cases-case100564
qPCR
Maternal
Unknown
Unknown
DOC2A,ASPHD1,LOC440356,CORO1A,TBX6,LOC100271831,CDIPT,QPRT,YPEL3,PPP4C,MAPK3,SPN,MVP,FAM57B,ZG16,ALDOA,INO80E,SEZ6L2,TAOK2,KCTD13,MAZ,PRRT2,GDPD3,C16orf92,C16orf53,TMEM219,C16orf54,HIRIP3
prasad_12_ASD_discovery_cases-case100677L
Unknown
Unknown
Unknown
DOC2A,ASPHD1,LOC440356,TBX6,LOC100271831,CDIPT,QPRT,YPEL3,PPP4C,MAPK3,SPN,MVP,FAM57B,ZG16,ALDOA,INO80E,SEZ6L2,TAOK2,KCTD13,MAZ,PRRT2,GDPD3,C16orf92,C16orf53,TMEM219,C16orf54,HIRIP3
prasad_12_ASD_discovery_cases-case121851
Unknown
Unknown
Unknown
DOC2A,ASPHD1,LOC440356,LOC440354,CORO1A,TBX6,SLX1B-SULT1A4,LOC100271831,LOC388242,CDIPT,QPRT,YPEL3,SLX1A,SEZ6L2,PPP4C,SLX1B,MAPK3,SPN,LOC606724,BOLA2B,MVP,FAM57B,RUNDC2C,SULT1A4,ZG16,SULT1A3,ALDOA,INO80E,SLC7A5P1,TAOK2,KCTD13,LOC613038,SLX1A-SULT1A3,MAZ,PRRT2,GDPD3,C16orf92,C16orf53,TMEM219,BOLA2,C16orf54,HIRIP3
prasad_12_ASD_discovery_cases-case168999
Unknown
Unknown
Unknown
CSDAP1
prasad_12_ASD_discovery_cases-case32794
Unknown
Unknown
Unknown
ATXN2L,ATP2A1,NFATC2IP,SPNS1,RABEP2,SH2B1,LAT,TUFM,CD19
prasad_12_ASD_discovery_cases-case45562
Unknown
Unknown
Unknown
DOC2A,ASPHD1,LOC440356,CORO1A,TBX6,LOC100271831,CDIPT,QPRT,YPEL3,PPP4C,MAPK3,SPN,MVP,FAM57B,ZG16,ALDOA,INO80E,SEZ6L2,TAOK2,KCTD13,MAZ,PRRT2,GDPD3,C16orf92,C16orf53,TMEM219,C16orf54,HIRIP3
prasad_12_ASD_discovery_cases-case47932
Unknown
Unknown
Unknown
DOC2A,ASPHD1,LOC440356,CORO1A,TBX6,LOC100271831,CDIPT,QPRT,YPEL3,PPP4C,MAPK3,SPN,MVP,FAM57B,ZG16,ALDOA,INO80E,SEZ6L2,TAOK2,KCTD13,MAZ,PRRT2,GDPD3,C16orf92,C16orf53,TMEM219,C16orf54,HIRIP3
prasad_12_ASD_discovery_cases-case54650
Unknown
Unknown
Unknown
ATXN2L,ATP2A1,NFATC2IP,SPNS1,RABEP2,SH2B1,LAT,TUFM,CD19
prasad_12_ASD_discovery_cases-case62246-L
Unknown
Unknown
Unknown
TGFB1I1,ARMC5
quintela_17_DD/ID_discovery_cases-caseID_134
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A
quintela_17_DD/ID_discovery_cases-caseID_144
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
quintela_17_DD/ID_discovery_cases-caseID_206
Maternal
Unknown
SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
quintela_17_DD/ID_discovery_cases-caseID_225
De novo
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
quintela_17_DD/ID_discovery_cases-caseID_28
De novo
Possibly segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
quintela_17_DD/ID_discovery_cases-caseID_355
Unknown (not maternal)
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
quintela_17_DD/ID_discovery_cases-caseID_364
Maternal
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A
quintela_17_DD/ID_discovery_cases-caseID_412
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5
quintela_17_DD/ID_discovery_cases-caseID_433
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
quintela_17_DD/ID_discovery_cases-caseID_498
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
raca_12_CAS_discovery_cases-case1
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
raca_12_CAS_discovery_cases-case2
FISH
De novo
Unknown
Possibly segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
reinthaler_14_EP_discovery_cases-caseF1-II.1
qRT-PCR and aCGH
Maternal
Multiplex
Not segregated (duplication in 2/3 affected siblings)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
reinthaler_14_EP_discovery_cases-caseF2-III.1
qRT-PCR and aCGH
Maternal
Maternal
Multi-generational
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
reinthaler_14_EP_discovery_cases-caseF3-II.1
qRT-PCR and aCGH
Unknown (not maternal)
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
reinthaler_14_EP_discovery_cases-caseF4-II.1
qRT-PCR and aCGH
Maternal
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
reinthaler_14_EP_discovery_cases-caseF5-II.1
Paternal
Paternal
Multi-generational
Segregated
SPN,RN7SKP127,C16orf54,QPRT
reinthaler_14_EP_replication_cases-caseF6-I.1
qRT-PCR
Unknown
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH8
Unknown
Multi-generational
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,ALDOA,PPP4C,SEZ6L2,DOC2A
roberts_13_ASD/DD/ID_discovery_cases-ASDcase10
BACs aCGH or FISH
Paternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase16
BACs aCGH or FISH
Maternal
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP,RRN3P2
rosenfeld_10_ASD_discovery_cases-case16835
FISH
Unknown
Unknown
Unknown
SPN,QPRT,C16orf54,ZG16,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3
rosenfeld_10_ASD_discovery_cases-case23517
FISH
Unknown
Unknown
Unknown
SPN,QPRT,C16orf54,ZG16,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3
rosenfeld_10_ASD_discovery_cases-case23647
FISH
De novo
Unknown
Unknown
SPN,QPRT,C16orf54,ZG16,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3
rosenfeld_10_ASD_discovery_cases-case25383
FISH
Unknown
Unknown
Unknown
SPN,QPRT,C16orf54,ZG16,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3
rosenfeld_10_ASD_discovery_cases-case28737
FISH
De novo
Unknown
Unknown
SPN,QPRT,C16orf54,ZG16,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3
rosenfeld_10_ASD_discovery_cases-case28905
FISH
De novo
Unknown
Unknown
SPN,QPRT,C16orf54,ZG16,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3
rosenfeld_10_ASD_discovery_cases-case29807
FISH
Unknown
Unknown
Unknown
SPN,QPRT,C16orf54,ZG16,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3
sajan_13_ACC/CBLH/PMG_discovery_cases-case1060-0
Not tested by qPCR
Unknown
Unknown
Unknown
ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13,HERC2P4
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-127
Not tested by qPCR
Unknown
Unknown
Unknown
ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,HERC2P5
sanders_11_ASD_discovery_cases-11009.p1
Paternal
Simplex (quad-proband matched)
Segregated
SULT1A1
sanders_11_ASD_discovery_cases-11012.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11025.p1
Both parents
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11033.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11041.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
CDC37P1,MIR6862-2,NPIPB8,NPIPB9,EIF3C
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Not segregated
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,NPIPB12,SNX29P2
sanders_11_ASD_discovery_cases-11056.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CDIPTOSP,SEZ6L2
sanders_11_ASD_discovery_cases-11057.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11060.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
SULT1A1
sanders_11_ASD_discovery_cases-11073.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11080.p1
Maternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11085.p1
Maternal
Simplex (quad-proband matched)
Segregated
SULT1A1
sanders_11_ASD_discovery_cases-11087.p1
Paternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11090.p1
Unknown
Simplex (quad-proband matched)
Segregated
SULT1A1
sanders_11_ASD_discovery_cases-11090.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-11096.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11098.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11129.p1
Paternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11135.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11142.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11145.p1
Both parents
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11154.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11156.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR6862-2,NPIPB9,EIF3C
sanders_11_ASD_discovery_cases-11158.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11161.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11176.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11187.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11212.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A2,SULT1A1
sanders_11_ASD_discovery_cases-11214.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TGFB1I1
sanders_11_ASD_discovery_cases-11235.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11246.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF785
sanders_11_ASD_discovery_cases-11249.p1
Paternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11263.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11284.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11285.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11291.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11298.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11321.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11322.p1
Paternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11324.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11331.p1
Maternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11333.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A2,SULT1A1,SGF29
sanders_11_ASD_discovery_cases-11345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11356.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11359.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11368.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11371.p1
Both parents
Simplex (trio)
NA
SULT1A2,SULT1A1,SGF29
sanders_11_ASD_discovery_cases-11391.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A2,SULT1A1,SGF29
sanders_11_ASD_discovery_cases-11396.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11412.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11433.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-11435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11436.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11447.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11450.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11459.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11480.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11495.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11497.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11502.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11504.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11540.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-11546.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11555.p1
qPCR
De Novo
Simplex (quad-proband unmatched)
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
sanders_11_ASD_discovery_cases-11563.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11565.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
SULT1A1
sanders_11_ASD_discovery_cases-11567.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11598.p1
Paternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11609.p1
Maternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11629.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-11634.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11673.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11680.p1
qPCR
De Novo
Simplex (trio)
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-11696.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11698.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
SULT1A1
sanders_11_ASD_discovery_cases-11734.p1
Both parents
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11776.p1
Maternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11788.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11800.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
SULT1A1
sanders_11_ASD_discovery_cases-11809.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11818.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR6862-2,EIF3C
sanders_11_ASD_discovery_cases-11835.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11841.p1
Maternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11846.p1
Both parents
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11941.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11962.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11969.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11979.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SETD1A
sanders_11_ASD_discovery_cases-11979.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-11996.p1
Both parents
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-11999.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12003.p1
Paternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12010.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-12037.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12050.p1
Maternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12068.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12091.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR6862-2,EIF3C
sanders_11_ASD_discovery_cases-12100.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-12119.p1
Both parents
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12150.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12175.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12180.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12201.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12225.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12252.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12308.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-12313.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12329.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12350.p1
Maternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12358.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12366.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12368.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12370.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12396.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12403.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12417.p1
Maternal
Simplex (trio)
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
sanders_11_ASD_discovery_cases-12418.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12435.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-12438.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12441.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12448.p1
Unknown
Simplex (trio)
NA
PYDC1,TRIM72
sanders_11_ASD_discovery_cases-12451.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-12465.p1
Unknown
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12521.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12534.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12539.p1
Maternal
Simplex (trio)
NA
SETD1A
sanders_11_ASD_discovery_cases-12568.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12579.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SETD1A
sanders_11_ASD_discovery_cases-12602.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12638.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12647.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-12670.p1
Paternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12674.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AHSP,VN1R64P,LINC02190,VN1R65P
sanders_11_ASD_discovery_cases-12701.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12723.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12736.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_cases-12757.p1
Both parents
Simplex (trio)
NA
SULT1A2,SULT1A1,SGF29
sanders_11_ASD_discovery_cases-12786.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12809.p1
Unknown
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12832.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12838.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12853.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12878.p1
Maternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12894.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-12899.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
SULT1A1
sanders_11_ASD_discovery_cases-12961.p1
Paternal
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-12962.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-13006.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-13019.p1
Both parents
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-13038.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-13041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-13063.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-13067.p1
Unknown
Simplex (trio)
NA
SULT1A1
sanders_11_ASD_discovery_cases-13072.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-13095.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
SULT1A1
sanders_11_ASD_discovery_cases-13171.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF785
sanders_11_ASD_discovery_cases-13171.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-13183.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-13222.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SULT1A1
sanders_11_ASD_discovery_cases-13226.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SULT1A1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT177
De novo
CA5AP1,ALDOA,SEZ6L2,SLX1B,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,NPIPB12,CDIPTOSP,SNX29P2,SMG1P2,BOLA2,SULT1A4,ZG16,NPIPB11,KIF22,MAZ,SMG1P6,SLX1B-SULT1A4,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,BOLA2-SMG1P6,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
sandoval_talamantes_23_ASD_discovery_cases-caseAUT59
Unknown
ATP2A1,CD19,CA5AP1,ALDOA,SEPTIN1,COX6A2,CTF1,SEZ6L2,LAT,MYLPF,AHSP,ZNF771,PYCARD,FBXL19,SLX1B,PRR14,ZNF668,ARMC5,GDPD3,RUSF1,PAGR1,DCTPP1,RABEP2,VKORC1,FBRS,ZNF747,ZNF768,YPEL3,KAT8,HSD3B7,SPNS1,SLC7A5P1,TLCD3B,STX1B,NFATC2IP,ZNF764,ORAI3,PRRT2,TMEM219,ZNF689,C16orf92,PRSS36,ZNF688,ZNF785,ZNF48,ITGAL,FUS,ITGAM,ITGAD,ITGAX,KCTD13,ASPHD1,C16orf54,ZNF843,FBXL19-AS1,PYDC1,INO80E,PRSS53,NPIPB12,YBX3P1,CDIPTOSP,SNX29P2,SMG1P2,TRIM72,SMG1P5,BOLA2,SULT1A4,NPIPB13,SLX1A,SNORA30,ZG16,BOLA2B,RRN3P2,NPIPB11,NPIPB10P,VN1R64P,VN1R66P,VN1R65P,KIF22,MAZ,CLUHP3,RNU7-61P,RBM22P12,CTF2P,ATP2A1-AS1,MIR762,SMG1P6,SLX1A-SULT1A3,MIR4518,SLX1B-SULT1A4,MIR4721,MIR4519,MIR4517,MIR3680-2,TMEM265,PYCARD-AS1,PPP4C,PRSS8,PHKG2,MAPK3,CD2BP2-DT,MIR762HG,YPEL3-DT,FRG2KP,LINC02190,NDUFA3P6,STX4,SULT1A3,SPN,TBX6,TUFM,SLC5A2,TGFB1I1,RNU6-416P,RN7SKP127,RNU6-1043P,CORO1A-AS1,BOLA2-SMG1P6,KCTD13-DT,SNORA80C,HIRIP3,DOC2A,BCL7C,ZNF646,MVP,RNF40,TAOK2,SETD1A,BCKDK,CORO1A,SRCAP,ATXN2L,CD2BP2,CDIPT,TBC1D10B,ZNF629,SH2B1,QPRT,SEPHS2
sansovic_17_DD/ID/ASD_discovery_cases-case78
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
sansovic_17_DD/ID/ASD_discovery_cases-case80
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
schaefer_10_ASD_discovery_cases-case14
FISH
Unknown
Unknown
Unknown
NA
schuch_19_ASD_discovery_cases-case9
Paternal
Unknown
Not segregated
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,ALDOA,PPP4C,SEZ6L2,DOC2A
sebat_07_ASD_discovery_cases-CG2061
390K ROMA or Agilent 244K aCGH, FISH, microsatellite
De novo
Simplex
NA
SPN,QPRT,C16orf54,ZG16,MAZ,PRRT2,C16orf53,MVP,CDIPT,LOC440356,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3,LOC100271831
shen_10b_ASD_discovery_cases-caseII:5
De novo
Simplex
Likely segregated
SPN,QPRT,C16orf54,ZG16,KIF22,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3,CORO1A
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Not segregated for ASD, segregated for language delay
SPN,QPRT,C16orf54,ZG16,KIF22,MAZ,PRRT2,C16orf53,MVP,CDIPT,SEZ6L2,ASPHD1,KCTD13,TMEM219,TAOK2,HIRIP3,INO80E,DOC2A,C16orf92,FAM57B,ALDOA,PPP4C,TBX6,YPEL3,GDPD3,MAPK3,CORO1A
shen_10_ASD_discovery_cases-ASD-09-065
De novo
NA
NA
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,ATXN2L,NFATC2IP
shen_10_ASD_discovery_cases-ASD-09-066
De novo
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
shen_10_ASD_discovery_cases-ASD-09-067
De novo
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
shen_10_ASD_discovery_cases-ASD-09-068
De novo
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
shen_10_ASD_discovery_cases-ASD-09-069
De novo
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
shen_10_ASD_discovery_cases-ASD-09-070
Maternal
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
shin_15_ASD/DD/ID_discovery_cases-case14
Unknown
Unknown
TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1,HERC2P5
shin_15_ASD/DD/ID_discovery_cases-case27
Unknown
Unknown
IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,DUX4L45,PCMTD1P2,DUX4L46,DUX4L47,LINC00273,RNA5-8SP2,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1,HERC2P4,HERC2P5
soueid_16_ASD_discovery_cases-caseBAK43
Paternal
N/A
RARRES2P5,FGFR3P5,FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,FRG2IP,LINC01566,AGGF1P4
soueid_16_ASD_discovery_cases-caseLAS17
De novo
Simplex
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
soueid_16_DD/ID_discovery_cases-case5
Unknown
Unknown
Unknown
RARRES2P5,FGFR3P5,FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,FRG2IP,LINC01566,AGGF1P4
stobbe_13_ASD_discovery_cases-case36
Possibly paternal
Unknown
Multi-generational
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
streata_22_ASD/DD/ID_discovery_cases-case370
CMA, karyotyping, and/or MLPA
De novo
ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P5,NPIPB13,SLX1A,ZG16,BOLA2B,KIF22,MAZ,SLX1A-SULT1A3,PPP4C,MAPK3,YPEL3-DT,SULT1A3,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
szelest_21_ASD/DD/ID/EP_discovery_cases-case1
MLPA
De novo
Simplex
Segregated
APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SNX29P2
szelest_21_ASD/DD/ID/EP_discovery_cases-case2
CMA
De novo
Simplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
szelest_21_ASD/DD/ID/EP_discovery_cases-case3
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
tabet_12_ASD_discovery_cases-patient1
qPCR
Paternal
Multiplex
Unknown
APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,SNX29P2
tammimies_15_ASD_discovery_cases-case3-0133-000
Maternal
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
tammimies_15_ASD_discovery_cases-case3-0269-000
Maternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
tiwari_12_EP_discovery_cases-patient2
Maternal
Unknown
Unknown
HERC2P4, LOC729264, LOC390705
tropeano_16_ASD_discovery_cases-MAAS25
MLPA or aCGH
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
tuncay_22_ASD_discovery_cases-caseMC-16-3
Unknown
Simplex
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,SMG1P2,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
tuncay_22_ASD_discovery_cases-caseMC-16-3
Unknown
Simplex
Unknown
ATP2A1,CD19,LAT,RABEP2,SPNS1,NFATC2IP,SNX29P2,RRN3P2,NPIPB11,NPIPB10P,ATP2A1-AS1,SMG1P6,MIR4721,NPIPB9,MIR4517,MIR6862-2,TUFM,EIF3C,ATXN2L,SH2B1
tuncay_22_ASD_discovery_cases-caseMC-16-3
Unknown
Simplex
Unknown
SEPTIN1,CTF1,MYLPF,ZNF771,FBXL19,PRR14,ZNF668,DCTPP1,FBRS,ZNF747,ZNF768,HSD3B7,STX1B,ZNF764,ORAI3,ZNF689,ZNF688,ZNF785,ZNF48,ITGAL,FBXL19-AS1,PRSS53,SMG1P5,SNORA30,RNU7-61P,CTF2P,MIR762,MIR4518,MIR4519,TMEM265,PHKG2,CD2BP2-DT,MIR762HG,STX4,RNU6-416P,RNU6-1043P,SNORA80C,BCL7C,ZNF646,RNF40,SETD1A,SRCAP,CD2BP2,TBC1D10B,ZNF629,SEPHS2
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,HERC2P5
van_den_bossche_12_BPD_discovery_cases-Bas1525
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
van_den_bossche_12_BPD_discovery_cases-Zas8689
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
van_den_bossche_12_SCZ_discovery_cases-Sc3007
Unknown
Unknown
Unknown
ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,TBC1D10B,MYLPF,ZNF48,SEPT1,SEZ6L2,DOC2A,SMG1P5
van_den_bossche_12_SCZ_discovery_cases-Zas9029
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
verberne_22_ASD/DD/ID_discovery_cases-case375
Unknown
ATP2A1,CD19,LAT,RABEP2,SPNS1,NFATC2IP,ATP2A1-AS1,MIR4721,MIR4517,TUFM,ATXN2L,SH2B1
wallace_18_ASD_discovery_cases-case1
Array SNP, MIP
Possibly maternal
De novo
Multi-generational
Likely segregated (initial de novo duplication in the proband's mother followed by the de novo expansion of this duplication to the triplication state in the proband)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU002903
MLPA
Inherited
Multiplex
Not segregated (unaffected sib with duplication)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU002905
MLPA
Inherited
Multiplex
Not segregated (unaffected sib with duplication)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU011004
MLPA
De novo
Mulitplex
Not segregated (affected sib w/o duplication)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU0154302
MLPA
De novo
Multiplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU0154303
MLPA
De novo
Multiplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU029803
MLPA
De novo
Mulitplex
Not segregated (affected sib w/o duplication)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU032704
MLPA
Inherited
Multiplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU032705
MLPA
Inherited
Multiplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU032706
MLPA
Inherited
Multiplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU032707
MLPA
Inherited
Multiplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU041905
MLPA
De novo
Mulitplex
Not segregated (affected sib w/o duplication)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_discovery_cases-AU0938301
MLPA
De novo
Mulitplex
Not segregated (affected sib w/o duplication)
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_replication_cases-deCODEAut1
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_replication_cases-deCODEAut2
Paternal
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_ASD_replication_cases-deCODEAut3
De novo
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient1
MLPA, FISH
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient2
MLPA, FISH
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient3
MLPA, FISH
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient4
MLPA, FISH
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient5
MLPA, FISH
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient6
MLPA, FISH
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient7
MLPA, FISH
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient8
MLPA, FISH
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient9
MLPA, FISH
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
wenger_16_ASD_discovery_cases-case30
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327119
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,SEZ6L2,DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327121
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,SEZ6L2,DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327122
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327133
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327135
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
woodbury_smith_23_ASD/DD/ID_discovery_cases-case1-0616-003
RT-PCR (Taqman)
Maternal
Multiplex
Segregated
ATP2A1,CD19,LAT,RABEP2,SPNS1,NFATC2IP,NPIPB10P,ATP2A1-AS1,MIR4721,MIR4517,TUFM,ATXN2L,SH2B1
woodbury_smith_23_ASD/DD/ID_discovery_cases-case1-0616-004
RT-PCR (Taqman)
Maternal
Multiplex
Segregated
ATP2A1,CD19,LAT,RABEP2,SPNS1,NFATC2IP,NPIPB10P,ATP2A1-AS1,MIR4721,MIR4517,TUFM,ATXN2L,SH2B1
woodbury_smith_23_ASD/DD/ID_discovery_cases-case1-0616-005
RT-PCR (Taqman)
Maternal
Multiplex
Segregated
ATP2A1,CD19,LAT,RABEP2,SPNS1,NFATC2IP,NPIPB10P,ATP2A1-AS1,MIR4721,MIR4517,TUFM,ATXN2L,SH2B1
xu_16_ASD/DD/ID_discovery_cases-case10
De novo
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yap_21_ASD_discovery_cases-case3305177
Maternal
ATP2A1,CD19,LAT,RABEP2,SPNS1,NFATC2IP,ATP2A1-AS1,MIR4721,MIR4517,TUFM,ATXN2L,SH2B1
yingjun_17_ASD_discovery_cases-case4876
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
yingjun_17_ASD_discovery_cases-case7687
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
yin_16_ASD_discovery_cases-case497
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
yin_16_ASD_discovery_cases-case498
Unknown
Unknown
Unknown
LINC02190,VN1R65P,FRG2KP,YBX3P1,ZNF720P1
yin_16_ASD_discovery_cases-case499
Unknown
Unknown
Unknown
DUX4L45,PCMTD1P2,DUX4L46,DUX4L47,LINC00273,RNA5-8SP2
yin_16_ASD_discovery_cases-case500
Unknown
Unknown
Unknown
DUX4L45,PCMTD1P2,DUX4L46,DUX4L47,LINC00273,RNA5-8SP2
yin_16_ASD_discovery_cases-case501
Unknown
Unknown
Unknown
NAMPTP3,VN1R68P,VN1R69P,UBE2MP1,SLC25A1P4,TP53TG3GP,RARRES2P5,FGFR3P5,FRG2JP,RARRES2P6,AGGF1P8,LINC02184,CCNYL3,CLUHP11,VPS35P1
yuen_17_ASD_discovery_cases-case1-0019-004
Illumina1M
De novo
Simplex
Segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
yuen_17_ASD_discovery_cases-case2-0088-003
Illumina1M
De novo
Multiplex
Not segregated
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
yuen_17_ASD_discovery_cases-caseAU002903
Not available
Maternal
Multiplex
Not segregated
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5
yuen_17_ASD_discovery_cases-caseAU3160302
Not available
Unknown
Simplex
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
yu_11_ASD_discovery_cases-patient10
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_ASD_discovery_cases-patient11
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_ASD_discovery_cases-patient16
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_ASD_discovery_cases-patient18
Maternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_ASD_discovery_cases-patient2
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_ASD_discovery_cases-patient20
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_ASD_discovery_cases-patient22
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_ASD_discovery_cases-patient5
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_ASD_discovery_cases-patient7
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_ASD_discovery_cases-patient9
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient1
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient12
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient13
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient14
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient15
Paternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient17
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient19
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient21
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient23
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient24
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient25
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient26
Unknown
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient27
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient28
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient3
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient4
Maternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient6
De novo
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
yu_11_nonASD_discovery_cases-patient8
Paternal
Unknown
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0616-003
RT-qPCR or WGS
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0782-004
RT-qPCR or WGS
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0384-001
RT-qPCR or WGS
De novo
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case176004
RT-qPCR or WGS
Unknown
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,EIF3C,ATXN2L,NFATC2IP
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case218119
RT-qPCR or WGS
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case219365
RT-qPCR or WGS
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case222648
RT-qPCR or WGS
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP,RRN3P2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case226265
RT-qPCR or WGS
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0049-003
RT-qPCR or WGS
Unknown
APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,SNX29P2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0229-003
RT-qPCR or WGS
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0293-003
RT-qPCR or WGS
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,CA5AP1,SEZ6L2,DOC2A
null
bacchelli_20_ASD_discovery_controls-control10490
Unknown
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,GDPD3,MAPK3,CORO1A,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,TLCD3B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
engchuan_15_ASD_discovery_controls-control110036021749_
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
engchuan_15_ASD_discovery_controls-controlB234785_1007841252
Unknown
IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1,HERC2P4,HERC2P5
engchuan_15_ASD_discovery_controls-controlB338435_1007854144
Unknown
IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1,HERC2P4,HERC2P5
engchuan_15_ASD_discovery_controls-controlB566023_1007854692
Unknown
ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,HERC2P4,HERC2P5
engchuan_15_ASD_discovery_controls-controlB609347_1007853750
Unknown
TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,HERC2P5
engchuan_15_ASD_discovery_controls-controlB675955_1007841005
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5
engchuan_15_ASD_discovery_controls-controlB879700_1007854073
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,CA5AP1,SEZ6L2,DOC2A
engchuan_15_ASD_discovery_controls-controlHABC_900033_900033
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900049_900049
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900281_900281
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_900316_900316
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_900326_900326
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_900360_900360
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_900527_900527
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_900775_900775
Unknown
DUX4L45
engchuan_15_ASD_discovery_controls-controlHABC_900883_900883
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_902586_902586
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902605_902605
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902606_902606
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902617_902617
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902620_902620
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902621_902621
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902622_902622
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902631_902631
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902635_902635
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902655_902655
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902676_902676
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902678_902678
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902681_902681
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902684_902684
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902689_902689
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902894_902894
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BMS1P8,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_03
Unknown
girirajan_11_ASD_discovery_controls-NIMH_103
Unknown
girirajan_11_ASD_discovery_controls-NIMH_108
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_108
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_108
Unknown
TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13
girirajan_11_ASD_discovery_controls-NIMH_114
Unknown
girirajan_11_ASD_discovery_controls-NIMH_115
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,DUX4L45,PCMTD1P2,DUX4L46,DUX4L47,LINC00273,RNA5-8SP2,BMS1P8,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_123
Unknown
ABCD1P3
girirajan_11_ASD_discovery_controls-NIMH_126
Unknown
girirajan_11_ASD_discovery_controls-NIMH_128
Unknown
girirajan_11_ASD_discovery_controls-NIMH_141
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,BMS1P8,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_150
Unknown
girirajan_11_ASD_discovery_controls-NIMH_153
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_153
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_157
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_164
Unknown
girirajan_11_ASD_discovery_controls-NIMH_173
Unknown
IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_174
Unknown
girirajan_11_ASD_discovery_controls-NIMH_180
Unknown
girirajan_11_ASD_discovery_controls-NIMH_184
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_185
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_190
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,BMS1P8,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_190
Unknown
girirajan_11_ASD_discovery_controls-NIMH_195
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_195
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_196
Unknown
TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13
girirajan_11_ASD_discovery_controls-NIMH_196
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,BMS1P8,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_197
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_202
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_207
Unknown
girirajan_11_ASD_discovery_controls-NIMH_215
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_216
Unknown
girirajan_11_ASD_discovery_controls-NIMH_219
Unknown
girirajan_11_ASD_discovery_controls-NIMH_228
Unknown
TP53TG3D
girirajan_11_ASD_discovery_controls-NIMH_228
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_241
Unknown
girirajan_11_ASD_discovery_controls-NIMH_252
Unknown
girirajan_11_ASD_discovery_controls-NIMH_255
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_259
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_267
Unknown
girirajan_11_ASD_discovery_controls-NIMH_295
Unknown
girirajan_11_ASD_discovery_controls-NIMH_306
Unknown
girirajan_11_ASD_discovery_controls-NIMH_313
Unknown
girirajan_11_ASD_discovery_controls-NIMH_327
Unknown
girirajan_11_ASD_discovery_controls-NIMH_37
Unknown
BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_37
Unknown
TP53TG3D,ACTR3BP3,ABCD1P3,PABPC1P13
girirajan_11_ASD_discovery_controls-NIMH_37
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13
girirajan_11_ASD_discovery_controls-NIMH_42
Unknown
girirajan_11_ASD_discovery_controls-NIMH_59
Unknown
IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_63
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_66
Unknown
girirajan_11_ASD_discovery_controls-NIMH_71
Unknown
girirajan_11_ASD_discovery_controls-NIMH_75
Unknown
girirajan_11_ASD_discovery_controls-NIMH_79
Unknown
ABCD1P3
girirajan_11_ASD_discovery_controls-NIMH_87
Unknown
girirajan_12_ASD/DD/ID_discovery_controls-control100
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_controls-control101
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_controls-control102
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_controls-control95
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_controls-control96
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_controls-control97
NA
Unknown
Unknown
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP
girirajan_12_ASD/DD/ID_discovery_controls-control98
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_12_ASD/DD/ID_discovery_controls-control99
NA
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
girirajan_13a_ASD_discovery_controls3-control19
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_controls3-control20
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_controls3-control21
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_controls3-control22
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13a_ASD_discovery_controls3-control23
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,CA5AP1,SEZ6L2,DOC2A,SMG1P5
girirajan_13b_ASD_discovery_controls-10908109454
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-12508109518
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-1306105504
Unknown
girirajan_13b_ASD_discovery_controls-15110112933
Unknown
BMS1P8
girirajan_13b_ASD_discovery_controls-24809111471
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-25205103118
Unknown
girirajan_13b_ASD_discovery_controls-25205103118
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-26405103148
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-30109111610
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-306105441
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-30706106486
Unknown
girirajan_13b_ASD_discovery_controls-33006106538
Unknown
FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,RARRES2P8,AGGF1P7,C1QL1P1,KIF18BP1,FRG2IP,C2orf69P1,LINC01566,AGGF1P4
girirajan_13b_ASD_discovery_controls-34107108649
Unknown
girirajan_13b_ASD_discovery_controls-34108110389
Unknown
girirajan_13b_ASD_discovery_controls-3506105586
Unknown
ABCD1P3
girirajan_13b_ASD_discovery_controls-36206106646
Unknown
ABCD1P3
girirajan_13b_ASD_discovery_controls-36206106646
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,DUX4L45,PCMTD1P2,DUX4L46,DUX4L47,LINC00273,RNA5-8SP2,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-37205104108
Unknown
girirajan_13b_ASD_discovery_controls-40804101794
Unknown
girirajan_13b_ASD_discovery_controls-45304101644
Unknown
CD2BP2,SEPHS2,RNU7-61P,MIR4518,ZNF768,ZNF747,ZNF785,FBRS,RNU6-416P,RNU6-1043P,SNORA30,TMEM265,CCDC189,TBC1D10B,MYLPF,ZNF48,SEPT1,DCTPP1,ITGAL,ZNF764,ZNF688,ZNF689,PRR14,SRCAP,PHKG2,RNF40,ZNF629,ZNF771
girirajan_13b_ASD_discovery_controls-47006107031
Unknown
BMS1P8
girirajan_13b_ASD_discovery_controls-4906105609
Unknown
girirajan_13b_ASD_discovery_controls-51406107186
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-52809112566
Unknown
ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-53306107454
Unknown
IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,DUX4L45,PCMTD1P2,DUX4L46,DUX4L47,LINC00273,RNA5-8SP2,ARHGAP23P1
girirajan_13b_ASD_discovery_controls-54606107478
Unknown
ACTR3BP3
girirajan_13b_ASD_discovery_controls-56606107560
Unknown
girirajan_13b_ASD_discovery_controls-69405105404
Unknown
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,EIF3C,ATXN2L,NFATC2IP,RRN3P2,SNX29P2
girirajan_13b_ASD_discovery_controls-8206105715
Unknown
BMS1P8
girirajan_13b_ASD_discovery_controls-8808109366
Unknown
glessner_09_ASD_discovery_controls-disccontrol2
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_discovery_controls-disccontrol3
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_discovery_controls-disccontrol4
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_discovery_controls-disccontrol5
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
glessner_09_ASD_discovery_controls-disccontrol6
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
golzio_12_ASD_discovery_controls-control1
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_controls-control2
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_controls-control3
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_controls-control4
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_controls-control5
Unknown
Unknown
Unknown
MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
kaminsky_11_DD/ID/ASD_discovery_controls-control0001
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0002
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0003
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0004
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0005
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0006
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0007
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0008
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0009
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
krumm_13_ASD_discovery_controls-control11229.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
ARMC5,TGFB1I1
krumm_13_ASD_discovery_controls-control12152.s1
Maternal
Simplex
ZNF629,BCL7C
krumm_15_ASD_discovery_controls-control11229.s1
Illumina 1M
Maternal
ARMC5,TGFB1I1
krumm_15_ASD_discovery_controls-control12152.s1
Illumina 1MDuo
Maternal
ZNF629,BCL7C
krumm_15_ASD_discovery_controls-control12220.s1
Illumina 1MDuo
Maternal
ARMC5,TGFB1I1
krumm_15_ASD_discovery_controls-control13171.s1
Illumina 1MDuo
Maternal
ARMC5,TGFB1I1
krumm_15_ASD_discovery_controls-control13509.s1
1M-Duov3
Paternal
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
kumar_08_ASD_replication_controls-04C34861
qPCR
Unknown
NA
NA
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kumar_08_ASD_replication_controls-04C36902
qPCR
Unknown
NA
NA
RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
kushima_18_ASD/SCZ_discovery_controls-controlCON0451
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
kushima_18_ASD/SCZ_discovery_controls-controlCON1741
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0451
qRT-PCR
Unknown
CA5AP1,ALDOA,SEZ6L2,GDPD3,PAGR1,YPEL3,SLC7A5P1,TLCD3B,PRRT2,TMEM219,C16orf92,KCTD13,ASPHD1,C16orf54,INO80E,CDIPTOSP,ZG16,KIF22,MAZ,MIR3680-2,PPP4C,MAPK3,YPEL3-DT,SPN,TBX6,RN7SKP127,CORO1A-AS1,KCTD13-DT,HIRIP3,DOC2A,MVP,TAOK2,CORO1A,CDIPT,QPRT
leppa_16_ASD_discovery_controls-AU002904
Maternal
Multiplex
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
levy_11_ASD_discovery_controls-11555.s1
Paternal
Simplex
NA
RNY1P10,GAPDHP35,XPO6
mccarthy_09_SCZ_discovery_controls-control11158E8
Affy 500K
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,SEZ6L2,DOC2A
mccarthy_09_SCZ_discovery_controls-control129998A
Affy 500K
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
mccarthy_09_SCZ_discovery_controls-control15051D6
Affy 500K
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
mccarthy_09_SCZ_discovery_controls-control15387D8
Affy 500K
Unknown
NA
NA
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SEZ6L2,DOC2A,SMG1P5
mccarthy_09_SCZ_replication_controls-control36604
Nimble HD2
Unknown
NA
NA
BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,NPIPB12,CA5AP1,SEZ6L2,DOC2A
mccarthy_09_SCZ_replication_controls-control39636
Nimble HD2
Unknown
NA
NA
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,CA5AP1,SEZ6L2,DOC2A
poultney_13_ASD_discovery_controls-control04C29553A
Sanger sequencing
Unknown
SULT1A2
poultney_13_ASD_discovery_controls-control04C30251A
Unknown
TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,ATXN2L,NFATC2IP,RRN3P2,SNX29P2
poultney_13_ASD_discovery_controls-control04C32922A
Unknown
SEZ6L2
poultney_13_ASD_discovery_controls-control04C38506A
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
poultney_13_ASD_discovery_controls-control05C45724
Unknown
CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,EIF3C,ATXN2L,NFATC2IP
reinthaler_14_EP_discovery_controls-control11
Unknown
MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,NPIPB12,CA5AP1,SEZ6L2,DOC2A
sanders_11_ASD_discovery_controls-11000.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11013.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11033.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11041.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11045.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11049.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11051.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11052.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11057.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11090.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11108.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11110.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11120.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11121.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11135.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11176.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11190.s1
Unknown
Simplex (quad)
NA
MIR6862-1,CDC37P2,EIF3CL
sanders_11_ASD_discovery_controls-11193.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11194.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11208.s1
Paternal
Simplex (quad)
NA
MIR6862-1,CDC37P2,EIF3CL
sanders_11_ASD_discovery_controls-11208.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11218.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11233.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11235.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11235.s1
Paternal
Simplex (quad)
NA
QPRT
sanders_11_ASD_discovery_controls-11242.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11247.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11257.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11262.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11263.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11298.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11304.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11310.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11316.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11324.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11333.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11346.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11348.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11349.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11350.s1
Unknown
Simplex (quad)
NA
CDC37P1,MIR6862-2,SULT1A1,NPIPB8,NPIPB9,EIF3C
sanders_11_ASD_discovery_controls-11355.s1
Paternal
Simplex (quad)
NA
SETD1A
sanders_11_ASD_discovery_controls-11356.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11359.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11365.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11391.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11425.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11432.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11436.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11440.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11459.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11462.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11471.s1
Maternal
Simplex (quad)
NA
SULT1A2,SULT1A1,SGF29
sanders_11_ASD_discovery_controls-11473.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11489.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11495.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11524.s1
Unknown
Simplex (quad)
NA
MIR6862-1,CDC37P2,EIF3CL
sanders_11_ASD_discovery_controls-11546.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11549.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11563.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11568.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11572.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11578.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11581.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11584.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11601.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11634.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11667.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11691.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11696.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11707.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11718.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11721.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11722.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11788.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11808.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11835.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11905.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11919.s1
Paternal
Simplex (quad)
NA
SETD1A
sanders_11_ASD_discovery_controls-11935.s1
Unknown
Simplex (quad)
NA
SMG1P2,NPIPB12
sanders_11_ASD_discovery_controls-11939.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11940.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11972.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-11979.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12036.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12091.s1
Unknown
Simplex (quad)
NA
MIR6862-2,EIF3C
sanders_11_ASD_discovery_controls-12130.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12152.s1
Maternal
Simplex (quad)
NA
ZNF629,BCL7C
sanders_11_ASD_discovery_controls-12175.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12184.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12227.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12281.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12313.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12323.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12361.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12366.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12407.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12434.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12457.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12478.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12534.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12541.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12568.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12578.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12579.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12581.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12630.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12631.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12638.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12650.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12674.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12676.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12701.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12723.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12735.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12759.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12785.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12786.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12832.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12836.s1
Maternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12867.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12930.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-12984.s1
Unknown
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-13012.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-13015.s1
Both parents
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-13041.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-13070.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-13072.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-13195.s1
Paternal
Simplex (quad)
NA
SULT1A1
sanders_11_ASD_discovery_controls-13226.s1
Both parents
Simplex (quad)
NA
SULT1A1
soueid_16_ASD_discovery_controls-control5
RARRES2P5,FGFR3P5,FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,FRG2IP,LINC01566,AGGF1P4
van_den_bossche_12_BPD_discovery_controls-Berk1785
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SEPHS2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,TBC1D10B,MYLPF,ZNF48,SEPT1,DCTPP1,ITGAL,SEZ6L2,DOC2A,SMG1P5,ZNF771
van_den_bossche_12_BPD_discovery_controls-Berk5272
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
van_den_bossche_12_ID_discovery_controls-Berk1785
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SEPHS2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,TBC1D10B,MYLPF,ZNF48,SEPT1,DCTPP1,ITGAL,SEZ6L2,DOC2A,SMG1P5,ZNF771
van_den_bossche_12_ID_discovery_controls-Berk5272
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
van_den_bossche_12_MDD_discovery_controls-Berk1785
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SEPHS2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,TBC1D10B,MYLPF,ZNF48,SEPT1,DCTPP1,ITGAL,SEZ6L2,DOC2A,SMG1P5,ZNF771
van_den_bossche_12_MDD_discovery_controls-Berk5272
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
van_den_bossche_12_SCZ_discovery_controls-Berk1785
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SEPHS2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,TBC1D10B,MYLPF,ZNF48,SEPT1,DCTPP1,ITGAL,SEZ6L2,DOC2A,SMG1P5,ZNF771
van_den_bossche_12_SCZ_discovery_controls-Berk5272
Unknown
Unknown
Unknown
SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SEZ6L2,DOC2A
h16p11.2->m7qF3
# of Model: 41
# of References: 16
Mouse Chromosome Information
This mouse model features either a deletion or a duplication in the qF3 locus of chromosome 7, ranging from Coro1a to Spn. It is syntenic to common breakpoints for 0.52-Mb deletions and duplications in the human 16p11.2 locus.
Model Summary
This is a mouse model of 16p11.2 locus deletions and duplications commonly observed in patients with neuropsychiatric diseases, including ASD. Mice with the deletion exhibit reduced viability, changes in brain architecture, and behavioral abnormalities, whereas mice with the corresponding duplication display a less severe phenotype.
References
Primary
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.
Additional
Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.
Additional
Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion.
Additional
16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.
Additional
Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder.
Additional
16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks.
Additional
Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.
Additional
Enhancing inhibitory synaptic function reverses spatial memory deficits in Shank2 mutant mice.
Additional
Hyperactivity and male-specific sleep deficits in the 16p11.2 deletion mouse model of autism.
Additional
16p11.2 deletion syndrome mice perseverate with active coping response to acute stress - rescue by blocking 5-HT2A receptors.
Additional
R-Baclofen Reverses Cognitive Deficits and Improves Social Interactions in Two Lines of 16p11.2 Deletion Mice.
Additional
Male-specific deficits in natural reward learning in a mouse model of neurodevelopmental disorders.
Additional
Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human.
Additional
Pharmacological Inhibition of ERK Signaling Rescues Pathophysiology and Behavioral Phenotype Associated with 16p11.2 Chromosomal Deletion in Mice.
Additional
5-HT release in nucleus accumbens rescues social deficits in mouse autism model.
Additional
Targeting Peripheral Somatosensory Neurons to Improve Tactile-Related Phenotypes in ASD Models.
Model Type: Genetic
Model Genotype: Compound heterozygous
Construct Definition: Mice carrying both deletion and duplication of the 16p11.2 syntenic region
Synteny: human 16p11.2 BP4-BP5 locus
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: in vivo cre recombination mediated deletion of approximately 0.39 Mb spanning the GIY-YIG domain containing 2 (Giyd2) gene and the septin 1(Sept1) loci on mouse Chromosome 7
Synteny: human chromosome 16p11.2 region
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: A mouse line carrying a microdeletion of mouse chromosome 7qF3, the syntenic region of human chr16p11.2 (ColdSpring Harbor Laboratory). To supplement the colony, F3 heterozygous 16p11.2 heterozygous male mice on a mixed 129/C57BL/6 background were backcrossed greater than 3 generations to C57BL/6J mice from Charles River Laboratory.
Synteny: chr16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Mice carrying a microdeletion of mouse chromosome 7qF3 were treated with STX209 (R-baclofen) in drinking water at 0.5mg/ml provided at libitum. This dose in drinking water has been previously shown to provide a brain exposure equivalent to 6 mg/kg administered by intraperitoneal injection twice a day, which is sufficient to engage GABAB receptors and reduce excessive protein synthesis in the Fmr1-/y mice.
Synteny: chr16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Pregnant dams carrying a microdeletion of mouse chromosome 7qF3 were subcutaneously injected for 5 days starting at day E10.5 with 10 mg/kg ERK inhibitor, which was a mix of cell-penetrating peptides RB1 and RB3.
Synteny: 16p11.2
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Mice carrying a microdeletion of mouse chromosome 7qF3 were subcutaneously injected for 5 days starting at day P90 with 10 mg/kg of ERK inhibitor, which was a mix of cell-penetrating peptides RB1 and RB3.
Synteny: 16p11.2
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Wildtype female mice were mated with heterozygous males to produce control and heterozygous littermates of both sexes because pup survival was low in litters born to heterozygous female dams. Wildtype pups were weaned at 21 days of age and heterozygous mice were weaned at up to 35 days to reduce nutrition-related fatalities.
Synteny: chr16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: R-baclofen was delivered in the home cage drinking water beginning one week before the start of testing and continued throughout assays. Drinking water contained either a 1% saccharin solution (control) or a solution of 0.5 mg/ml R- baclofen in 1% saccharin.
Synteny: chr16p11.2 deletion
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Mice with one copy of the 0.44Mb region corresponding to the 0.52Mb human 16p11.2 CNV, deleted through Cre mediated germline recombination. Male Del mice, heterozygous for the deletion allele, were bred with wildtype female B6129F1/J mice so that maternal behavior would not be impacted by the genetic deficiency.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: 16p11.2 del mice were treated with RS-102221 (4-dione hydrochloride hydrate) dissolved in 0.9% normal saline and administered intraperitoneally in a single, acute dose of 2.0 mg/kg. To reduce fatalities of +/- pups in the pregnant females were supplemented with high-fat rodent chow and fresh fruit. Weanlings and under- weight adults were provided with fresh fruit supplements until 4 wk of age.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: 16p11.2 del mice were treated with (+/-)-2,5-Dimethoxy-4-iodoamphetamine hydrochloride (DOI) dissolved in normal saline and administered intraperitoneally in a single, acute dose of 3.0 mg/kg.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: 16p11.2 del mice were treated with M100907 (MDL-100907, Volinanserin, (R)-(+)-a-(2,3-dimethoxy- phenyl)-1-[2-(4-fluorophenyl)ethyl]-4-pipidinemethanol) dissolved in 0.9% normal saline and administered intraperitoneally in a single, acute dose of 0.003mg/kg 15 min before behavioral testing.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: 16p11.2 del mice were treated with M100907 (MDL-100907, Volinanserin, (R)-(+)-a-(2,3-dimethoxy- phenyl)-1-[2-(4-fluorophenyl)ethyl]-4-pipidinemethanol) dissolved in 0.9% normal saline and administered intraperitoneally in a single, acute dose of 0.01mg/kg 15 min before behavioral testing.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: 16p11.2 del mice were treated with M100907 (MDL-100907, Volinanserin, (R)-(+)-a-(2,3-dimethoxy- phenyl)-1-[2-(4-fluorophenyl)ethyl]-4-pipidinemethanol) dissolved in 0.9% normal saline and administered intraperitoneally in a single, acute dose of 0.1 mg/kg 15 min before behavioral testing. [ 20 times lower than doses that affect vigilance state, Popa et al. 2005].
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic; Induced
Model Genotype: Heterozygous
Construct Definition: Mice with one copy of the 0.44Mb region corresponding to the 0.52Mb human 16p11.2 CNV, deleted through Cre mediated germline recombination. Male Del mice, heterozygous for the deletion allele, were bred with wildtype female B6129F1/J mice so that maternal behavior would not be impacted by the genetic deficiency. Male del mice were subjected to 15-min acute forced-swim stress to evaluate coping behavior as serotonin is known to modify behavioral response to stress.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Mice with pan-neuronal heterozygous 16p11.2 deletion were generated by crossing conditional-ready floxed mice (as used in M_Df(7)_3_HT) to tamoxifen-inducible Nes-Cre-ER (16p11.2^flx;Nes-creER) mice. Tamoxifen was injected after postnatal day 42.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic
Model Genotype: Homozygous
Construct Definition: Mice with pan-neuronal homozygous 16p11.2 deletion were generated by crossing conditional-ready floxed mice (as used in M_Df(7)_3_HT) to tamoxifen-inducible Nes-Cre-ER (16p11.2^flx;Nes-creER) mice. Tamoxifen was injected after postnatal day 42.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Mice with dorsal raphe nucleus specific deletion of 16p11.2 were generated by infusing AAV-DJCre26 into the DRN of 16p11.2^flx mice. To assess DR 5-HT neuron activity during social interaction, Sert-cre mice were infused with AAV-DJ-DIO-GCaM
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Procedural
Model Genotype: Heterozygous
Construct Definition: 16p11.2^flx mice were infused with AAV-DJ-Cre and either DIO-ChR2 or DIO-eYFP (control) into the DRN to express these transgenes in DRN neurons lacking 16p11.2 and implanted with an optic fibre above the DRN for photostimulation.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Mice with serotonergic deletion of 16p11.2 were generated by crossing Sert-Cre mice to floxed mice (Sert-Cre; 16p11.2^flox). To assess DRN 5-HT neuron activity during social interaction, Sert-cre;16p11.2^flx mice were infused with AAV-DJ-DIO-GCaMP6f into
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Mice with serotonergic deletion of 16p11.2 were infused with 5HT1b receptor agonist, CP93129, in the nucleus accumbens (NA) to assess whether pharmacological activation of NAc 5-HT1b receptors was sufficient to rescue the social deficits in 16p11.2 delete
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Procedural
Model Genotype: Heterozygous
Construct Definition: Sert-cre:16p11.2^flx mice were injected with DIO-ChR2 or DIO-eYFP (controls) to specifically activate 5HT neurons in mice lacking 16p11.2 in 5HT neurons. Optic fibers were placed in the DRN cell body.
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Procedural; RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Sert-cre:16p11.2^flx mice expressing DIO-ChR2 in the Dorsal raphe nucleus were infused with either vehicle (control) or NAS-181 into the NA (nucleus accumbens) before behavior assays during optogenetic stimulation of DRN 5HT neurons
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Procedural
Model Genotype: Heterozygous
Construct Definition: To assess the effect of increasing dorsal raphe nucleus (DRN)-5-HT release specifically in the dorsal striatum (DS) Sert-cre:16p11.2^flx mice were injected with DIO-ChR2-eYFP to activate DRN-5HT neuronal terminals in the dorsal striatum in mice lacking 16
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Procedural
Model Genotype: Heterozygous
Construct Definition: To assess the effect of increasing 5-HT release specifically in the NAc Sert-cre:16p11.2^flx mice were injected with DIO-ChR2 or DIO-eYFP (controls) to activate 5HT neurons in mice lacking 16p11.2 in 5HT neurons and optic fibers were placed in the Nac at
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Procedural
Model Genotype: Heterozygous
Construct Definition: To assess the effect of prolonged terminal stimulation of DRN-to-NAc 5-HT neurons beyond the stimulation period, stimulations were performed four times with 2 hrs between sessions on days 3 and 4 so that mice received a total of 10 bouts of DR-to- NAc 5-
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Chromosomal engineering generated deletion of a 0.44-Mb region of mouse chromosome 7
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: The mouse model generated previously by chromosomal engineering generated deletion of a 0.44-Mb region of mouse chromosome 7 was crossed with Drd1a-TdTomato transgenic mice and subsequently with Drd2-EGFP transgenic mice
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Df(7)_1_HT mice were treated with CTEP [2-chloro-4-((2,5-dimethyl-1-(4-(trifluoromethoxy)phenyl)-1H-imidazol-4-yl)ethynyl)pyridine], (Hoffman-LaRoche) by oral gavage, every 48 hours, at a dose of 2mg/kg of body weight for four weeks starting at P28.
Synteny:
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: in vivo cre recombination mediated deletion of approximately 0.39 Mb spanning the GIY-YIG domain containing 2 (Giyd2) gene and the septin 1(Sept1) loci on mouse Chromosome 7; M_Df(7)_11_HT
Synteny: human chromosome 16p11.2 region
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: in vivo cre recombination mediated deletion of approximately 0.39 Mb spanning the GIY-YIG domain containing 2 (Giyd2) gene and the septin 1(Sept1) loci on mouse Chromosome 7. Isoguvacine, 2 mg/kg, i.p., was administered from P1 to P42 to test if it ameliorated tactile hypersensitivity in ASD models with fewer adverse effects than brain-penetrating benzodiazepines such as midazolam, including sedation and cognitive impairment, which are attributed to a CNS site of drug action ; M_Df(7)_11_HT
Synteny: human chromosome 16p11.2 region
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Chromosomal engineering mediated removal of 440kb region from Mmu7: between Coro1a and Spn, the targeting strategy incorporated a mCherry reporter gene introduction into the ESCs
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Chromosomal engineering mediated removal of 440kb region from Mmu7: between Coro1a and Spn, the targeting strategy incorporated a mCherry reporter gene. The resulting 16p+/- mouse was crossed with Drd2-EGFP mice that express GFP under the control of Drd2 gene-regulatory region in the striatopallidal medium spiny neurons
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Df(7)_3_HT mice were treated with 0.2 .g/kg of risperidone or saline
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: These mutant mice possess an engineered deletion spanning approximately 0.39 Mb on mouse Chromosome 7. The region involved encompasses a chromosomal segment, between the GIY-YIG domain containing 2 (Giyd2) gene and the septin 1(Sept1) loci (Jackson stock: B6129S-Del (7Slx1b-Sept1)4Aam/J; Jackson Laboratories Stock no. 013128). In the annotation of PMID 29038598, male mice from this stock were mated to wildtype hybrid B6129SF1/J females of Jackson Stock 101043).
Synteny: mouse Chr7 is syntennic to the ASD critical interval on human Chr 16
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Chromosomal engineering mediated removal of 440kb region from Mmu7: between Coro1a and Spn, the targeting strategy incorporated a mCherry reporter gene introduction into the ESCs: syntenic deletion at mouse chro- mosome 7F3
Synteny: 0.52-Mb human 16p11.2 deletion
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: in vivo cre recombination and targeted meiotic recombination (TAMERE) mediated deletion of the Sult1a1-Spn region on mouse chromosome 7F3 homologous to human 16p11.2 BP4-5 locus
Synteny: human 16p11.2 BP4-BP5 locus
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: in vivo cre recombination and targeted meiotic recombination (TAMERE) mediated deletion of the Sult1a1-Spn region on mouse chromosome 7F3 homologous to human 16p11.2 BP4-5 locus
Synteny: human 16p11.2 BP4-BP5 locus
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Chromosomal engineering generated duplication of a 0.44-Mb region of mouse chromosome 7
Synteny: 0.52-Mb human 16p11.2 duplication
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Duplication of Sult1a1-Spn region homologous to human 16p11.2 BP4-5 locus
Synteny: human 16p11.2 BP4-BP5 locus
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Duplication of Sult1a1-Spn region homologous to human 16p11.2 BP4-5 locus
Synteny: human 16p11.2 BP4-BP5 locus
Developmental profile
Size/growth
1
Decreased
View More
Description:
Del/Dup CHT mice have reduced body weight; female mice are more prone to weight gain after metabolic chanllenges with enriched diet
Exp Paradigm:
Body weight measurement
Body weight measurement
12-24 weeks
Developmental profile
Size/growth
1
Decreased
View More
Description:
Del/Dup CHT mice have reduced body weight; female mice are more prone to weight gain after metabolic chanllenges with enriched diet
Exp Paradigm:
Body length measurement
Body length measurement
12-24 weeks
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle
1
No change
Home cage behavior
3-5months
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle: dark phase
1
No change
Home cage behavior
3-5months
Developmental profile
Developmental trajectory
1
No change
Developmental milestone measurements
E18.5
Developmental profile
Mortality/lethality
1
No change
Survival analysis
E18.5
Emotion
Anxiety
1
No change
Open field test
3-5months
Emotion
Exploratory activity
1
No change
Open field test
3-5months
Learning & memory
Object recognition memory
1
No change
Novel object recognition test
3-5months
Motor phenotype
General locomotor activity: ambulatory activity
1
No change
Home cage behavior
3-5months
Motor phenotype
Hyperactivity
1
No change
Novel cage test
3-5months
Motor phenotype
Motor coordination and balance
1
No change
Footslip test
3-5months
Motor phenotype
Motor coordination and balance
1
No change
Accelerating rotarod test
3-5months
Neurophysiology
Synaptic plasticity
1
No change
Long term potentiation (ltp)
8-9 months
Neurophysiology
Synaptic plasticity
1
No change
Paired-pulse ratio
8-9 months
Neurophysiology
Synaptic transmission
1
No change
Field potential recordings
8-9 months
Physiological parameters
Homeostasis: adiposity
1
No change
Quantitative nmr (qnmr)
13 weeks
Physiological parameters
Metabolic function
1
No change
Comprehensive metabolic evaluation
13 weeks
Physiological parameters
Muscle fiber contraction
1
No change
In vitro electric-pulse-induced isometric smooth muscle contraction
Adult
Physiological parameters
Satiety response
1
No change
General observations
3-5months
Repetitive behavior
Repetitive digging
1
No change
Home cage behavior
3-5months
Repetitive behavior
Stereotypy
1
No change
General observations
3-5months
Repetitive behavior
Stereotypy: climbing
1
No change
Home cage behavior
3-5months
Repetitive behavior
Vertical jumping or back flipping
1
No change
Observation of repetitive behavior
3-5months
Social behavior
Rearing behavior
1
No change
Home cage behavior
3-5months
Social behavior
Social interaction
1
No change
Open field test
3-5months
Not Reported:
Communications,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Physiological parameters,
Seizure,
Sensory,
References:
1:
Arbogast T , et al. 2016
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle: light phase
3
Increased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice spend more time awake across the light phase of the 24 hour circadian cycle, compared to sex-matched wildtype mice.
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Sleep pattern
4
Abnormal
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show increase in time spent awake during the light phase but not during the dark (active) phase, compared to WT sex matached controls, indicating deficits in sleep inititation. Male 16p11.2 heterozygous deletion mutant mice also show abnormal distribution of wake bout length duration spending a higher proportion of wake time in prolonged bouts of continuous wakefulness and less time in bouts of shorter duration, compared to wildtype controls.
Exp Paradigm:
Electroencephalography (EEG) and electromyography (EMG) electrodes were surgically implanted in animals. EEG/EMG signals were sampled at 256 Hz and filtered at 0.330 Hz and 1100 Hz over 24 hours. Males only. Distribution of wakefulness was measured by binning and analysing wake bout duration. Wake bouts were identified as 32s or greater of consecutive wakefulness.
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle: dark phase
4
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice hyperactivity was predominantly during the dark (active) phase.
Exp Paradigm:
Mice were allowed to acclimate to the lighting and social isolation of the activity chambers for 1 week before experimentation. Activity was monitored using an infrared beam-break system.
Home cage behavior
2.5-4.5 months
Circadian sleep/wake cycle
Non rapid eye movement sleep (nrems)
3
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice have less NREM sleeptime than controls, particularly in the final 6 hours of the light phase.
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle
3
Increased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice spend more time awake across the 24-hr day compared to sex-matched wildtype mice.
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Non rapid eye movement sleep (nrems)
4
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice have less NREM sleep time than WT mice across the 24-hr light-dark cycle, primarily due to the final 6 hours of the light phase.
Exp Paradigm:
Males only.
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Circadian rhythms: timing/phases of locomotor activity
3
Increased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice spent a higher proportion of their wake time in prolonged bouts of continuous wakefulness and less time in bouts of shorter duration, compared to sex-matched controls.
Polysomnography
2.5-4.5 months
Motor phenotype
Hyperactivity
4
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice were more active in the horizontal axis than wildtype controls suggesting an intrinsic and not a circadian light-dark induced cause for hyperactivity as circadian rhythms were not changed in these mice.
Exp Paradigm:
Mice were allowed to acclimate to the lighting and social isolation of the activity chambers for 1 week before experimentation. Activity was monitored using an infrared beam-break system.
Home cage behavior
2.5-4.5 months
Motor phenotype
Hyperactivity
3
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice showed showed more infrared beam breaks along the horizontal axis in the home cage, compared to controls.
Home cage behavior
2.5-4.5 months
Neurophysiology
Electroencephalogram (eeg) signature
4
Abnormal
View More
Description:
Female 16p11.2 heterozygous deletion mutant mice show no change in alpha power during wake but showed increased beta power during wake and decrease in low delta power during NREM, compared to wildtype female controls.
Exp Paradigm:
Females only.
Electroencephalogram (eeg)
2.5-4.5 months
Neurophysiology
Stimulus-spike relationship: inhibitory
2
Decreased
View More
Description:
Mutants show decrease in IPSCs compared with controls.
Exp Paradigm:
L4-evoked feedforward excitatory and inhibitory currents converging onto single L2/3 pyramidal cells were measured in the S1 somatosensory cortex in acute slices. EPSC amplitudes were compared at the minimum L4 stimulation intensity required to evoke a detectable EPSC and at peak current amplitude.
Whole-cell voltage clamp
P17-P23
Neurophysiology
Action potential properties: amplitude, rate of depolarization and repolarization
2
Decreased
View More
Description:
Mutants show reduced evoked spike rate in L2/L3 pyramidal neurons of the S1 somatosensory cortex compared with controls.
Exp Paradigm:
S1 somatosensory cortex; acute slices; L2/3 pyramidal neurons
Whole-cell voltage clamp
P17-P23
Neurophysiology
Electroencephalogram (eeg) signature
4
Increased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice have significantly increased alpha power during wake relative to WT littermates, indicating increased arousal and vigilance during quiet wake.
Exp Paradigm:
Males only.
Electroencephalogram (eeg)
2.5-4.5 months
Neurophysiology
Electroencephalogram (eeg) signature
3
Increased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice have increased alpha power during wake relative to sex matched wildtype littermates, discernible only upon binning into frequency bands. Female 16p11.2 heterozygous deletion mutant mice show no change in alpha power but an increase in beta power, during wakefulness, relative to sex matched wildtype littermates. Female 16p11.2 heterozygous deletion mutant mice show decreased low delta power during NREM in comparison to sex matched control littermates. Neither male nor female 16p11.2 heterozygous deletion mutant mice show changes in overall EEG power spectra during wakefulness, NREM, and REM, compared to sex-matched controls, suggesting increased arousal and vigilance during quiet wake in male mutants.
Electroencephalogram (eeg)
2.5-4.5 months
Neurophysiology
Synaptic transmission
2
Increased
View More
Description:
Mutants show increase in E-I conductance ratio compared with controls.
Exp Paradigm:
L4-evoked feedforward excitatory and inhibitory currents converging onto single L2/3 pyramidal cells were measured in the S1 somatosensory cortex in acute slices. EPSC amplitudes were compared at the minimum L4 stimulation intensity required to evoke a detectable EPSC and at peak current amplitude.
Whole-cell voltage clamp
P17-P23
Sensory
Sensory-evoked response: excitation: tactile stimulus
1
Decreased
View More
Description:
Mutants show reduced firing of L2/3 fast but not regular spiking units in the VRC in response to whisker deflections compared with controls, indicating feedforward inhibition is reduced in vivo. Mutants show no change in the fraction of L2/L3 regular spiking units that were responsive to whisker stimulation compared with controls. Mutants show no change in spike latency, jitter and tuning sharpness compared with controls. Mutants show no change in firing rate of L4 regular spiking units in the VRC in response to whisker deflections compared with controls.
Exp Paradigm:
Single unit regular spikes were recorded in C1-2 and D1-2 whisker columns in the VRC (ventral retroslenial cortex) with laminar polytrodes in L4 and L2/3 of S1 in adult urethane-anesthetized mice. Spiking was measured in response to calibrated whisker deflections. Jitter is the standard deviation of spike times 4-50 ms post-stimulus, measured across all whiskers within a units whisker receptive field. Tuning sharpness is the firing rate evoked by the BW (best whisker) divided by the sum of the BW-evoked firing rate plus mean firing rate to all immediately adjacent whiskers.
Whole-cell voltage clamp
P42-P92
Social behavior
Rearing behavior
4
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice were more active than wildtype controls in the activity in the vertical axis.
Exp Paradigm:
Rearing behavior was assessed in an open field fitted with photocells to detect motion.
Open field test
2.5-4.5 months
Social behavior
Rearing behavior
3
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice showed showed more infrared beam breaks along the vertical axis in the home cage, compared to controls.
Exp Paradigm:
Activity measured along the vertical axis
Home cage behavior
2.5-4.5 months
Circadian sleep/wake cycle
Circadian rhythm
3
No change
Home cage behavior
2.5-4.5 months
Circadian sleep/wake cycle
Circadian rhythms: timing/phases of locomotor activity
4
No change
Home cage behavior
2.5-4.5 months
Circadian sleep/wake cycle
Circadian rhythms: timing/phases of locomotor activity
3
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle
3
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle: dark phase
3
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle: light phase
3
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Non rapid eye movement sleep (nrems)
4
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Non rapid eye movement sleep (nrems)
3
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Non rapid eye movement sleep (nrems) pattern
4
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Non rapid eye movement sleep (nrems) pattern
3
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Rapid eye movement sleep (rems)
4
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Rapid eye movement sleep (rems)
3
No change
Polysomnography
2.5-4.5 months
Circadian sleep/wake cycle
Sleep pattern
4
No change
Polysomnography
2.5-4.5 months
Emotion
Anxiety
4
No change
Open field test
2.5-4.5 months
Emotion
Anxiety
4
No change
Elevated zero maze test
2.5-4.5 months
Emotion
Anxiety
3
No change
Open field test
2.5-4.5 months
Emotion
Anxiety
3
No change
Elevated zero maze test
2.5-4.5 months
Motor phenotype
General locomotor activity: ambulatory activity
4
No change
Open field test
2.5-4.5 months
Motor phenotype
General locomotor activity: ambulatory activity
3
No change
Open field test
2.5-4.5 months
Neurophysiology
Action potential firing
2
No change
Cell-attached patch clamp
P17-P23
Neurophysiology
Action potential firing
2
No change
Whole-cell voltage clamp
P42-P92
Neurophysiology
Action potential properties: amplitude, rate of depolarization and repolarization
2
No change
Whole-cell current clamp
P17-P23
Neurophysiology
Decay kinetics of miniature post synaptic currents
2
No change
Whole-cell current clamp
P17-P23
Neurophysiology
Decay kinetics of miniature post synaptic currents
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Epsp-spike relationship
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Intrinsic membrane properties
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Membrane potential
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Network excitability
2
No change
Whole-cell current clamp
P17-P23
Neurophysiology
Network excitability
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Neuronal activation
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Spontaneous post synaptic event amplitude: excitatory currents
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Spontaneous post synaptic event amplitude: inhibitory currents
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Spontaneous post synaptic event frequency: excitatory currents
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Spontaneous post synaptic event frequency: inhibitory currents
2
No change
Whole-cell voltage clamp
P17-P23
Neurophysiology
Synaptic plasticity
2
No change
Whole-cell current clamp
P17-P23
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Motor phenotype,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
NA NA
,
2:
Antoine MW , et al. 2019
,
3:
Angelakos CC , et al. 2016
,
4:
Lim CS , et al. 2016
Motor phenotype
General locomotor activity: ambulatory activity
2
Increased
View More
Description:
Mutants showed an increase in distance traveled compared to controls.
Open field test
3 months
Motor phenotype
General locomotor activity: ambulatory activity
1
Increased
View More
Description:
Mutants travel greater total distance on the open field compared to controls.
Open field test
8-12 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain morphology
2
Increased
View More
Description:
Mutants showed a significant increase in the volume of superior colliculus, periaqueductal gray, hypothalamus, and retrosplenial cortex compared to controls.
Tensor based morphometry
3 months
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain cytoarchitecture
2
Decreased
View More
Description:
Mutants showed a decrease in the number of Ctip2-positive neurons compared to controls.
Immunohistochemistry
P2
Neuroanatomy / Ultrastructure / Cytoarchitecture
Cortical lamination
2
Increased
View More
Description:
Mutants showed abnormal cortical lamination, evidenced by increased expression of Tbr1 in cortical layer VI, compared to controls.
Western blot
E14.5
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain morphology
2
Decreased
View More
Description:
Mutants showed a significant decrease in the volume of lateral septum, entorhinal cortex, and amygdala compared to controls.
Tensor based morphometry
3 months
Neuroanatomy / Ultrastructure / Cytoarchitecture
Hippocampal morphology
2
Decreased
View More
Description:
Mutants showed a decrease in the relative volume of ventral hippocampus compared to controls.
Tensor based morphometry
3 months
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain cytoarchitecture
2
Decreased
View More
Description:
Mutants showed a decrease in the number of Brn1-positive neurons compared to controls.
Immunohistochemistry
P2
Neuroanatomy / Ultrastructure / Cytoarchitecture
Cortical lamination
2
Increased
View More
Description:
Mutants showed abnormal cortical lamination, evidenced by increased expression of Ctip2 in cortical layer V, compared to controls.
Western blot
E14.5
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain cytoarchitecture
2
Increased
View More
Description:
Mutants showed an increase in the number of Tbr1-positive neurons compared to controls.
Immunohistochemistry
P2
Neuroanatomy / Ultrastructure / Cytoarchitecture
Cortical lamination
2
Increased
View More
Description:
Mutants showed increased cortical lamination, evidenced by increased number of TBr1-positive cell in cortical layer VI, compared to controls.
Immunohistochemistry
E14.5
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain size
2
Decreased
View More
Description:
Mutants showed smaller brain volume compared to controls. Mutants, however, showed no change in itracranial volume compared to controls.
Magnetic resonance imaging (mri)
3 months
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain cytoarchitecture
2
Decreased
View More
Description:
Mutants showed a decrease in the number of Satb2-positive neurons compared to controls.
Immunohistochemistry
P2
Neuroanatomy / Ultrastructure / Cytoarchitecture
Cortical lamination
2
Increased
View More
Description:
Mutants showed increased cortical lamination, evidenced by increased number of Ctip2-positive cell in cortical layer V, compared to controls.
Immunohistochemistry
E14.5
Sensory
Olfaction
2
Increased
View More
Description:
Mutants showed an increase in olfactory acuity, evidenced by a significant decrease in time to retrieve buried food, compared to controls.
Buried food test
3 months
Physiological parameters
Hormone levels
2
Increased
View More
Description:
Mutans showed an increase in oxytocin levels compared to controls.
Elisa
3 months
Emotion
Anxiety
2
Decreased
View More
Description:
Mutants showed decreased anxiety, evidenced by an increase in time spent in the center of open field, compared to controls.
Open field test
3 months
Emotion
Anxiety
2
Decreased
View More
Description:
Mutants showed decreased anxiety, evidenced by a decrease in percent time spent in closed arms of elevated plus maze, compared to controls, although there was no change in percent time spent in open arms or open arm immobility time compared to controls.
Elevated plus maze test
3 months
Learning & memory
Cued or contextual fear conditioning: memory of context
1
Decreased
View More
Description:
Mutants freeze less frequently in familiar context where they had previously received a foot shock compared to controls. Mutants spend equal times in the inner and outer zones during the second session whereas wildtype controls spend more time in the outer zones near the walls, potentially reflecting a context recognition deficit across sessions.
Exp Paradigm:
Open field test
Open field test
6-12 weeks
Learning & memory
Cued or contextual fear conditioning: memory of context
1
Decreased
View More
Description:
Mutants freeze less frequently in familiar context where they had previously received a foot shock compared to controls. Mutants spend equal times in the inner and outer zones during the second session whereas wildtype controls spend more time in the outer zones near the walls, potentially reflecting a context recognition deficit across sessions.
Exp Paradigm:
Fear conditioning test
Fear conditioning test
6-12 weeks
Learning & memory
Object recognition memory
1
Decreased
View More
Description:
Mutants explore the familiar and novel object equally compared to control mice that explore the novel object more.
Exp Paradigm:
Discrimination index was calculated as [(time spent exploring novel object) / (time spent exploring novel object + time spent exploring familiar object)].
Novel object recognition test
8-12 weeks
Learning & memory
Cued or contextual fear conditioning: memory of context
2
Increased
View More
Description:
Mutants showed an increase in the number of freezes compared to controls.
Fear conditioning test
3 months
Maternal behavior
Pup retrieval
2
Increased
View More
Description:
Mutants showed an increase in pup retrieval, evidenced by decrease in time to retrieve first, second, and third pups, compared to controls.
Pup retrieval assay
3 months
Molecular profile
Protein expression level evidence
2
Decreased
View More
Description:
Mutants showed a decrease in p27Kip1 expression compared to controls.
Western blot
E14.5
Molecular profile
Signaling: mapk pathway
2
Increased
View More
Description:
Mutants showed an increase in ERK2 phosphorilation compared to controls.
Exp Paradigm:
pERK2/ERK2
Western blot
E14.5
Molecular profile
Cell proliferation
2
Increased
View More
Description:
Mutants showed an increase in BrdU-positive progenitors compared to controls.
Immunohistochemistry
E14.5
Molecular profile
Targeted expression
2
Decreased
View More
Description:
Mutants showed a decrease in total levels of ERK1 compared to controls.
Exp Paradigm:
ERK1/CoxIV
Western blot
E14.5
Molecular profile
Signaling: mapk pathway
2
Increased
View More
Description:
Mutants showed an increase in ERK1 phosphorilation compared to controls.
Exp Paradigm:
pERK1/ERK1
Western blot
P10
Molecular profile
Cell proliferation
2
Decreased
View More
Description:
Mutants showed a decrease in Tbr2-positive intermediate progenitor cells compared to controls.
Immunohistochemistry
E14.5
Molecular profile
Signaling: mapk pathway
2
Increased
View More
Description:
Mutants showed upregulation of ERK phosphorilation in the dorsomedial cortex compared to controls.
Immunohistochemistry
E14.5
Molecular profile
Signaling: mapk pathway
2
Increased
View More
Description:
Mutants showed an increase in ERK1 phosphorilation compared to controls.
Exp Paradigm:
pERK1/ERK1
Western blot
E14.5
Molecular profile
Cell proliferation
2
Decreased
View More
Description:
Mutants showed a decrease in Tbr2 expression compared to controls.
Western blot
E14.5
Molecular profile
Signaling: mapk pathway
2
Increased
View More
Description:
Mutants showed an increase in ERK2 phosphorilation compared to controls.
Exp Paradigm:
pERK2/ERK2
Western blot
P10
Emotion
Anxiety
2
No change
Open field test
3 months
Emotion
Exploratory activity: habituation
1
No change
Novel object recognition test
8-12 weeks
Learning & memory
Object recognition memory
2
No change
Novel object recognition test
3 months
Molecular profile
Protein expression level evidence
2
No change
Western blot
E14.5
Molecular profile
Protein expression level evidence
2
No change
Western blot
E14.5
Motor phenotype
General locomotor activity: ambulatory activity
2
No change
Elevated plus maze test
3 months
Sensory
Olfaction
2
No change
Buried food test
3 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Stoppel LJ , et al. 2017
,
2:
Pucilowska J , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
Refractory
View More
Description:
R-Baclofen treated mutants show no change in total distance travelled compared to vehicle treated mutants.
Open field test
8-12 weeks
Emotion
Exploratory activity: habituation
1
No adverse effect
View More
Description:
R-Baclofen treated mutants show no change in total time spent sniffing compared to vehicle treated mutants.
Exp Paradigm:
Total sniffing during habituation sessions were scored.
Novel object recognition test
8-12 weeks
Learning & memory
Object recognition memory
1
Restored
View More
Description:
R-Baclofen treated mutants explore novel objects more than familiar objects compared to vehicle treated mutants.
Exp Paradigm:
Discrimination index was calculated as [(time spent exploring novel object) / (time spent exploring novel object + time spent exploring familiar object)].
Novel object recognition test
8-12 weeks
Learning & memory
Cued or contextual fear conditioning: memory of context
1
Restored
View More
Description:
R-Baclofen treated mutants freeze more frequently in familiar context where they had previously received a foot shock than vehicle treated mutants. R-Baclofen treated mutants spend increased time in the outer zone and decreased time exploring the inner zones in the second exploration session, compared to untreated mutants.
Fear conditioning test
6-12 weeks
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Stoppel LJ , et al. 2017
Motor phenotype
General locomotor activity: ambulatory activity
1
No adverse effect
View More
Description:
ERK inhibitor treatment had no adverse effect on the distance traveled in mutants.
Elevated plus maze test
3 months
Motor phenotype
General locomotor activity: ambulatory activity
1
Restored
View More
Description:
ERK inhibitor treatment restored the increased in distance traveled in mutants.
Open field test
3 months
Neuroanatomy / Ultrastructure / Cytoarchitecture
Cortical lamination
1
Restored
View More
Description:
ERK inhibitor restored the increased expression of Ctip2 in mutants.
Western blot
E14.5
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain cytoarchitecture
1
Ameliorated
View More
Description:
ERK inhibitor ameliorated the increased number of Tbr1-positive neurons in mutants, with the difference between M_Df(7)_12_HT and M_Df(7)_12_HT_RB1/RB3-1 approaching statistical significance (p=0.0535).
Immunohistochemistry
P2
Neuroanatomy / Ultrastructure / Cytoarchitecture
Cortical lamination
1
Restored
View More
Description:
ERK inhibitor treatment restored increased number of TBr1-positive cells in mutants.
Immunohistochemistry
E14.5
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain morphology
1
Ameliorated
View More
Description:
ERK inhibitor ameliorated the decrease in relative volume of lateral septum in mutants.
Tensor based morphometry
3 months
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain cytoarchitecture
1
Ameliorated
View More
Description:
ERK inhibitor ameliorated the decreased number of Brn1-positive neurons in mutants.
Immunohistochemistry
P2
Neuroanatomy / Ultrastructure / Cytoarchitecture
Cortical lamination
1
Restored
View More
Description:
ERK inhibitor treatment restored increased number of Ctip2-positive cells in mutants.
Immunohistochemistry
E14.5
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain cytoarchitecture
1
Restored
View More
Description:
ERK inhibitor restored the decreased number of Satb2-positive neurons in mutants.
Immunohistochemistry
P2
Neuroanatomy / Ultrastructure / Cytoarchitecture
Cortical lamination
1
Restored
View More
Description:
ERK inhibitor restored the increased expression of Tbr1 in mutants.
Western blot
E14.5
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain cytoarchitecture
1
Restored
View More
Description:
ERK inhibitor restored the decreased number of Ctip2-positive neurons in mutants.
Immunohistochemistry
P2
Neuroanatomy / Ultrastructure / Cytoarchitecture
Hippocampal morphology
1
Restored
View More
Description:
ERK inhibitor restored the decrease in relative volume of ventral hippocampus in mutants.
Tensor based morphometry
3 months
Sensory
Olfaction
1
Restored
View More
Description:
ERK inhibitor restored the decrease in time to retrieve buried food in mutants.
Buried food test
3 months
Emotion
Anxiety
1
Restored
View More
Description:
ERK inhibitor treatment restored the decrease in percent time spent in closed arms of elevated plus maze in mutants, although ERK inhibitor had no effect on percent time spent in open arms or ope arm immobility in mutants.
Elevated plus maze test
3 months
Emotion
Anxiety
1
Restored
View More
Description:
ERK inhibitor restored the increased time spent in the center of open field in mutants.
Open field test
3 months
Learning & memory
Object recognition memory
1
No adverse effect
View More
Description:
ERK inhibitor treatment has no adverse effect on time spent sniffing novel object in mutants.
Novel object recognition test
3 months
Learning & memory
Cued or contextual fear conditioning: memory of context
1
Restored
View More
Description:
ERK inhibitor treatment restored the increase in the number of freezes in mutants.
Fear conditioning test
3 months
Maternal behavior
Pup retrieval
1
Restored
View More
Description:
ERK inhibitor restored the decrease in latency to retrieve pups in mutants.
Pup retrieval assay
3 months
Molecular profile
Protein expression level evidence
1
Restored
View More
Description:
ERK inhibitor treatment restored the decreased p27Kip1 expression in mutants.
Western blot
E14.5
Molecular profile
Cell proliferation
1
Restored
View More
Description:
ERK inhibitor restored the decreased number of Tbr2-positive intermediate progenitor cells in mutants.
Immunohistochemistry
E14.5
Molecular profile
Signaling: mapk pathway
1
Restored
View More
Description:
ERK inhibitor treatment restored the increased ERK1 phosphorilation in mutants.
Exp Paradigm:
pERK1/ERK1
Western blot
P10
Molecular profile
Protein expression level evidence
1
No adverse effect
View More
Description:
ERK inhibitor treatment has no adverse effect on the total levels of ERK2 in mutants.
Exp Paradigm:
ERK2/CoxIV
Western blot
E14.5
Molecular profile
Targeted expression
1
Refractory
View More
Description:
ERK inhibitor treatment has no effect on the decreased total levels of ERK1 in mutants.
Exp Paradigm:
ERK1/CoxIV
Western blot
E14.5
Molecular profile
Cell proliferation
1
Restored
View More
Description:
ERK inhibitor restored the decreased expression of Tbr2 in mutants.
Western blot
E14.5
Molecular profile
Signaling: mapk pathway
1
Restored
View More
Description:
ERK inhibitor treatment restored the increased ERK1 phosphorilation in mutants.
Exp Paradigm:
pERK1/ERK1
Western blot
E14.5
Molecular profile
Protein expression level evidence
1
No adverse effect
View More
Description:
ERK inhibitor treatment had no adverse effect on CyclinD1 expression in mutants.
Western blot
E14.5
Molecular profile
Signaling: mapk pathway
1
Restored
View More
Description:
ERK inhibitor treatment restored the increased ERK2 phosphorilation in mutants.
Exp Paradigm:
pERK2/ERK2
Western blot
P10
Molecular profile
Signaling: mapk pathway
1
Restored
View More
Description:
ERK inhibitor treatment restored the increased ERK phosphorilation in the dorsomedial cortex of mutants.
Immunohistochemistry
E14.5
Molecular profile
Cell proliferation
1
Restored
View More
Description:
ERK inhibitor restored the increased number of BrdU-positive progenitors in mutants.
Immunohistochemistry
E14.5
Molecular profile
Signaling: mapk pathway
1
Restored
View More
Description:
ERK inhibitor treatment restored the increased ERK2 phosphorilation in mutants.
Exp Paradigm:
pERK2/ERK2
Western blot
E14.5
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Social behavior,
References:
1:
Pucilowska J , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
No adverse effect
View More
Description:
ERK inhibitor had no adverse effect on the distance traveled in mutants.
Elevated plus maze test
3 months
Sensory
Olfaction
1
No adverse effect
View More
Description:
ERK inhibitor had no adverse effect on the latency to retrieve buried food in mutants.
Buried food test
3 months
Physiological parameters
Hormone levels
1
Restored
View More
Description:
ERK inhibitor restored the increased oxytocin levels in mutants.
Elisa
3 months
Emotion
Anxiety
1
Refractory
View More
Description:
ERK inhibitor treatment had no significant effect on the increased percent time spent in the open arms of elevated plus maze in mutants. However, ERK inhibitor had the side effect of reduced number of open arm entries in mutants. Moreover, ERK inhibitor treatment had no significant effect on total immobility in mutants.
Elevated plus maze test
3 months
Emotion
Anxiety
1
Side effect
View More
Description:
ERK inhibitor had the side effect of reduced number of center field entries in mutants. However, ERK inhibitor treatment had no adverse effect on time spent in the center of open field in mutants.
Open field test
3 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Social behavior,
References:
1:
Pucilowska J , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
Increased
View More
Description:
Mutants travel greater total distance compared to controls.
Exp Paradigm:
Locomotion was assessed during a 10 min exploration session in the same chambers used for the object location memory task.
Open field test
2-5 months
Social behavior
Social approach
1
Decreased
View More
Description:
Male mutants show decreased interaction with wildtype female compared to controls.
Exp Paradigm:
Adult 16p11.2 wildtype and B6 female mice in estrus were used as stimulus mice for adult male 16p11.2 deletion mice. Social parameters scored in the male subjects included nose-to-nose and nose-to-anogenital sniffing and following.
Reciprocal social interaction test
2-5 months
Communications
Ultrasonic vocalization: interaction induced: opposite sex stimulus
1
Decreased
View More
Description:
Male mutants show decreased ultrasonic vocalizations in the presence of an estrus wildtype female compared to controls.
Exp Paradigm:
Ultrasonic vocalizations were recorded during the 5 minute session.
Monitoring ultrasonic vocalizations
2-5 months
Learning & memory
Spatial reference memory
1
Decreased
View More
Description:
Mutants show spend less time sniffing object in novel location compared to controls.
Exp Paradigm:
Measured as time spent exploring object in novel location
Object-place recognition test
2-5 months
Not Reported:
Circadian sleep/wake cycle,
Developmental profile,
Emotion,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Stoppel LJ , et al. 2017
Motor phenotype
General locomotor activity: ambulatory activity
1
Refractory
View More
Description:
R-Baclofen treated mutants show no change in total distance travelled compared to vehicle treated mutants.
Exp Paradigm:
Locomotion was assessed during a 10 min exploration session in the same chambers used for the object location memory task.
Open field test
2-5 months
Social behavior
Social approach
1
Ameliorated
View More
Description:
R-Baclofen treated mutant males spend more time interacting with a wildtype female compared to vehicle treated mutants. R-baclofen treatment significantly decreased social behaviors in the wildtype controls.
Exp Paradigm:
Adult 16p11.2 wildtype and B6 female mice in estrus were used as stimulus mice for adult male 16p11.2 deletion mice. Social parameters scored in the male subjects included nose-to-nose and nose-to-anogenital sniffing and following.
Reciprocal social interaction test
2-5 months
Communications
Ultrasonic vocalization: interaction induced: opposite sex stimulus
1
Refractory
View More
Description:
R-Baclofen treated mutant males show no change in ultrasonic vocalization numbers compared to vehicle treated mutants. R-Baclofen treated wildtype males show reduced numbers of ultrasonic vocalization calls compared to vehicle treated wildtype.
Exp Paradigm:
Ultrasonic vocalizations were recorded during the 5 minute session.
Monitoring ultrasonic vocalizations
2-5 months
Learning & memory
Spatial reference memory
1
Restored
View More
Description:
R-Baclofen treated mutants spend more time exploring the object at the novel location compared to vehicle treated mutants.
Exp Paradigm:
Measured as time spent exploring object in novel location
Object-place recognition test
2-5 months
Not Reported:
Circadian sleep/wake cycle,
Developmental profile,
Emotion,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Stoppel LJ , et al. 2017
Neurophysiology
Neuronal activation
1
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice showed no change in FOS density in the dorsal striatum compared to controls.
Immunohistochemistry
0.9-1.1 months
Neurophysiology
Neurotransmitter metabolism
1
Decreased
View More
Description:
16p11.2 heterozygous deletion mutant mice showed decrease in serotonin turnover (5-HIAA/5HT ratio) compared to controls, under non-stress conditions., in the dorsal striatum.
High-performance liquid chromatography (hplc)
0.9-1.1 months
Developmental profile
Size/growth
1
Decreased
View More
Description:
16p11.2 heterozygous deletion mutant mice weighed less than controls. Fe mutants weighed less than mutants and controls. There was no significant effect of weight on swimming behavior.
Body weight measurement
0.9-1.1 months
Emotion
Depression
1
Decreased
View More
Description:
16p11.2 heterozygous deletion mutant mice showed a decrease in cumulative immobility scores compared to weight matched and overall controls.
Forced swim test
0.9-1.1 months
Emotion
Acute stress response
1
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice were more active, swam more, and adopted an active coping strategy throughout the test compared to controls that adopted a passive coping strategy and swam less.
Forced swim test
0.9-1.1 months
Emotion
Anxiety
1
No change
Open field test
0.9-1.1 months
Molecular profile
Metabolite levels: neurometabolites
1
No change
High-performance liquid chromatography (hplc)
0.9-1.1 months
Motor phenotype
General locomotor activity
1
No change
Open field test
0.9-1.1 months
Motor phenotype
Spontaneous movement
1
No change
Open field test
0.9-1.1 months
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain cytoarchitecture
1
No change
Immunohistochemistry
0.9-1.1 months
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number
1
No change
Immunohistochemistry
0.9-1.1 months
Neurophysiology
Neuronal activation
1
No change
Immunohistochemistry
0.9-1.1 months
Neurophysiology
Neurotransmitter metabolism
1
No change
High-performance liquid chromatography (hplc)
0.9-1.1 months
Neurophysiology
Neurotransmitter release: catecholamines
1
No change
High-performance liquid chromatography (hplc)
0.9-1.1 months
Neurophysiology
Neurotransmitter release: serotonin
1
No change
High-performance liquid chromatography (hplc)
0.9-1.1 months
Repetitive behavior
Head bobbing
1
No change
General observations
0.9-1.1 months
Repetitive behavior
Self scratching
1
No change
General observations
0.9-1.1 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Immune response,
Learning & memory,
Maternal behavior,
Physiological parameters,
Seizure,
Sensory,
Social behavior,
References:
1:
Panzini CM , et al. 2017
Motor phenotype
General locomotor activity
1
Side effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with RS10221 showed decreased total ambulation on the open field compared to saline treated mutants.
Open field test
0.9-1.1 months
Emotion
Anxiety
1
Side effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with RS10221 showed decreased ambulation in the central regions compared to saline treated mutants.
Open field test
0.9-1.1 months
Emotion
Acute stress response
1
Refractory
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with RS10221 showed no change in coping behavior suggesting a unique contribution of 5-HT2A receptors in this particular behavioral phenotype.
Forced swim test
0.9-1.1 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Panzini CM , et al. 2017
Neurophysiology
Neuronal activation
1
No adverse effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with DOI show no change in FOS density in the prelimbic cortex or dorsal striatum compared to saline injected mutants. Wildtype mice upon DOI injection show increased FOS density in the prelimbic cortex and dorsal striatum compared to saline injected controls.
Immunohistochemistry
0.9-1.1 months
Repetitive behavior
Self scratching
1
Side effect
View More
Description:
16p11.2 heterozygous deletion mutant mice showed decrease in ear scratching after DOI injection, compared to controls injected with DOI that showed increased ear scratching, indicating alterations in 5-HT2 receptor function in mutants.
Exp Paradigm:
Ear scratch events were counted for 10 min after DOI injection. 16p11.2 del mice were treated with (+/-)-2,5-Dimethoxy-4-iodoamphetamine hydrochloride (DOI) dissolved in normal saline and administered intraperitoneally in a single, acute dose of 3.0 mg/kg.
General observations
0.9-1.1 months
Repetitive behavior
Head bobbing
1
Side effect
View More
Description:
16p11.2 heterozygous deletion mutant mice showed decrease in head shaking after DOI injection, compared to controls injected with DOI that show increased head shaking, indicating alterations in 5-HT2 receptor function in mutants.
Exp Paradigm:
Head shake events were counted for 10 min after DOI injection. 16p11.2 del mice were treated with (+/-)-2,5-Dimethoxy-4-iodoamphetamine hydrochloride (DOI) dissolved in normal saline and administered intraperitoneally in a single, acute dose of 3.0 mg/kg.
General observations
0.9-1.1 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Motor phenotype,
Neuroanatomy / ultrastructure / cytoarchitecture,
Physiological parameters,
Seizure,
Sensory,
Social behavior,
References:
1:
Panzini CM , et al. 2017
Motor phenotype
General locomotor activity
1
No adverse effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.003mg/kg Volinanserin show no change in total ambulation on the open field compared to saline treated mutants.
Open field test
0.9-1.1 months
Emotion
Anxiety
1
Side effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.003mg/kg Volinanserin show decreased ambulation in the center of the open field compared to saline treated mutants.
Open field test
0.9-1.1 months
Emotion
Acute stress response
1
Restored
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.003mg/kg Volinanserin show reduction in active coping (swimming) behavior throughout the acute swim stress test.
Forced swim test
0.9-1.1 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Panzini CM , et al. 2017
Motor phenotype
General locomotor activity
1
No adverse effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.01mg/kg Volinanserin show no change in total ambulation on the open field compared to saline treated mutants.
Open field test
0.9-1.1 months
Emotion
Anxiety
1
Side effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.01mg/kg Volinanserin show decreased ambulation in the center of the open field compared to saline treated mutants.
Open field test
0.9-1.1 months
Emotion
Acute stress response
1
Restored
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.01mg/kg Volinanserin show reduction in active coping (swimming) behavior throughout the acute swim stress test.
Forced swim test
0.9-1.1 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Panzini CM , et al. 2017
Motor phenotype
General locomotor activity
1
Side effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.1mg/kg Volinanserin show decreased total ambulation on the open field compared to saline treated mutants.
Open field test
0.9-1.1 months
Neurophysiology
Neuronal activation
1
Restored
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.1mg/kg Volinanserin show reduction in FOS density in the dorsal striatum compared to saline injected mutants. Wildtype controls on 0.1mg/kg Volinanserin treatment show no change in FOS density in the dorsal striatum compared to saline injected controls.
Immunohistochemistry
0.9-1.1 months
Neurophysiology
Neuronal activation
1
Side effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.1mg/kg Volinanserin show reduction in FOS density in the prelimbic cortex compared to saline injected mutants.
Immunohistochemistry
0.9-1.1 months
Emotion
Anxiety
1
Side effect
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.1mg/kg Volinanserin show decreased ambulation in the center of the open field compared to saline treated mutants.
Open field test
0.9-1.1 months
Emotion
Acute stress response
1
Restored
View More
Description:
16p11.2 heterozygous deletion mutant mice treated with 0.1mg/kg Volinanserin show reduction in active coping (swimming) behavior throughout the acute swim stress test.
Forced swim test
0.9-1.1 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Panzini CM , et al. 2017
Neurophysiology
Neurotransmitter release: serotonin
1
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice showed increase in 5HT content in the dorsal raphe nucleus compared to controls, after exposure to acute swim stress.
High-performance liquid chromatography (hplc)
0.9-1.1 months
Neurophysiology
Neurotransmitter metabolism
1
Decreased
View More
Description:
16p11.2 heterozygous deletion mutant mice show decrease in 5-HT turnover (5-HIAA/5-HT) in the dorsal raphe nucleus and hippocampus compared to wildtype controls after exposure to acute forced-swim stress.
High-performance liquid chromatography (hplc)
0.9-1.1 months
Molecular profile
Metabolite levels: neurometabolites
1
Decreased
View More
Description:
16p11.2 heterozygous deletion mutant mice showed decreased 5-HIAA content in the hippocampus, compared to controls, after exposure to acute swim stress.
High-performance liquid chromatography (hplc)
0.9-1.1 months
Molecular profile
Metabolite levels: neurometabolites
1
No change
High-performance liquid chromatography (hplc)
0.9-1.1 months
Neurophysiology
Neurotransmitter metabolism
1
No change
High-performance liquid chromatography (hplc)
0.9-1.1 months
Neurophysiology
Neurotransmitter release: catecholamines
1
No change
High-performance liquid chromatography (hplc)
0.9-1.1 months
Neurophysiology
Neurotransmitter release: serotonin
1
No change
High-performance liquid chromatography (hplc)
0.9-1.1 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Motor phenotype,
Neuroanatomy / ultrastructure / cytoarchitecture,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Panzini CM , et al. 2017
Social behavior
Juvenile play
1
Decreased
View More
Description:
Mutants show decreased juvenile interaction compared with controls.
Reciprocal social interaction test
Adult
Emotion
Anxiety
1
No change
Open field test
Adult
Motor phenotype
General locomotor activity: ambulatory activity
1
No change
Open field test
Adult
Social behavior
Inanimate object preference
1
No change
Novel object recognition test
Adult
Social behavior
Social approach
1
No change
Three-chamber social approach test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
Increased
View More
Description:
Mutants show increase in total distance travelled compared with controls.
Open field test
Adult
Social behavior
Social approach
1
Decreased
View More
Description:
Mutants show decreased social preference compared with controls.
Three-chamber social approach test
Adult
Social behavior
Juvenile play
1
Decreased
View More
Description:
Mutants decreased juvenile interaction compared with controls.
Reciprocal social interaction test
Adult
Emotion
Anxiety
1
No change
Open field test
Adult
Social behavior
Inanimate object preference
1
No change
Novel object recognition test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Social behavior
Social approach
1
Decreased
View More
Description:
Mutants show decrease in social preference compared with controls.
Three-chamber social approach test
Adult
Social behavior
Juvenile play
1
Decreased
View More
Description:
Mutants show decreased juvenile interaction compared with controls.
Reciprocal social interaction test
Adult
Emotion
Anxiety
1
No change
Open field test
Adult
Motor phenotype
General locomotor activity: ambulatory activity
1
No change
Open field test
Adult
Social behavior
Inanimate object preference
1
No change
Novel object recognition test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
No adverse effect
View More
Description:
Optogenetic activation of DRN neurons did not show any change in total distance travelled in mutants compared with controls.
Open field test
Adult
Social behavior
Juvenile play
1
Restored
View More
Description:
Optogenetic activation of DRN neurons rescued juvenile interaction in mutants compared with controls.
Reciprocal social interaction test
Adult
Social behavior
Inanimate object preference
1
No adverse effect
View More
Description:
Optogenetic activation of DRN neurons did not show any change in novel object interaction in mutants compared with controls.
Novel object recognition test
Adult
Social behavior
Social approach
1
Restored
View More
Description:
Optogenetic activation of DRN neurons rescued sociability deficits in mutants compared with controls.
Three-chamber social approach test
Adult
Emotion
Anxiety
1
No adverse effect
View More
Description:
Optogenetic activation of DRN neurons did not change time spent in the center of the open field in mutants compared with controls.
Open field test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Neurophysiology
Spontaneous post synaptic event amplitude: excitatory currents
1
Decreased
View More
Description:
Mutant DRN 5HT neurons show a decrease in the amplitude of sEPSCs compared with controls.
Exp Paradigm:
Sert-cre (control) and Sert-cre:16p11.2^flx mice wererecordings from 5-HT neurons in acute DRN slices.
Whole-cell patch clamp
Adult
Neurophysiology
Neuronal activation
1
Decreased
View More
Description:
Mutants show the magnitude of the increase in DRN 5HT neuronal activity during social interaction was reduced compared with controls.
Fiber photometry
Adult
Neurophysiology
Action potential firing
1
Decreased
View More
Description:
Mutant DRN 5HT neurons show a decrease in spiking in response to depolarizing current pulses compared with controls.
Exp Paradigm:
Sert-cre (control) and Sert-cre:16p11.2^flx mice wereinjected with DIO-eYFP into the DR for whole-cellrecordings from 5-HT neurons in acute DRN slices.
Whole-cell patch clamp
Adult
Social behavior
Juvenile play
1
Decreased
View More
Description:
Mutants show decreased juvenile interaction compared with controls.
Reciprocal social interaction test
Adult
Social behavior
Social approach
1
Decreased
View More
Description:
Mutants show decrease in social preference compared with controls.
Three-chamber social approach test
Adult
Emotion
Anxiety
1
No change
Open field test
Adult
Motor phenotype
General locomotor activity: ambulatory activity
1
No change
Open field test
Adult
Neurophysiology
Spontaneous post synaptic event frequency: excitatory currents
1
No change
Whole-cell patch clamp
Adult
Social behavior
Inanimate object preference
1
No change
Novel object recognition test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
No adverse effect
View More
Description:
5HT1b receptor agonist infusion did not show any change in total distance travelled in mutants compared with controls.
Open field test
Adult
Social behavior
Juvenile play
1
Restored
View More
Description:
5HT1b receptor agonist infusion rescued juvenile interaction in mutants compared with controls.
Reciprocal social interaction test
Adult
Social behavior
Inanimate object preference
1
No adverse effect
View More
Description:
5HT1b receptor agonist infusion did not show any change in novel object interaction in mutants compared with controls.
Novel object recognition test
Adult
Social behavior
Social approach
1
Restored
View More
Description:
5HT1b receptor agonist infusion rescued sociability deficits in mutants compared with controls.
Three-chamber social approach test
Adult
Emotion
Anxiety
1
No adverse effect
View More
Description:
5HT1b receptor agonist infusion did not change time spent in the center of the open field in mutants compared with controls.
Open field test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
No adverse effect
View More
Description:
Optogenetic activation of 5HT DRN neurons did not show any change in total distance travelled in mutants compared with controls.
Open field test
Adult
Social behavior
Juvenile play
1
Restored
View More
Description:
Optogenetic activation of 5HT DRN neurons rescued juvenile interaction in mutants compared with controls.
Reciprocal social interaction test
Adult
Social behavior
Inanimate object preference
1
No adverse effect
View More
Description:
Optogenetic activation of 5HT DRN neurons did not show any change in novel object interaction in mutants compared with controls.
Novel object recognition test
Adult
Social behavior
Social approach
1
Restored
View More
Description:
Optogenetic activation of 5HT DRN neurons rescued sociability deficits in mutants compared with controls.
Three-chamber social approach test
Adult
Emotion
Anxiety
1
No adverse effect
View More
Description:
Optogenetic activation of 5HT DRN neurons did not change time spent in the center of the open field in mutants compared with controls.
Open field test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
No adverse effect
View More
Description:
NAS-181 treatment in DRN 5HT neuron stimulated mutants does not alter distance travelled compared with controls.
Open field test
Adult
Social behavior
Juvenile play
1
Refractory
View More
Description:
Rescue of juvenile interaction in 16p11.2 deletion mutants by 5HT stimulation in the NA is blocked by NAS-181, indicating the rescue of juvenile interaction deficits by DR 5-HT neuron stimulation in mice with 16p11.2 deletion is dependent on NA 5-HT1b rec
Reciprocal social interaction test
Adult
Social behavior
Inanimate object preference
1
No adverse effect
View More
Description:
NAS-181 treatment in DRN 5HT neuron stimulated mutants does not alter novel object interaction time compared with controls.
Novel object recognition test
Adult
Social behavior
Social approach
1
Refractory
View More
Description:
Rescue of social preference in 16p11.2 deletion mutants by 5HT stimulation in the NA is blocked by NAS-181, indicating the rescue of sociability deficits by DR 5-HT neuron stimulation in mice with 16p11.2 deletion is dependent on NA 5-HT1b receptors.
Three-chamber social approach test
Adult
Emotion
Anxiety
1
No adverse effect
View More
Description:
NAS-181 treatment in DRN 5HT neuron stimulated mutants does not alter time spent in the center of the open field compared with controls.
Open field test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
No adverse effect
View More
Description:
Photoactivation of DRN-5HT terminals in the DS in mutants not change total distance travelled compared with controls.
Open field test
1.7 months
Social behavior
Juvenile play
1
No adverse effect
View More
Description:
Photoactivation of DRN-5HT terminals in the DS in mutants does not change juvenile interaction compared with controls.
Reciprocal social interaction test
1 month
Social behavior
Inanimate object preference
1
No adverse effect
View More
Description:
Photoactivation of DRN-5HT terminals in the DS in mutants did not change novel object interaction compared with controls.
Novel object recognition test
1.4 months
Social behavior
Social approach
1
No adverse effect
View More
Description:
Photoactivation of DRN-5HT terminals in the DS in mutants does not change social preference compared with controls.
Three-chamber social approach test
1.2 months
Emotion
Anxiety
1
Side effect
View More
Description:
Photoactivation of DRN-5HT terminals in the DS in mutants decreased time spent in the center of the open field compared with controls.
Open field test
1.7 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Motor phenotype
General locomotor activity: ambulatory activity
1
No adverse effect
View More
Description:
Optogenetic activation of 5HT DRN neurons terminals in the NA did not show any change in total distance travelled in mutants compared with controls.
Open field test
Adult
Social behavior
Juvenile play
1
Restored
View More
Description:
Optogenetic activation of 5HT DRN neuron terminals in the NA rescued juvenile interaction in mutants compared with controls.
Reciprocal social interaction test
Adult
Social behavior
Inanimate object preference
1
No adverse effect
View More
Description:
Optogenetic activation of 5HT DRN neuron terminals in the NA did not show any change in novel object interaction in mutants compared with controls.
Novel object recognition test
Adult
Social behavior
Social approach
1
Restored
View More
Description:
Optogenetic activation of 5HT DRN neuron terminals in the NA rescued sociability deficits in mutants compared with controls.
Three-chamber social approach test
Adult
Social behavior
Social approach
1
Refractory
View More
Description:
Optogenetic activation of 5HT DRN neuron terminals in the NA rescued sociability deficits immediately afterwards in mutants but had no long-lasting effects on sociability when assayed the following day compared with controls, even though they show acute i
Three-chamber social approach test
Adult
Emotion
Anxiety
1
No adverse effect
View More
Description:
Optogenetic activation of 5HT DRN neuron terminals in the NA did not change time spent in the center of the open field in mutants compared with controls.
Open field test
Adult
Learning & memory
Reward reinforced choice behavior
1
No adverse effect
View More
Description:
Optogenetic activation of 5HT DRN neuron terminals in the NA in mutants did not increase preference to food chamber akin to control Sert-cre mice that spent more time in the chamber containing the food pellet.
Exp Paradigm:
To assess the specificity of 5-HT action in the NAc, 5-HT inputs to the NAc were stimulated and interactionswith a non-social appetitive stimulus in a three-chambertest during which a high-fat food pellet was placed in one chamber was measured.
Three-chamber social approach test
Adult
Learning & memory
Reward reinforced choice behavior
1
No adverse effect
View More
Description:
Optogenetic activation of 5HT DRN neuron terminals in the NA in mutants did not increase nose-poking in the optogenetic intracranial self-stimulation compared with controls, indicating 5HT release in the NA, unlike dopamine release is not acutely rein
Operant conditioning paradigm
Adult
Learning & memory
Reward reinforced choice behavior
1
No adverse effect
View More
Description:
Optogenetic activation of 5HT DRN neuron terminals in the NA in mutants did not elicit conditioned place preference compared with controls, indicating 5HT release in the NA, unlike dopamine release is not acutely reinforcing on its own.
Conditioned place preference test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Social behavior
Social approach
1
Refractory
View More
Description:
Prolonged optogenetic activation of 5HT DRN neuron terminals in the NA in mutants had no long-lasting effects on sociability.
Three-chamber social approach test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Motor phenotype,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
References:
1:
Walsh JJ , et al. 2018
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle
4
Increased
View More
Description:
Increased diurnal deficits indicated by increased activity in light and dark periods
Exp Paradigm:
HomeCageScan analysis of activity over sequential dark/light intervals
Home cage behavior
Motor phenotype
General locomotor activity
4
Abnormal
View More
Description:
Abnormal response to locomotor activity in novel environment: increased distance traveled, time spent lingering, and time spent walking; decreased resting
Exp Paradigm:
HomeCageScan system analysis of activity
Home cage behavior
Neuroanatomy / Ultrastructure / Cytoarchitecture
Dendritic architecture: spine density
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show a reduction in dendritic spine density in the dysfunctional PFC, compared to controls.
Golgi-cox staining
Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal morphology: axonal structure
2
Abnormal
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show increased axonal diameter in callosal fibres compared to control.
Electron microscopy
Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain anatomy
4
Abnormal
View More
Description:
Abnormal changes in posterior region of hypothalamus with pronounced changes in lateral zone. Abnormally altered brain structures: changes in basal forebrain, superior colliculus, flrnix, hypothalamus, mammillothalamic tract, medial septum, midbrain, and periaqueductal gray.
Exp Paradigm:
MRI analysis of hypothalamus
Magnetic resonance imaging (mri)
Neuroanatomy / Ultrastructure / Cytoarchitecture
Myelination
2
Increased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show thicker myelin on callosal neurons, compared to controls.
Electron microscopy
Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Anatomical projections and connectivity
2
Increased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show increased projection frequency in the mediodorsal thalamus compared to controls. The mediodorsal thalamus exhibits reduced rsfMRI synchronization with the PFC.
Retrograde labeling assay
Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Dti: fractional anisotropy or relative anisotropy in brain regions
2
Abnormal
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show widespread increase in fractional anisotropy in major white matter tracts, compared to controls, indicating impaired white matter microstructure in mutants.
Whole-cell patch clamp
Adult
Neurophysiology
Synaptic plasticity: hippocampal ltd
1
Increased
View More
Description:
Unlike attenuation of mGluR5- mediated LTD in wild type slices upon exposure to protein translation inhibitor cycloheximide, the LTD induction was unaffected (remained the same and increased compared to WT) in even in the presence of cycloheximide.
Field potential recordings
4-5 weeks
Neurophysiology
Local field potential
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show reduced long-range low-frequency local field potential coherence compared to controls, resulting in a reduction in delta frequency power, indicating impaired low-frequency synchronization in mutants.
Exp Paradigm:
Electrodes were placed in the prefrontal cortex and retrosplenial cortex.
In vivo local field potential (lfp) recordings
Adult
Neurophysiology
Functional magnetic resonance imaging: connectivity
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show focal reduction in global connectivity in the medial prefrontal cortex, reduction in focal connectivity in the posterior parietal and retrosplenial cortices, and medial dorsal thalamus, and also a reduction in long-range connectivity along the rostro-caudal axis of the cingulate and retrosplenial cortex, compared to controls. Male 16p11.2 heterozygous deletion mutant mice show no change in interhemispheric connectivity in subcortical or motor-sensory networks, compared to controls.
Exp Paradigm:
MRI was performed under light halothane sedation.
Magnetic resonance imaging (mri)
Adult
Repetitive behavior
Stereotypy: climbing
4
Increased
View More
Description:
Increased nonprogressive, stereotypic ceiling-climbing behavior
Exp Paradigm:
HomeCageScan system analysis of climbing behavior
Home cage behavior
Developmental profile
Mortality/lethality
4
Increased
View More
Description:
Increased lethality demonstrated by underrepresented litter size
Exp Paradigm:
General Observations
General observations
Learning & memory
Cued or contextual fear conditioning: memory of context
1
Decreased
View More
Description:
Df(7) het mice show decreased freezing/memory when re-exposed to the context where they received the foot shock compared to wild type controls
Fear conditioning test
6-12 weeks
Learning & memory
Cued or contextual fear conditioning: context discrimination
1
Decreased
View More
Description:
Df(7) het mice are unable to differentiate between the training context and a novel context unlike wild type animals
Fear conditioning test
6-12 weeks
Learning & memory
Cued or contextual fear conditioning: passive avoidance
1
Decreased
View More
Description:
Df(7) het mice have decreased acquisition fear memory of passive (inhibitory) avoidance learning as well as extinction of the fear memory, when tested 24 and 48 hrs after the training session. Wild type mice show increased avoidance in the early testing session, followed by significant extinction of memory in the subsequernct testing sessions when they do not receive additional shocks.
Passive avoidance test
6-12 weeks
Molecular profile
Targeted expression
3
Decreased
View More
Description:
Mutants show increase in kctd13 protein levels in the hippocampus and cortex compared with controls.
Western blot
15 weeks
Molecular profile
Gene expression
4
Increased
View More
Description:
Increased differennce of gene expression intensity
Exp Paradigm:
Microarray analysis of olfactory bulbs, cortex, cerebellum, and brainstem
Gene expression microarray
Molecular profile
Protein expression level evidence
3
No change
Western blot
15 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture
Dendritic architecture: spine density
2
No change
Golgi-cox staining
Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology and size of anterior commissure
2
No change
Magnetic resonance imaging (mri)
Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology and size of the corpus callosum
2
No change
Magnetic resonance imaging (mri)
Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology of cranial nerves
2
No change
Magnetic resonance imaging (mri)
Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number
2
No change
Retrograde labeling assay
Adult
Neurophysiology
Miniature post synaptic current amplitude: excitatory
2
No change
Whole-cell patch clamp
Adult
Neurophysiology
Miniature post synaptic current frequency: excitatory
2
No change
Whole-cell patch clamp
Adult
Neurophysiology
Presynaptic function: paired-pulse facilitation
1
No change
Paired-pulse ratio
4-5 weeks
Neurophysiology
Spontaneous post synaptic event amplitude: excitatory currents
2
No change
Whole-cell patch clamp
Adult
Neurophysiology
Spontaneous post synaptic event frequency: excitatory currents
2
No change
Whole-cell patch clamp
Adult
Neurophysiology
Synaptic plasticity: hippocampal ltd
1
No change
Field potential recordings
4-5 weeks
Neurophysiology
Synaptic plasticity: hippocampal ltd
1
No change
Field potential recordings
4-5 weeks
Neurophysiology
Synaptic plasticity: hippocampal ltp
1
No change
Field potential recordings
4-5 weeks
Neurophysiology
Synaptic transmission
1
No change
Field potential recordings
4-5 weeks
Physiological parameters
Homeostasis
2
No change
Blood pressure measurement
Adult
Physiological parameters
Homeostasis
2
No change
Functional magnetic resonance imaging (fmri)-resting state
Adult
Sensory
Foot shock sensitivity
1
No change
Foot shock test
6-12 weeks
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Motor phenotype,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Tian D , et al. 2015
,
2:
Bertero A , et al. 2018
,
3:
Arbogast T , et al. 2018
,
4:
Horev G , et al. 2011
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number: dopamine sensitive neurons: drd2+
1
Increased
View More
Description:
Df(7)hets with Drd1a Tdtomato and Drd2EGFP transgenes have increased number of GFP+ medium spiny neurons (MSNs)
Immunohistochemistry
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number: dopamine sensitive neurons: drd1+
1
Decreased
View More
Description:
Df(7)hets with Drd1a Tdtomato and Drd2EGFP transgenes have decreased number of TdTomato-expressing deep layer cortical neurons compared to wild type controls
Immunohistochemistry
P7
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Motor phenotype,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Portmann T , et al. 2014
Learning & memory
Cued or contextual fear conditioning: passive avoidance
1
Restored
View More
Description:
Treatment with CTEP restores both the acquisition of passive avoidance fear learning and subsequent extinction of the fear memory in Df(7) het mice
Passive avoidance test
8-10 weeks
Molecular profile
Protein expression level evidence
1
Decreased
View More
Description:
Overall protein expression was decreased in hippocampal slices of Df(7) het mice compared to wild type mice
Western blot
4 weeks
Molecular profile
Protein expression level evidence
1
Increased
View More
Description:
Arc protein expression, unlike other proteins, was increased in the hippocampal slices of Df(7) mice
Western blot
4 weeks
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Maternal behavior,
Motor phenotype,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Tian D , et al. 2015
Sensory
Sensorimotor gating: tactile cue
1
Decreased
View More
Description:
Mutants show decrease in percent inhibition of the startle response to a 125 dB noise, when the startle noise is preceded by a light air puff.
Prepulse inhibition
6 weeks
Learning & memory
Object recognition memory
1
No change
Novel object recognition test
6 weeks
Learning & memory
Object recognition memory: long-term recall
1
No change
Novel object recognition test
6 weeks
Sensory
Sensorimotor gating
1
No change
Prepulse inhibition
6 weeks
Sensory
Sensorimotor gating: tactile cue
1
No change
Response to air puff
6 weeks
Sensory
Startle response: acoustic stimulus
1
No change
Response to air puff
6 weeks
Sensory
Tactile discrimination and memory
1
No change
Textured novel object recognition test (t-nort)
6 weeks
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Maternal behavior,
Molecular profile,
Motor phenotype,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Social behavior,
References:
1:
Orefice LL , et al. 2019
Sensory
Sensorimotor gating: tactile cue
1
Refractory
View More
Description:
Isoguvacine did not change decrease in percent inhibition of the startle response to a 125 dB noise, when the startle noise is preceded by a light air puff in mutants. Isoguvacine further reduced tactile PPI in mutants.
Prepulse inhibition
6 weeks
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Motor phenotype,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Social behavior,
References:
1:
Orefice LL , et al. 2019
Motor phenotype
Tremor
1
Increased
View More
Description:
Df(7)hets show increased incidence of tremors ( in a significant fraction of animals) in adults and pups, compared to wild type controls
General observations
P10, adult
Motor phenotype
Gait
1
Decreased
View More
Description:
Df(7)het mice show decrease in fluid gait
General observations
Adult
Motor phenotype
Self grooming: home cage/familiar environment
1
Decreased
View More
Description:
Df(7)hets show decreased self grooming in the home cage compared to wild type littermates
General observations
Motor phenotype
Motor coordination and balance
1
Decreased
View More
Description:
16 11.2 het pups show severe motor coordination defects
General observations
P10
Motor phenotype
Hyperactivity: home cage/familiar environment
1
Increased
View More
Description:
Df(7)hets show increased activity in distance travelled, bouts of hanging compared to wild type littermates
Home cage behavior
P7, Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology of the insular cortex
1
Decreased
View More
Description:
Df(7)het mice have decreased size of the insular cortices compared to wild type
Exp Paradigm:
MRI
Magnetic resonance imaging (mri)
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Thalamic morphology
1
Increased
View More
Description:
Df(7)het mice have increased size of the thalamus
Exp Paradigm:
MRI
Magnetic resonance imaging (mri)
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology of the basal ganglia: lentiform nucleus: globus pallidus
1
Increased
View More
Description:
Df(7)het mice have increased size of the globus pallidus
Exp Paradigm:
MRI
Magnetic resonance imaging (mri)
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number: dopamine sensitive neurons: darpp32+
1
Decreased
View More
Description:
Df(7)hets have reduced number of dopamine sensitive Darpp32 + cells in the deeper layer of the cortex compared to wild type controls
Cell counting
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology of the basal ganglia: ventral striatum or nucleus accumbens
1
Increased
View More
Description:
Df(7)het mice show increased volume of the dorsofrontal portion of the nucleus accumbens compared to wild type controls
Exp Paradigm:
MRI
Magnetic resonance imaging (mri)
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number: striatal medium spiny neurons (msns)
1
Increased
View More
Description:
Df(7)hets have an increase in the pool of MSNs that express either Drd2 or Drd1 or both
Exp Paradigm:
Multiplex single cell quantitative PCR followed by coexpression analysis
Single-cell gene expression analysis
P0
Neuroanatomy / Ultrastructure / Cytoarchitecture
Hypothalamic morphology
1
Increased
View More
Description:
Df(7)het mice have increased size of the hypothalamus
Exp Paradigm:
MRI
Magnetic resonance imaging (mri)
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology of the superior and inferior colliculi
1
Increased
View More
Description:
Df(7)het mice have increased size of the inferior and superior colliculi
Exp Paradigm:
MRI
Magnetic resonance imaging (mri)
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology of the basal ganglia: striatum: caudoputamen
1
Increased
View More
Description:
Df(7)het mice show increased volume of the dorsofrontal portion of the dorsal striatum compared to wild type controls
Exp Paradigm:
MRI
Magnetic resonance imaging (mri)
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number: dopamine sensitive neurons: drd2+
1
Increased
View More
Description:
Df(7)hets have increase in the number of medium spiny neurons in the striatum expressing the dopamine receptor Drd2. these cells also coexpress Adora2a, Penk, Nfh and Plxnd1, Reelin, Robo1, Foxp1 and Ctip2
Exp Paradigm:
Multiplex single cell quantitative PCR followed by coexpression analysis
Cell counting
P0
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain size
1
Decreased
View More
Description:
Df(7)het mice have a significant reduction in brain volume and normalized brain volume on post natal day 7
Pathology
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology of the primary auditory cortex
1
Decreased
View More
Description:
Df(7)het mice have decreased size of the primary auditory cortex compared to wild type
Exp Paradigm:
MRI
Magnetic resonance imaging (mri)
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology of the basal ganglia: striatum: caudoputamen
1
Decreased
View More
Description:
Df(7)het mice show decreased volume of the ventrocaudal areas of the striatum compared to wild type
Exp Paradigm:
MRI
Magnetic resonance imaging (mri)
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number: dopamine sensitive neurons: drd1+
1
Decreased
View More
Description:
Df(7)hets have reduced number of dopamine sensitive Drd1+ cells in the the cortex compared to wild type controls
Cell counting
Neurophysiology
Synaptic neuroreceptor ratio (nmdar/ampar) dependent transmission
1
Decreased
View More
Description:
Df(7)het striatal NAc neurons had a decreased NMDAR mediated EPSC compared to AMPAR mediated EPSC ( increased AMPAR mediated EPSCs) compared to wild type slices
Whole-cell patch clamp
4-8 weeks
Neurophysiology
Presynaptic function: paired-pulse facilitation
1
Decreased
View More
Description:
Df(7)het NAc MSNs had decrease in the paired-pulse ratio across multiple interstimulus intervals, compared to wild type slices and MSNs
Paired-pulse ratio
4-8 weeks
Neurophysiology
Miniature post synaptic current frequency: excitatory
1
Increased
View More
Description:
Df(7)het NAcMSNs had increased frequency of mEPScs compared to wild type MSNs
Whole-cell patch clamp
4-8 weeks
Repetitive behavior
Circling
2
Increased
View More
Description:
A few 16p11.2 heterozygous deletion mutant mice show repetitive circling compared to controls.
General observations
6, 8, 10-12 weeks
Repetitive behavior
Vertical jumping or back flipping
2
Increased
View More
Description:
A few 16p11.2 heterozygous deletion mutant mice show repetitive back flipping compared to controls.
General observations
6, 8, 10-12 weeks
Repetitive behavior
Circling
1
Increased
View More
Description:
Df(7)hets had an increase in circling behavior in 18.75% of the mice.
Home cage behavior
Adult
Sensory
Startle response: acoustic stimulus
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice did not startle in response to 80-120 dB acoustic stimuli, compared to controls.
Acoustic startle reflex test
Adult
Sensory
Hearing
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice did not show auditory brainstem responses to pure tones between 8 and 100 kHz, compared to controls.
Auditory nerve recordings
6-7 weeks, Adult
Sensory
Startle response: acoustic stimulus
1
Decreased
View More
Description:
Df(7)hets do not show a normal response to startle, tested at increasing decibels
Startle response test
Adult
Sensory
Sensorimotor gating
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice did not show prepulse inhibition in response to acoustic stimuli between 74 and 92 dB, compared to controls, because mutant mice were deaf.
Prepulse inhibition
Adult
Sensory
Pain or nociception
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show increased response latency on the hot plate, compared to controls, indicating deficiency in higher brain function.
Hot plate test
Adult
Social behavior
Social memory
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice of cohort 1 exhibit no change in nose sniffing, anogenital sniffing, following, and body sniffing compared to controls, during phase 3 of the male-female social interaction paradigm. Male 16p11.2 heterozygous deletion mutant mice of cohort 2 exhibit no change in nose sniffing, anogenital sniffing, and body sniffing compared to controls but show a reduction in following compared to controls, during phase 3 of the male-female social interaction paradigm.
Reciprocal social interaction test
Adult
Social behavior
Social interaction: opposite sex
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice of two independent cohorts exhibit decreased anogenital sniffing and following compared to controls, but show no change in nose sniffing or body sniffing compared to controls, during the first phase of the three-phase male-female interaction paradigm.
Reciprocal social interaction test
Adult
Communications
Ultrasonic vocalization: interaction induced: opposite sex stimulus: complex syllables
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show decrease in the number of complex, two-component and upward-type USV calls compared to controls, during phase 1 of the male-female social interaction paradigm. Male 16p11.2 heterozygous deletion mutant mice show decrease in the percentage and total number of upward-type USV calls, and the total number of two component USV calls, compared to controls, during phase 2 of the male-female social interaction paradigm. Male 16p11.2 heterozygous deletion mutant mice show no change in peak frequency of USV emissions compared to controls.
Reciprocal social interaction test
Adult
Communications
Ultrasonic vocalization: isolation induced
2
Decreased
View More
Description:
16p11.2 heterozygous deletion mutant mice emit fewer ultrasonic vocalizations when separated from their mother compared to controls, in two of three cohorts.
Monitoring ultrasonic vocalizations
P6
Communications
Ultrasonic vocalization: interaction induced: opposite sex stimulus: complex syllables
2
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice show increased percentage and number of downward and frequency step type USV calls compared to controls. 16p11.2 heterozygous deletion mutant mice show no change in percentage and total number of complex, two-component, upward, chevron and flat type USV calls.
Monitoring ultrasonic vocalizations
P6, 8
Communications
Ultrasonic vocalization: interaction induced: opposite sex stimulus: simple syllables
2
Increased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice show increase in percentage of short-type USV calls compared to controls during phase 1 of the male-female social interaction paradigm. Male 16p11.2 heterozygous deletion mutant mice show no change in peak frequency of USV emissions compared to controls.
Reciprocal social interaction test
Adult
Communications
Ultrasonic vocalization: interaction induced: opposite sex stimulus
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice of the first cohort emitted fewer calls in phase 1 and 2 but not 3 in the three-phase male-female interaction paradigm, compared to controls. Male 16p11.2 heterozygous deletion mutant mice of the second cohort emitted fewer calls in phase 1 and 3 but not 2 in the three-phase male-female interaction paradigm, compared to controls. Male 16p11.2 heterozygous deletion mutant mice of the first cohort emitted fewer calls in the first five minutes with a progressive decline in the number of calls emitted over time, compared to controls.
Monitoring ultrasonic vocalizations
Adult
Communications
Ultrasonic vocalization: interaction induced: opposite sex stimulus: simple syllables
2
Increased
View More
Description:
16p11.2 heterozygous deletion mutant mice show increased percentage and number of short-type USV calls compared to controls.
Monitoring ultrasonic vocalizations
P6, 8
Communications
Ultrasonic vocalization: interaction induced: opposite sex stimulus
2
Decreased
View More
Description:
Male 16p11.2 heterozygous deletion mutant mice emit fewer ultrasonic vocalizations when presented with female urine on a cotton swab, compared to controls.
Urine preference test
Adult
Developmental profile
Size/growth
1
Decreased
View More
Description:
Df(7)het mice show reduced body weight and abdominal fat deposition (in females) during early postnatal development through adulthood, and also have significantly shorter body length
Exp Paradigm:
Body weight measurement
Body weight measurement
P7, Adult
Developmental profile
Size/growth
1
Decreased
View More
Description:
Df(7)het mice show reduced body weight and abdominal fat deposition (in females) during early postnatal development through adulthood, and also have significantly shorter body length
Exp Paradigm:
Body length measurement
Body length measurement
P7, Adult
Developmental profile
Size/growth
2
Decreased
View More
Description:
16p11.2 heterozygous deletion mutant mice show decrease in body weight between P6, P12, and 6, 8 and 10-12 weeks (adult) compared to controls.
Body weight measurement
P6, 8, 10, 12, Adult
Developmental profile
Mortality/lethality
1
Increased
View More
Description:
Df(7)het mice that show reduced body weight died within the first postnatal week.
Survival analysis
Emotion
Exploratory activity: habituation
1
Decreased
View More
Description:
Df(7)hets showed a lack of habituation to a novel environment
Open field test
Learning & memory
Object recognition memory
1
Decreased
View More
Description:
Df(7)hets do not display a preferecne towards the novel object over a familiar object, unlike wild type controls. The same results were found in the 6 trial novel object recongnition despite increased time allowed for habituation to the familiar object
Exp Paradigm:
The conventional novel object recognition protocol was standard.In the 6 trial novel obejct recognition test mice were presented the same object four times with 10 min inter trial interval, followed by the presentation of a novel object and then the last trial had the reintroduction of the familiar object from the first four rounds.
Novel object recognition test
Adult
Communications
Ultrasonic vocalization: isolation induced
2
No change
Monitoring ultrasonic vocalizations
P4,8,10,12
Developmental profile
Size/growth
2
No change
Body weight measurement
P4
Developmental profile
Size/growth
1
No change
Body weight measurement
P0
Emotion
Anxiety
2
No change
Elevated plus maze test
Adult
Emotion
Anxiety
2
No change
Light-dark exploration test
Adult
Learning & memory
Olfactory learning and memory
2
No change
Olfactory habituation-dishabituation test
Adult
Learning & memory
Spatial working memory
1
No change
Barnes maze test
Learning & memory
Spatial working memory
1
No change
Y-maze test
Motor phenotype
General locomotor activity: ambulatory activity
2
No change
Open field test
Adult
Motor phenotype
Grip strength
1
No change
Grip strength test
Motor phenotype
Motor coordination and balance
1
No change
Accelerating rotarod test
Adult
Motor phenotype
Righting response
1
No change
Righting reflex test
Neuroanatomy / Ultrastructure / Cytoarchitecture
Brain size
1
No change
Pathology
Adult
Neuroanatomy / Ultrastructure / Cytoarchitecture
Dendritic architecture: spine density
1
No change
Immunohistochemistry
4-8 weeks
Neuroanatomy / ultrastructure / cytoarchitecture
Neuronal differentiation and specification in the brain
1
No change
Single-cell gene expression analysis
P0
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number: dopamine sensitive neurons: drd1+
1
No change
Cell counting
P0
Neurophysiology
Miniature post synaptic current amplitude: excitatory
1
No change
Whole-cell patch clamp
4-8 weeks
Neurophysiology
Rectification of ion channels
1
No change
Whole-cell patch clamp
4-8 weeks
Physiological parameters
Satiety response
1
No change
Food intake measurements
Adult
Repetitive behavior
Vertical jumping or back flipping
2
No change
Open field test
Adult
Sensory
Pain or nociception
2
No change
Tail flick test
Adult
Social behavior
Social approach
1
No change
Three-chamber social approach test
Adult
Social behavior
Social interaction
1
No change
Reciprocal social interaction test
P21-P25
Social behavior
Social memory
1
No change
Three-chamber social approach test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Seizure,
References:
1:
Portmann T , et al. 2014
,
2:
Yang M , et al. 2015
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number: dopamine sensitive neurons: drd2+
1
Increased
View More
Description:
Df(7)hets with Drd2EGFP showed increased numbers of GFP+ cells ( indicative of increased Drd2 expression) in the striatum compared to the wild type controls
Immunohistochemistry
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuronal number: dopamine sensitive neurons: darpp32+
1
Decreased
View More
Description:
Df(7)hets with Drd2EGFP mice showed reduced number of Darpp32 + neurons in the deep cortical layers, consistent with single cell expression experiments
Immunohistochemistry
P7
Neuroanatomy / Ultrastructure / Cytoarchitecture
Morphology of the basal ganglia: lentiform nucleus: globus pallidus
1
Increased
View More
Description:
Df(7)hets with Drd2EGFP showed severe increase in size of the globus pallidus compared to wild type controls
Immunohistochemistry
P7
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Motor phenotype,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Portmann T , et al. 2014
Motor phenotype
Hyperactivity
1
Refractory
View More
Description:
Acute treatment with risperidone had no effect on increased hyperactivity seen in Df(7)hets, wherease it reduced activity in wild type controls significantly
Open field test
Adult
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Portmann T , et al. 2014
Motor phenotype
Righting response
1
Decreased
View More
Description:
righting count decreased significantly at P4; righting latency increased significantly at P4 and P7.
Exp Paradigm:
only males tested; measured righting response count; righting response time / righting latency- Negative geotaxis test
Negative geotaxis test
P4, P7
Motor phenotype
Gait
1
Decreased
View More
Description:
significant differences overall, particularly in gait, paw image, and paw position; no difference in length of stride; durations of the stride and stance were slightly reduced at P60
Exp Paradigm:
only males tested; Neurocube system measured gait geometry and dynamics, body motion, through neurocube analysis, paw image intensity, paw area, paw position, length of stride, duration of stride, duration of stance, width of hindbase (increased), time in swing phase, rhythm of gait, pivoting, rearing, spead of gait- Running stride analysis
Running stride analysis
1 month, 2 months
Motor phenotype
Jerky movement
1
Increased
View More
Description:
abrupt movements were increased in frequency
Exp Paradigm:
only males tested; Computerized Smartcube analysis
Observation of repetitive behavior
3 months
Motor phenotype
General locomotor activity
1
Increased
View More
Description:
The discrimination between the 16p11.2 WT and df/+ mice only reached 65% (non-significant). Measurements that showed comparatively larger differences between 16p11.2 WT and df/+ mice, contributing to the small non-significant overall differ- ence, were higher complexity of the locomotor trajectory and shorter latencies to approach a visual stimulus in the df/+ compared to WT mice
Exp Paradigm:
Males only
Home cage behavior
3 months
Motor phenotype
Righting response
1
Decreased
View More
Description:
righting count decreased significantly at P4; righting latency increased significantly at P4 and P7.
Exp Paradigm:
only males tested; measured righting response count; righting response time / righting latency-Righting reflex test
Righting reflex test
P4, P7
Motor phenotype
Gait
1
Decreased
View More
Description:
significant differences overall, particularly in gait, paw image, and paw position; no difference in length of stride; durations of the stride and stance were slightly reduced at P60
Exp Paradigm:
only males tested; Neurocube system measured gait geometry and dynamics, body motion, through neurocube analysis, paw image intensity, paw area, paw position, length of stride, duration of stride, duration of stance, width of hindbase (increased), time in swing phase, rhythm of gait, pivoting, rearing, spead of gait-Footprint analysis
Footprint analysis
1 month, 2 months
Neuroanatomy / Ultrastructure / Cytoarchitecture
Neuroreceptor levels: glutamate receptors: mglur
2
Increased
View More
Description:
Mutants show increased mRNA levels of metabotropic glutamate receptor mGluR5 (Grm5), compared to controls.
Quantitative pcr (qrt-pcr)
7 months
Developmental profile
Size/growth
2
Decreased
View More
Description:
Male mutants on an ad libitum or restricted diet showed reduced body weight compared to wildtype males on corresponding diets. Reduction in body weight due to calorie restriction was comparable in male mutants and controls. Female mutants on an ad libitum or restricted diet showed reduced body weight compared to wildtype females on corresponding diets. Reduction in body weight due to calorie restriction was comparable in female mutants and controls.
Exp Paradigm:
Calorie restricted feeding was imposed during operant training.
Body weight measurement
7 months
Developmental profile
Size/growth
1
Decreased
View More
Description:
difference in body weight increased with age
Exp Paradigm:
Males only
General observations
P4, P7, P15, 1 month, 2 months, 2.7 months, 3 months
Emotion
Exploratory activity
2
Decreased
View More
Description:
Male mutants show a deficit in performing the specific exploratory activity that wildtype males employ to earn more reinforcements, although general activity levels are not different in mutant males.
Operant conditioning paradigm
7 months
Learning & memory
Cognitive flexibility: associative learning
2
Decreased
View More
Description:
Mutant males showed no change in the total number of reinforced responses compared with control males. Mutant male reinforced responses were disproportionately targeted to hole 5 (the reinforced hole in the previously learned operant paradigm) over the other possible reinforcing responses for the first several days, compared to controls, indicating mutant males may express deficits in forming actionoutcome associations possibly because of interference from alternative behaviors.
Exp Paradigm:
Animals were trained that responses at any odd-numbered hole, would now be reinforced.
Hole-board test
7 months
Learning & memory
Reward reinforced choice behavior
2
Decreased
View More
Description:
Male mutant mice displayed diminished motivation to work for reinforcement compared with WT males. Mutant males performed fewer correct trials in the 5-CSRTT than controls. Decreased correct performance in male mutants correlated with increased numbers of incorrect trials, indicating reduced response accuracy but no impairment in impulsivity or attention. Mutant males show no change in the number of correct trials compared with control males, with increased training.
Exp Paradigm:
Mice were assessed on a progressive ratio schedule.
Five-choice serial reaction time test (5-csrtt)
7 months
Learning & memory
Olfactory learning and memory
2
Decreased
View More
Description:
Male mutants were significantly delayed at acquiring a nosepoke response under a fixed ratio 1 schedule of reinforcement compared with wild-type males. Mutant males performed the non-rewarded nosepokes in a general pattern whereas wildtype males performed the majority of the non-rewarded nosepoke at the two holes flanking the central hole that was rewarded, indicating an impairment to direct actions to earn reinforcements.
Exp Paradigm:
Mice were trained on a fixed-ratio 1 (continuous reinforcement) nosepoke task in a nine-hole mouse operant chamber while on a mild diet restriction.
Operant conditioning paradigm
7 months
Maternal behavior
Maternal nurturing
1
Decreased
View More
Description:
fewer pups with clear indicaton of milk content at P4;
Exp Paradigm:
only males tested; milk content scored as present or not, in absence of mother
General observations
P4
Molecular profile
Protein phosphorylation
2
Increased
View More
Description:
Mutant males show increased ERK1 phosphorylation under baseline conditions compared to controls. In response to sucrose consumption, mutant males show increased ERK1 phosphorylation compared to control males. Mutant females show increased levels of phosphorylated ERK2, relative to beta-tubulin loading controls, compared to wildtype controls.
Exp Paradigm:
ERK phosphorylation was measured 40 min after the initiation of sucrose consumption.
Western blot
7 months
Molecular profile
Protein expression level evidence
2
Decreased
View More
Description:
Mutant males show decrease in ERK-regulating phosphatase StEP 61 compared to controls.
Western blot
7 months
Molecular profile
Targeted expression
2
Decreased
View More
Description:
Mutant male and female mice show decreased gene expression of 27 genes, including ERK1, located in the mouse homolog of the 16p11.2 region on chromosome 7, compared to controls. In response to sucrose consumption mutants males show reduced total ERK1 expression compared to controls. Total ERK1 protein was reduced in both male and female mutants to 50% of male wild-type levels. ERK1 protein was lower in female wild types than male wild types indicating a partial normalization of mutant female ERK1 levels.
Quantitative pcr (qrt-pcr)
7 months
Molecular profile
Protein expression level evidence
2
Increased
View More
Description:
Mutant females show increased levels of ERK1 and ERK2 protein levels compared to controls.
Western blot
7 months
Molecular profile
Protein phosphorylation
2
Decreased
View More
Description:
Mutants have significantly decreased phosphorylated ERK1 normalized to beta-tubulin consistent with the reduction in ERK1 gene expression.
Western blot
7 months
Molecular profile
Gene expression
2
Increased
View More
Description:
Male mutants showed elevations in mRNA for Drd2 and Adenosine 2a receptor, receptors specific to dopamine indirect pathway signaling in the striatum, compared to controls.
Quantitative pcr (qrt-pcr)
7 months
Communications
Ultrasonic vocalization: interaction induced: opposite sex stimulus
1
No change
Monitoring ultrasonic vocalizations
Communications
Ultrasonic vocalization: isolation induced
1
No change
Monitoring ultrasonic vocalizations
P4, P7, P15
Developmental profile
Developmental trajectory
1
No change
Developmental milestone measurements
P13
Developmental profile
Developmental trajectory
1
No change
Developmental milestone measurements
P4
Emotion
Anxiety
1
No change
Marble-burying test
2 months
Emotion
Depression
2
No change
Sucrose preference test
7 months
Emotion
Exploratory activity
2
No change
Operant conditioning paradigm
7 months
Learning & memory
Cognitive flexibility
1
No change
Water t-maze test
2 months
Learning & memory
Cognitive flexibility: associative learning
2
No change
Hole-board test
7 months
Learning & memory
Cued or contextual fear conditioning: memory of context
2
No change
Fear conditioning test
7 months
Learning & memory
Olfactory learning and memory
2
No change
Operant conditioning paradigm
7 months
Learning & memory
Reward reinforced choice behavior
2
No change
Five-choice serial reaction time test (5-csrtt)
7 months
Learning & memory
Spatial working memory
1
No change
Water t-maze test
2 months
Learning & memory
Stimulus-response learning
2
No change
Sucrose preference test
7 months
Maternal behavior
Maternal nurturing
1
No change
General observations
P7
Molecular profile
Gene expression
2
No change
Quantitative pcr (qrt-pcr)
7 months
Molecular profile
Metabolite levels: neurometabolites
2
No change
High-performance liquid chromatography (hplc)
7 months
Molecular profile
Protein expression level evidence
2
No change
Western blot
7 months
Molecular profile
Protein phosphorylation
2
No change
Western blot
7 months
Motor phenotype
General locomotor activity: ambulatory activity
2
No change
Operant conditioning paradigm
7 months
Motor phenotype
Negative geotaxis
1
No change
Negative geotaxis test
P4, P7, P15
Neurophysiology
Neurotransmitter release: catecholamines
2
No change
High-performance liquid chromatography (hplc)
7 months
Physiological parameters
Core body temperature
1
No change
Body temperature measurement
P4, P7, P15
Sensory
Hearing
2
No change
Auditory brainstem response test
7 months
Sensory
Sensorimotor gating
1
No change
Prepulse inhibition
2 months
Sensory
Startle response: acoustic stimulus
1
No change
Acoustic startle reflex test
2 months
Social behavior
Mating behavior
1
No change
Scent marking test
2 months
Social behavior
Social approach
1
No change
Reciprocal social interaction test
6.4-7.4 weeks
Social behavior
Social interaction
1
No change
Three-chamber social approach test
2 months
Social behavior
Social memory
1
No change
Three-chamber social approach test
2 months
Not Reported:
Circadian sleep/wake cycle,
Communications,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Social behavior,
References:
1:
Brunner D , et al. 2015
,
2:
Grissom NM , et al. 2017
Motor phenotype
Swimming ability
1
Decreased
View More
Description:
12 of 15 mutant mice sank before 60sec
Exp Paradigm:
Swimming abilities evaluated for 60 secs in a 60-cm high cylinder two-third full of 24C water.
Swim test
not reported
Repetitive behavior
Perseveration
1
Increased
View More
Description:
compared with controls, mutants made significantly more errors and took more time to reach 50% correct in reward reinforced paiwise visual discrimination assay
Exp Paradigm:
scored number of errors and days to reach 50% correct response
Novel object recognition test
not reported
Social behavior
Social memory
1
Decreased
View More
Description:
control but not mutant mice preferred the novel mouse when the two stimulus mice were of the same strain (subtle difference)
Exp Paradigm:
gender and age matched pairs used; scoring criterion: location of the nose of the subject within 2 cm around the wire cup
Three-chamber social approach test
not reported
Emotion
Response to novelty
1
Decreased
View More
Description:
exhibited less total sniff time than control during the familiarization phase, although the sniff time was within the normal range
Exp Paradigm:
manual and automated scoring compared, 2 cohorts, n (sample size)=12 each-Novel object interaction test
Novel object recognition test
not reported
Emotion
Response to novelty
1
Decreased
View More
Description:
exhibited less total sniff time than control during the familiarization phase, although the sniff time was within the normal range
Exp Paradigm:
manual and automated scoring compared, 2 cohorts, n (sample size)=12 each- Object-place recognition test
Object-place recognition test
not reported
Learning & memory
Reward reinforced choice behavior
1
Decreased
View More
Description:
mutants required significantly more trials to reach criterion in discrimination learning task, mutants made more errors and correction errors
Exp Paradigm:
Bussey-Saksida touchscreen operant chambers assay: Touchscreen pairwise discrimination and reversal, measuring number of trials to reach criterion, errors and correction errors
Operant conditioning paradigm
not reported
Learning & memory
Cognitive flexibility
1
Decreased
View More
Description:
In the reversal learning task mutants required more trials, made more errors and correction errors
Exp Paradigm:
Bussey-Saksida touchscreen operant chambers assay: Touchscreen pairwise discrimination and reversal, measuring number of trials to reach criterion, errors and correction errors
Operant conditioning paradigm
not reported
Learning & memory
Spatial reference memory
1
Decreased
View More
Description:
mutant mice did not show preference for relocated object
Exp Paradigm:
habituation (60 min on previous day and 30 min on experiement day), familiarization (10 min), 5 min testing session
Object-place recognition test
not reported
Emotion
Exploratory activity
1
No change
Home cage behavior
not reported
Emotion
Exploratory activity
1
No change
Object preference test
not reported
Emotion
Exploratory activity
1
No change
Novel object recognition test
not reported
Learning & memory
Cued or contextual fear conditioning
1
No change
Fear conditioning test
not reported
Sensory
Olfaction
1
No change
Olfactory habituation-dishabituation test
not reported
Social behavior
Social memory
1
No change
Three-chamber social approach test
not reported
Social behavior
Social scent marking or recognition
1
No change
Olfactory habituation-dishabituation test
not reported
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Seizure,
References:
1:
Yang M , et al. 2015
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle: dark phase
1
Increased
View More
Description:
Del HT mice on the C57BL/6N background showed increased ambulatory activity during the dark cycle but no change during the light cycle
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Home cage behavior
3-5months
Motor phenotype
Motor coordination and balance
1
Decreased
View More
Description:
Mutants showed increased hind limb errors compared to wildtype controls
Exp Paradigm:
In the footslip test also called notched bar test, hindlimb errors; Animals had to cross a notched bar and each time a hind paw went through a gap, it was counted as an error;
Footslip test
3-5months
Motor phenotype
Hyperactivity
1
Increased
View More
Description:
Del HT mice on a C57BL/6N background showed hyperactivity compared to wildtype controls
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Novel cage test
3-5months
Motor phenotype
General locomotor activity: ambulatory activity
1
Increased
View More
Description:
Del HT mice on the C57BL/6N background showed increased ambulatory activity during the dark cycle but no change during the light cycle
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Home cage behavior
3-5months
Repetitive behavior
Stereotypy
1
Increased
View More
Description:
Del HT mice on a C57BL/6N background showed increased repetetive jumping compared to WT controls
Exp Paradigm:
Males were used for all behavior analyses
General observations
3-5months
Social behavior
Rearing behavior
1
Increased
View More
Description:
B6N Del HT mice showed increased rearing behavior compared to wildtype controls
Exp Paradigm:
Males were used for behavior analyses
Home cage behavior
3-5months
Physiological parameters
Metabolic function
1
Decreased
View More
Description:
Del HT mice on a C57BL/6N background had impaired adipogenesis
Exp Paradigm:
Adipogenesis
Comprehensive metabolic evaluation
20 weeks
Physiological parameters
Homeostasis: adiposity
1
Decreased
View More
Description:
Del HT mice on a C57BL/6N background had decreased adiposity compared to wildtype controls
Exp Paradigm:
Body composition analysis by qNMR to assess fat content, lean tissues, and free body fluid by NMR apparatus and Minispec analyser; test was conducted during light phase;
Quantitative nmr (qnmr)
13 weeks
Physiological parameters
Glucose levels
1
Decreased
View More
Description:
Del HT mice on a C57BL/6N background have reduced blood glucose levels at 30 and 60min post-injection compared to wildtype controls
Exp Paradigm:
Intra peritoneal glucose tolerance test was performed after overnight fasting
Glucose tolerance test
12 weeks
Developmental profile
Size/growth
1
Decreased
View More
Description:
Del HT mice have reduced body weight; female mice are more prone to weight gain after metabolic chanllenges with enriched diet
Exp Paradigm:
Body length measurement
Body length measurement
12-24 weeks
Developmental profile
Mortality/lethality
1
Decreased
View More
Description:
B6N Del HT mice died in utero or postnatally; 55% neonates died between birth and weaning
Exp Paradigm:
General observations;
Survival analysis
E18.5
Developmental profile
Developmental trajectory
1
Decreased
View More
Description:
B6N Del HT mice showed developmental delay; this delay and reduced weight led to death of approximately 55% Del HT neonates between birth and weaning;
Exp Paradigm:
Developmental milestone measurements;
Developmental milestone measurements
E18.5
Developmental profile
Size/growth
1
Decreased
View More
Description:
Del HT mice have reduced body weight; female mice are more prone to weight gain after metabolic chanllenges with enriched diet
Exp Paradigm:
Body weight measurement
Body weight measurement
12-24 weeks
Emotion
Anxiety
1
Decreased
View More
Description:
Del HT mice on a C57BL/6N background spent more time in the center in open field test compared to WT controls
Exp Paradigm:
Males were used for all behavior analyses
Open field test
3-5months
Learning & memory
Object recognition memory
1
Decreased
View More
Description:
Mutants showed decreased discrimination index after a short time delay (30min) and long time delay (3hrs) compared to wildtype controls
Exp Paradigm:
Discrimination index reflects the ability of mice to distinguish the novel object from the familiar object after a short (30 min) and a long (3 hours) retention delay
Novel object recognition test
3-5months
Molecular profile
Gene expression
1
Decreased
View More
Description:
Gene expression was reduced in mutant mice compared to wildtype controls
Exp Paradigm:
Hematological; Metabolic and biochemical analyses were performed on female mice; Expression signals from 12 liver samples and 44 brain samples (12 cerebellum, 16 striatum, and 16 hippocampus) were quantile normalized separately
Quantitative pcr (qrt-pcr)
15 weeks
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle
1
No change
Home cage behavior
3-5months
Emotion
Exploratory activity
1
No change
Open field test
3-5months
Motor phenotype
Motor coordination and balance
1
No change
Accelerating rotarod test
3-5months
Neurophysiology
Synaptic plasticity
1
No change
Long term potentiation (ltp)
8-9 months
Neurophysiology
Synaptic plasticity
1
No change
Paired-pulse ratio
8-9 months
Neurophysiology
Synaptic transmission
1
No change
Field potential recordings
8-9 months
Physiological parameters
Muscle fiber contraction
1
No change
In vitro electric-pulse-induced isometric smooth muscle contraction
Adult
Physiological parameters
Satiety response
1
No change
General observations
3-5months
Repetitive behavior
Repetitive digging
1
No change
Home cage behavior
3-5months
Repetitive behavior
Stereotypy: climbing
1
No change
Home cage behavior
3-5months
Repetitive behavior
Vertical jumping or back flipping
1
No change
Observation of repetitive behavior
3-5months
Social behavior
Social interaction
1
No change
Open field test
3-5months
Not Reported:
Communications,
Immune response,
Maternal behavior,
Neuroanatomy / ultrastructure / cytoarchitecture,
Physiological parameters,
Seizure,
Sensory,
References:
1:
Arbogast T , et al. 2016
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle: dark phase
1
Increased
View More
Description:
Del HT mice on the C57BL/6N-C3B hybrid background showed increased ambulatory activity during the dark cycle but no change during the light cycle
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Home cage behavior
3-5months
Motor phenotype
Hyperactivity
1
Increased
View More
Description:
Del HT mice on a C57BL/6N-C3B hybrid background showed hyperactivity compared to wildtype controls
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Open field test
3-5months
Motor phenotype
General locomotor activity: ambulatory activity
1
Increased
View More
Description:
Del HT mice on the C57BL/6N background showed increased ambulatory activity during the dark cycle but no change during the light cycle
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Home cage behavior
3-5months
Repetitive behavior
Vertical jumping or back flipping
1
Increased
View More
Description:
Del HT mice on the C57BL/6N-C3B hybrid background showed increased vertical activity during dark cycle and light cycle compared to wildtype controls
Exp Paradigm:
Home cage behavior; Observation of repetitive behavior
Observation of repetitive behavior
3-5months
Repetitive behavior
Stereotypy: climbing
1
Increased
View More
Description:
Del HT mice on a C57BL/6N-C3B hybrid background showed increased repetitive climbing compared to WT controls
Exp Paradigm:
Males were used for all behavior analyses
Home cage behavior
3-5months
Social behavior
Social interaction
1
Decreased
View More
Description:
Del HT mice on the C57BL/6N-C3B hybrid background showed decreased social interaction compared to wildtype controls
Exp Paradigm:
Duration of social interaction behaviors (sniffing and following) between pairs of unfamiliar mice of the same genotype and equivalent body weight tested in a familiar open field area during 10 min
Open field test
3-5months
Physiological parameters
Metabolic function
1
Decreased
View More
Description:
Del HT mice on a C57BL/6N background had impaired adipogenesis
Exp Paradigm:
Adipogenesis
Comprehensive metabolic evaluation
20 weeks
Physiological parameters
Homeostasis
1
Decreased
View More
Description:
Del HT mice on a C57BL/6N background had reduced fat content, lean tissues, and free body fluid compared to wildtype controls
Exp Paradigm:
Body composition analysis by qNMR to assess fat content, lean tissues, and free body fluid by NMR apparatus and Minispec analyser; test was conducted during light phase;
Quantitative nmr (qnmr)
13 weeks
Developmental profile
Size/growth
1
Decreased
View More
Description:
Del HT mice have reduced body weight; female mice are more prone to weight gain after metabolic chanllenges with enriched diet
Exp Paradigm:
Body weight measurement;
Body weight measurement
6-13 weeks
Developmental profile
Mortality/lethality
1
Decreased
View More
Description:
B6N Del HT mice died in utero or postnatally; 55% neonates died between birth and weaning
Exp Paradigm:
General observations;
Survival analysis
E18.5
Developmental profile
Developmental trajectory
1
Decreased
View More
Description:
B6N Del HT mice showed developmental delay; this delay and reduced weight led to death of approximately 55% Del HT neonates between birth and weaning;
Exp Paradigm:
Developmental milestone measurements;
Developmental milestone measurements
E18.5
Learning & memory
Object recognition memory
1
Decreased
View More
Description:
Mutants showed decreased discrimination index after a long time delay (3hrs) compared to wildtype controls
Exp Paradigm:
Discrimination index reflects the ability of mice to distinguish the novel object from the familiar object after a short (30 min) and a long (3 hours) retention delay
Novel object recognition test
3-5months
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle
1
No change
Home cage behavior
3-5months
Emotion
Anxiety
1
No change
Open field test
3-5months
Emotion
Exploratory activity
1
No change
Open field test
3-5months
Motor phenotype
Motor coordination and balance
1
No change
Footslip test
3-5months
Motor phenotype
Motor coordination and balance
1
No change
Accelerating rotarod test
3-5months
Physiological parameters
Satiety response
1
No change
General observations
3-5months
Repetitive behavior
Repetitive digging
1
No change
Home cage behavior
3-5months
Repetitive behavior
Stereotypy
1
No change
General observations
3-5months
Social behavior
Rearing behavior
1
No change
Home cage behavior
3-5months
Not Reported:
Communications,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Seizure,
Sensory,
References:
1:
Arbogast T , et al. 2016
Motor phenotype
General locomotor activity
2
Abnormal
View More
Description:
Abnormal response to locomotor activity in novel environment: decreased distance traveled, time spent lingering, and time spent walking; increased resting
Exp Paradigm:
HomeCageScan system analysis of activity
Home cage behavior
Molecular profile
Targeted expression
1
Increased
View More
Description:
Mutants show decrease in kctd13 protein levels in the hippocampus and cortex compared with controls.
Western blot
15 weeks
Molecular profile
Protein expression level evidence
1
Decreased
View More
Description:
Mutants show decreased RhoA protein levels in the hippocampus and cortex compared with controls.
Western blot
15 weeks
Molecular profile
Gene expression
2
Decreased
View More
Description:
Decreased differennce of gene expression intensity
Exp Paradigm:
Microarray analysis of olfactory bulbs, cortex, cerebellum, and brainstem
Gene expression microarray
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle
2
No change
Home cage behavior
Not Reported:
Circadian sleep/wake cycle,
Communications,
Developmental profile,
Emotion,
Immune response,
Learning & memory,
Maternal behavior,
Motor phenotype,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Repetitive behavior,
Seizure,
Sensory,
Social behavior,
References:
1:
Arbogast T , et al. 2018
,
2:
Horev G , et al. 2011
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle
1
Decreased
View More
Description:
Dup HT mice on the C57BL/6N background showed decreased ambulatory activity during the light cycle compared to wildtype controls
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Home cage behavior
3-5months
Motor phenotype
General locomotor activity: ambulatory activity
1
Decreased
View More
Description:
Dup HT mice on the C57BL/6N background showed decreased ambulatory activity during the light cycle but no change during the dark cycle
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Home cage behavior
3-5months
Motor phenotype
Hyperactivity
1
Decreased
View More
Description:
Dup HT mice on a C57BL/6N background showed hypoactivity compared to wildtype controls
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Novel cage test
3-5months
Repetitive behavior
Vertical jumping or back flipping
1
Decreased
View More
Description:
Dup HT mice showed decreased vertical activity during light or dark cycle compared to wildtype controls
Exp Paradigm:
Home cage behavior; Observation of repetitive behavior
Observation of repetitive behavior
3-5months
Physiological parameters
Glucose levels
1
Increased
View More
Description:
Dup HT mice on a C57BL/6N background have increased blood glucose levels at 0, 15 and 120 min post-injection compared to wildtype controls
Exp Paradigm:
Intra peritoneal glucose tolerance test was performed after overnight fasting
Glucose tolerance test
12 weeks
Developmental profile
Size/growth
1
Increased
View More
Description:
C57BL/6N Dup/+ mice were significantly overweight compared to wt littermates
Exp Paradigm:
Body weight measurement;Body length measurement-Body weight measurement
Body weight measurement
12-24 weeks
Developmental profile
Size/growth
1
Increased
View More
Description:
C57BL/6N Dup/+ mice were significantly overweight compared to wt littermates
Exp Paradigm:
Body weight measurement;Body length measurement- Body length measurement
Body length measurement
12-24 weeks
Emotion
Anxiety
1
Increased
View More
Description:
Dup HT mice on a C57BL/6N background spent less time in the center in open field test compared to WT controls indicating increased anxiety
Exp Paradigm:
Males were used for all behavior analyses
Open field test
3-5months
Emotion
Exploratory activity
1
Decreased
View More
Description:
Dup HT mice on a C57BL/6N background travelled significantly less distance in open field test compared to WT controls indicating reduced exploratory activity
Exp Paradigm:
Males were used for all behavior analyses
Open field test
3-5months
Molecular profile
Gene expression
1
Increased
View More
Description:
Gene expression was increased in mutant mice compared to wildtype controls
Exp Paradigm:
Biochemical analyses were performed on female mice; Expression signals from 12 liver samples and 44 brain samples (12 cerebellum, 16 striatum, and 16 hippocampus) were quantile normalized separately
Quantitative pcr (qrt-pcr)
15 weeks
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle: dark phase
1
No change
Home cage behavior
3-5months
Learning & memory
Object recognition memory
1
No change
Novel object recognition test
3-5months
Motor phenotype
Motor coordination and balance
1
No change
Footslip test
3-5months
Motor phenotype
Motor coordination and balance
1
No change
Accelerating rotarod test
3-5months
Neurophysiology
Synaptic plasticity
1
No change
Paired-pulse ratio
8-9 months
Neurophysiology
Synaptic plasticity
1
No change
Long term potentiation (ltp)
8-9 months
Neurophysiology
Synaptic transmission
1
No change
Field potential recordings
8-9 months
Physiological parameters
Metabolic function
1
No change
Comprehensive metabolic evaluation
20 weeks
Physiological parameters
Muscle fiber contraction
1
No change
In vitro electric-pulse-induced isometric smooth muscle contraction
Adult
Physiological parameters
Satiety response
1
No change
General observations
3-5months
Repetitive behavior
Repetitive digging
1
No change
Home cage behavior
3-5months
Repetitive behavior
Stereotypy
1
No change
General observations
3-5months
Repetitive behavior
Stereotypy: climbing
1
No change
Home cage behavior
3-5months
Social behavior
Rearing behavior
1
No change
Open field test
3-5months
Social behavior
Social interaction
1
No change
Open field test
3-5months
Not Reported:
Communications,
Immune response,
Maternal behavior,
Neuroanatomy / ultrastructure / cytoarchitecture,
Physiological parameters,
Seizure,
Sensory,
References:
1:
Arbogast T , et al. 2016
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle: dark phase
1
Increased
View More
Description:
Del HT mice on the C57BL/6N background showed increased ambulatory activity during the dark cycle but no change during the light cycle
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Home cage behavior
3-5months
Motor phenotype
Hyperactivity
1
Decreased
View More
Description:
Dup HT mice on a C57BL/6N-C3B hybrid background showed hypoactivity during the dark cycle compared to wildtype controls
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Novel cage test
3-5months
Motor phenotype
General locomotor activity: ambulatory activity
1
Increased
View More
Description:
Del HT mice on the C57BL/6N background showed increased ambulatory activity during the dark cycle but no change during the light cycle
Exp Paradigm:
Measured by distance traveled in an activity monitor cage
Home cage behavior
3-5months
Repetitive behavior
Vertical jumping or back flipping
1
Increased
View More
Description:
Dup HT mice on a C57BL/6N-C3B hybrid background showed no change in vertical activity during light cycle but increased vertical activity during dark cycle compared to wildtype controls
Exp Paradigm:
Home cage behavior; Observation of repetitive behavior
Observation of repetitive behavior
3-5months
Repetitive behavior
Stereotypy: climbing
1
Decreased
View More
Description:
Dup HT mice on a C57BL/6N-C3B background showed decreased repetitive climbing compared to WT controls
Exp Paradigm:
Males were used for all behavior analyses
Home cage behavior
3-5months
Social behavior
Social interaction
1
Decreased
View More
Description:
Dup HT mice on a C57BL/6N-C3B hybrid background showed reduced social interaction compared to wildtype controls
Exp Paradigm:
Duration of social interaction behaviors (sniffing and following) between pairs of unfamiliar mice of the same genotype and equivalent body weight tested in a familiar open field area during 10 min
Open field test
3-5months
Social behavior
Rearing behavior
1
Increased
View More
Description:
B6N Del HT mice showed increased rearing behavior compared to wildtype controls
Exp Paradigm:
Males were used for behavior analyses
Home cage behavior
Physiological parameters
Metabolic function
1
Decreased
View More
Description:
Dup HT mice on a C57BL/6N background had impaired adipogenesis
Exp Paradigm:
Adipogenesis
Comprehensive metabolic evaluation
20 weeks
Physiological parameters
Homeostasis
1
Decreased
View More
Description:
Dup HT mice on a C57BL/6N background had reduced fat content, lean tissues, and free body fluid compared to wildtype controls
Exp Paradigm:
Body composition analysis by qNMR to assess fat content, lean tissues, and free body fluid by NMR apparatus and Minispec analyser; test was conducted during light phase;
Quantitative nmr (qnmr)
13 weeks
Developmental profile
Size/growth
1
Decreased
View More
Description:
Del HT mice have reduced body weight; female mice are more prone to weight gain after metabolic chanllenges with enriched diet
Exp Paradigm:
Body weight measurement;
Body weight measurement
6-13 weeks
Developmental profile
Mortality/lethality
1
Decreased
View More
Description:
B6N Del HT mice died in utero or postnatally; 55% neonates died between birth and weaning
Exp Paradigm:
General observations;
Survival analysis
E18.5
Developmental profile
Developmental trajectory
1
Decreased
View More
Description:
B6N Del HT mice showed developmental delay; this delay and reduced weight led to death of approximately 55% Del HT neonates between birth and weaning;
Exp Paradigm:
Developmental milestone measurements;
Developmental milestone measurements
E18.5
Learning & memory
Object recognition memory
1
Increased
View More
Description:
Mutants showed increased discrimination index after a long time delay (3hrs) compared to wildtype controls
Exp Paradigm:
Discrimination index reflects the ability of mice to distinguish the novel object from the familiar object after a short (30 min) and a long (3 hours) retention delay
Novel object recognition test
3-5months
Circadian sleep/wake cycle
Locomotor activity in diurnal cycle
1
No change
Home cage behavior
3-5months
Emotion
Anxiety
1
No change
Open field test
3-5months
Emotion
Exploratory activity
1
No change
Open field test
3-5months
Motor phenotype
Motor coordination and balance
1
No change
Footslip test
3-5months
Motor phenotype
Motor coordination and balance
1
No change
Accelerating rotarod test
3-5months
Physiological parameters
Satiety response
1
No change
General observations
Repetitive behavior
Repetitive digging
1
No change
Home cage behavior
3-5months
Repetitive behavior
Stereotypy
1
No change
General observations
3-5months
Not Reported:
Communications,
Immune response,
Maternal behavior,
Molecular profile,
Neuroanatomy / ultrastructure / cytoarchitecture,
Neurophysiology,
Physiological parameters,
Seizure,
Sensory,
References:
1:
Arbogast T , et al. 2016