3q29CNV Type: Deletion-Duplication
Largest CNV size: 1689956 bp
Statistics Box:
Number of Reports: 69
Number of Reports: 69
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
Deletion
1.3Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.
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
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
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
Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
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
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Deletion
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.
Deletion
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Deletion
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
84567
0
1
1
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
161010
1
0
1
bauleo_23_ASD/DD/ID_discovery_cases
Two brothers with neurodevelopmental disorders with a small 3q29 microduplication containing the DLG1 gene that was inherited from their unaffected mother.
2
Both brothers presented with developmental delay; the older brother was also diagnosed with autism spectrum disorder (ASD) and moderate intellectual disability, while the younger brother also presented with autistic features.
Range, 2-4 yrs.
Male
432000
0
2
2
biamino_15_ASD/ID_discovery_cases
Proband carrying a novel familial 3q29 deletion centromeric to the 3q29 deletion region that segregated with psychiatric disorders (schizophrenia, major depression, anxiety disorder, personality disorder) in the proband's family
1
Proband diagnosed with severe autism accompanied with cognitive delay at age of 30 months after evaluation with ADOS module 1 (communication score 9, reciprocal social interaction score 12), CARS (score of 39), and VABS (age-equivalent score of 20 months versus chronological age of 4 years).
9 yrs.
Female
1360000
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
432716
1
0
1
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
5399717
0
1
1
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
124355
1
0
1
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
1560000
1
0
1
citta_13_ID/ASD_discovery_cases
Patients with 3q29 microdeletions recruited in two different Italian research and care hospitals: IRCCS Oasi Maria Santissima, Troina, and IRCCS Carlo Besta, Milan.
4
All four patients met DSM-IV-TR criteria for intellectual disability (ID); cognitive performances assessed using Wechsler Intelligence Scale for Children (WISC-III) or Leiter International Performace Scale -Revised (LIPS-R). One patient with additional comorbidity of PDD-NOS; behavioral performances assessed using Children Behavior Check List (CBCL), adaptive performances assessed using Vineland Behavior Adaptive Scale (VABS).
Range, 12-14 yrs.
50% Male
1607314
4
0
4
cobb_10_ASD_discovery_cases
Male patient, fourth of five child born at term gestation to healthy non-consanguineous parents.
1
ASD (diagnosis criteria unknown). Additional diagnosis of ADHD (inattentive type), diagnosis tools unknown.
6.75
Male
1300000
1
0
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1740000
11
6
17
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
247667
2
0
2
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
133344
0
1
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
1502487
2
0
2
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
22133
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
149164
0
2
2
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
134366
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
0
1
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
51156
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.
119071
22
19
41
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
1610000
20
18
38
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
2153582
2
3
5
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
2153582
6
0
6
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
97905
10
25
35
granerud_22_ASD_discovery_case
Individual with a de novo 3q29 deletion included in a family study of symbolic learning and synaptic plasticity in autism spectrum disorder.
1
Case diagnosed with autistic disorder (ICD-10 diagnosis F84.0) at 6 years of age with ADI and ADOS.
23 yrs.
Male
1591475
1
0
1
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
455116
0
2
2
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
349796
0
1
1
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
1524042
2
0
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
4203614
10
15
25
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
94065
0
1
1
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
1070000
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
1494502
2
1
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1074625
4
3
7
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
1692142
0
1
1
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
1627239
3
0
3
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
1692143
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
2040881
4
0
4
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
500000
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
514000
0
3
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
1630060
1
1
2
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
1672701
1
0
1
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
1612058
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
1442000
0
1
1
massier_24_ASD/ADHD/DD/ID_discovery_cases
Individuals from a French cohort of 27 families with a 3q29 duplication identified by CMA recruited from 14 French genetic centers from December 2018 to October 2022.
39
The most frequently observed neurodevelopmental phentoypes in this cohort were developmental delay, learning disability, intellectual disability, and behavioral disorders, including autism spectrum disorder and ADHD.
Range, fetus-adulthood
43.59% Male
3027591
0
39
39
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
846088
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
1594000
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
53687
0
3
3
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
350489
1
2
3
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
1704322
1
0
1
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)
163625
0
4
4
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
701745
4
4
8
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
1666108
1
2
3
quintero-rivera_10_ASD_discovery_cases
Two patients (one Caucasian female, one Hispanic male) with 3q29 microdeletions
2
Autism, mental retardation/intellectual disability, & psychiatric symptoms
Range, 10-15 yrs.
50% Male
2100000
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
636000
0
1
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
1700000
1
0
1
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
2438912
1
1
2
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
1
0
1
sagar_13_ASD/ID_discovery_cases
Patient with 3q29 deletion from the Simons Simplex Collection previousy described in Sanders et al. 2011 CNV report (sanders_11_ASD_discovery_cases-11079.p1)
1
Diagnosis of autism based on meeting criteria on ADOS and ADI-R following enrollment in SSC study at age of 12 years (previous diagnosis of PDD-NOS at age of 4 years); additional diagnoses of intellectual disability (FSIQ of 53 on DAS) and childhood psychosis.
16 yrs.
Male
1580000
1
0
1
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
135371
0
1
1
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
1689956
55
9
64
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
1638588
1
0
1
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
126226
0
2
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
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)
453000
0
1
1
speevak_11_DD_discovery_cases
Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
1
Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
4.5 yrs.
Male
37500
1
0
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
1620789
2
0
2
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
126226
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
0
0
0
0
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
197000
2
0
2
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
5701000
1
0
1
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
147893
0
2
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
1519762
1
0
1
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
1708000
1
0
1
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
2602669
3
1
4
zhang_23_ASD/DD/ID_discovery_cases
Patients diagnosed with ASD from the the Department of Psychiatry, Beijing Children's Hospital, from July 2019 to May 2021.
354
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria; the two most common features of ASD cases in this cohort were intellectual disability and language delay.
Range, 1-12 yrs.
78.81% Male
2222430
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
1740000
0
2
2
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.
119071
0
0
0
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1610000
0
0
0
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
0
0
0
0
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
0
0
0
0
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
620472
20
18
38
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
NA
NA
NA
NA
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
1588611
0
1
1
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
94065
1
5
6
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
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
506006
1
2
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
509173
3
8
11
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
0
0
0
0
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
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
226184
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
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)
409906
0
3
3
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)
701745
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
636000
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
283663
40
3
43
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
27886
0
2
2
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
0
0
0
0
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
0
0
0
0
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
0
0
0
0
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
0
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
147893
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bauleo_23_ASD/DD/ID_discovery_cases
Italy
aCGH
Agilent 4x180K
ADM-2
Agilent CytoGenomics v.5.0.2.5
RT-PCR
biamino_15_ASD/ID_discovery_cases
Italy
aCGH
Agilent 44K
ADM-2
Agilent CGH Analytics v.4.0.81
Real-time qPCR
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
None
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
citta_13_ID/ASD_discovery_cases
Italy
aCGH, karyotyping, FISH
Agilent Human Genome CGH Oligo Microarray 60K, 44K, and 180K
None
cobb_10_ASD_discovery_cases
aCGH
BACS aCGH (ClariSure 1 MB array)
Genepix 6.0, oneClickCGH (Infoquant)
FISH
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
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
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
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
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
None
girirajan_11_ASD_discovery_cases
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_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
None
granerud_22_ASD_discovery_case
Norway
Targeted sequencing
Agilent SureSelect Target Enrichment System, Illumina MiSeq
NA
NA
None
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
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)
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_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
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
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
massier_24_ASD/ADHD/DD/ID_discovery_cases
France
CMA
qPCR, FISH, or qMPSF
mulle_13_SCZ_discovery_cases_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
qPCR
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
FISH
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
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
quintero-rivera_10_ASD_discovery_cases
Caucasian (n=1), Hispanic (n=1)
Array SNP
Affymetrix 6.0
FISH
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
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
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sagar_13_ASD/ID_discovery_cases
N/A
Solid phase hybridization
Illumina Human 1M BeadChip
FISH, aCGH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
schaefer_10_ASD_discovery_cases
aCGH
Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
GenePix Pro 6.0, SpectralWare CGH analysis software
FISH
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
speevak_11_DD_discovery_cases
NA
aCGH
CytoChip 105K array
BlueFuse Multi
None
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
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
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)
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
zhang_23_ASD/DD/ID_discovery_cases
China
WGS
Illumina Novaseq
NA
CNVnator (v.1.2.2), BIC-Seq (v.0.7.2)
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
mulle_13_SCZ_discovery_controls_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case190
8.17 yrs.
M
ASD
Autism. Growth parameters: height 1.29 m, weight 25 kg, head circumference 52 cm. Family history: no data on familial consanguinity.
196004758
196089324
84567
GRCh38
Duplication
No
annunziata_21_ASD_discovery_cases-caseIB254
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
196020984
196181993
161010
GRCh38
Deletion
Yes
bauleo_23_ASD/DD/ID_discovery_cases-caseII-2
4 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: delivery by C-section at 38 weeks gestation due to previous C-section; birth weight 3350 (71st %ile) and head circumference 31 cm. Developmental milestones: walked unaided at 16 months, acquired sphincter control at 4 years; pronounced first words at 8 months but experienced severe language regression with total loss of previously acquired skills at 13 months concomitantly with acute gastroenteritis; development quotient (DQ) score of 76 (consistent with a developmental age of 24 months) on Brunet-Lezine test at 41 months of age. Language and communication evaluation: difficulty in expressive language. Behavioral/psychiatric evaluation: autistic traits (discomfort in socialization with peers, stereotyped and repetitive motor behaviors); neurodevelopmental disorder consistent with autism spectrum disorder was diagnosed at 41 months; sleep disturbance (altered sleep-wake cycle with difficulty falling asleep and frequent nighttime awakenings). EEG: normal. Family history: both parents were unaffected; no family history of malformations, genetic diseases, intellectual disability, or neuropsychiatric disorders, other than a history of mild language delay in the maternal lineage, was reported; similarly affected younger brother (II-3) and unaffected older sister (II-1) also have the maternally-inherited 3q29 duplication.
Moderate intellectual disability
197165697
197597696
432000
GRCh38
Duplication
Yes
bauleo_23_ASD/DD/ID_discovery_cases-caseII-3
2 yrs.
M
Developmental delay and autistic features
Birth/neonatal history: delivery by C-section at 38 weeks gestation; birth weight 3350 g (71st %ile); hospitalized in the first week of life due to hypoxic-ischemic distress caused by accidental ingestion of amniotic fluid. Developmental milestones: produced first words and walked independently at 14 months; global developmental quotient score of 79 with expressive-receptive language and mild psychomotor delay on the Brunet-Lezine test. Motor and musculoskeletal evaluation: oral hypotonia. Behavioral/psychiatric evaluation: difficulties in social interaction, stereotyped behavior. Additional medical history: chewing difficulties, recurrent ear infections. Family history: both parents were unaffected; no family history of malformations, genetic diseases, intellectual disability, or neuropsychiatric disorders, other than a history of mild language delay in the maternal lineage, was reported; similarly affected older brother (II-2) and unaffected older sister (II-1) also have the maternally-inherited 3q29 duplication.
197165697
197597696
432000
GRCh38
Duplication
Yes
biamino_15_ASD/ID_discovery_cases-probandIV-2
9 yrs.
F
Autism and intellectual disability
Proband diagnosed with severe autism accompanied with cognitive delay at age of 30 months after evaluation with ADOS module 1 (communication score 9, reciprocal social interaction score 12), CARS (score of 39), and VABS (age-equivalent score of 20 months versus chronological age of 4 years). Birth/neonatal history: pregnancy reported as normal, with exception of a positive Wald test; normal fetal karyotype (46,XX); born by spontaneous delivery at term; birth weight of 3120 g (25th %ile), length of 50 cm (50th %ile), and OFC of 35 cm (75th %ile); Apgar scores 9/10; suffered from GERD and milk protein intolerance since first months of life. Developmental milestones: reached motor milestones within expected range (independent walking at 14 months); initially referred for langauge delay at age of 30 months. EEG: normal. Brain imaging: normal brain MRI. Behavioral/psychiatric evaluation: motor stereotypies and bruxism at last clinical evaluation (age of 9 years), selective eating with no hyperphagia, nocturnal awakenings, occasional self-injuries. Gastrointestinal evaluation: constipation. Dysmorphic features: acanthosis nigricans on neck and armpits, otherwise no evident facial dysmorphisms. Growth parameters: infantile obesity (weight of 53 kg, height of 138 cm, BMI of 27.8) at age of 9 years; normal growth pattern during initial clincial examination at age of 30 months [weight of 14 kg (50th %ile), height of 95 cm (50th %ile), OFC of 48.5 cm (25th %ile)]. Family history: family history remarkable for psychiatric and ophthalmologic disorders that segregate with the 3q29 deletion in this pedigree; proband's mother (III-6) with history of anxiety disorder, major depression, and obesity; two maternal aunts and a brother of the maternal grandmother (individuals III-4, III-5, and II-3 in this family) were institutionalized for schizophrenia; anxiety disorder reported in maternal great-grandmother (I-2); subject III-1 in this family with ASD, social anxiety, and borderline personality disorder; subject II-2 with dysthymia, avoidant personality disorder, and microcephaly; learning disabilities reported for subjects II-3 and III-4; deletion non-carriers III-2 and III-3 had no history of cognitive and psychiatric disorder.
Severe cognitive delay (Griffith scale total quotient=34) at last clinical evaluation (age of 9 years)
193329064
194686656
1357593
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case2-1207-003
N/A
M
ASD
Case from MSSNG cohort
195299549
195726122
426574
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case332
N/A
F
Developmental delay and intellectual disability
Developmental delay, intellectual disability, and facial dysmorphism
Intellectual disability
192725399
198125115
5399717
GRCh38
Duplication
No
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
195631406
195755761
124356
GRCh38
Deletion
No
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1844
N/A
F
Developmental delay
Developmental delay
Developmental delay
196005085
197558974
1553890
GRCh38
Deletion
Yes
citta_13_ID/ASD_discovery_cases-patient1
12 yrs.
M
Intellectual disability (ID)
Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 91; externalizing, 84; total, 66. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 10.0; daily living skills, 9.2; socialization, 10.4; total, 10.0. Birth/neonatal history: delivery at pregnancy week 40; birth weight of 2.850 kg (10th %ile), birth length of 49 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 6 months, walking at 12 months, babbling at 12 months, first word at 15 months. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test. Skeletal abnormalities and chest wall deformities: brachycephaly and pectus carinatum. EEG: normal. Cardiac defects: none. Ocular abnormalities: yes (not specified). Additional features: joint hyperlaxity; REED nevus. Dysmorphic features: high nasal bridge, large posteriorly rotated ears, long narrow face, high palate. Growth parameters: current weight 75th %ile, current height 75th %ile.
Mild intellectual disability; IQ score of 63 (WISC-III), similar verbal IQ and performance IQ scores; mainstream school education with support
196013486
197583521
1570036
GRCh38
Deletion
No
citta_13_ID/ASD_discovery_cases-patient2
12 yrs.
F
Intellectual disability (ID)
Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 71; externalizing, 67; total, 71. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 7.0; daily living skills, 6.4; socialization, 5.9; total, 6.4. Birth/neonatal history: delivery at pregnancy week 39; birth weight of 3.250 kg (50th %ile), birth length of 50 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 6 months, walking at 13 months, babbling at 8 months, first word at 12 months. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test. Skeletal abnormalities and chest wall deformities: brachycephaly and kyphosis. EEG: spikes of right frontal region. Cardiac defects: none. Ocular abnormalities: yes (not specified). Additional features: nasal voice. Dysmorphic features: high nasal bridge, short philtrum, large posteriorly rotated ears, clinodactyly, widely spaced teeth. Growth parameters: current weight 3rd-10th %ile, current height 10th %ile.
Moderate intellectual disability; IQ score of 48 (WISC-III), verbal IQ score significantly lower than performance IQ score; mainstream school education with support
196005085
197612399
1607315
GRCh38
Deletion
No
citta_13_ID/ASD_discovery_cases-patient3
13 yrs.
M
Intellectual disability (ID) and PDD-NOS
Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 58; externalizing, 53; total, 59. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 5.11; daily living skills, 3.6; socialization, 2.8; total, 3.8. Birth/neonatal history: delivery at pregnancy week 41; birth weight of 2.735 kg (10th %ile), birth length of 47 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 7 months, walking at 15 months, babbling at 8 months, first word at 14 months with subsequent language regression. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test; patient also showed inattention, repetitive and poorly consistent language production and impaired social interaction suggestive of PDD-NOS. Skeletal abnormalities and chest wall deformities: kyphosis, early closure of fontanelle, pectus carinatum. EEG: poor organization, high amplitude, occasional sequences of slow activity, occasional generalized epileptiform discharges. Cardiac defects: patent foramen ovale. Ocular abnormalities: slight photophobia, ocular fundus, slightly pale optic disc. Additional features: episodes of tremor at birth, possibly due to hypocalcemia; intestinal subocclusion due to Mesenterium Commune; joint hyperlaxity, horseshoe kidney. Dysmorphic features: high nasal bridge, microcephaly, short philtrum, large posteriorly rotated ears, clinodactyly, long narrow face, hypospadias. Growth parameters: current weight 10th-25th %ile, current height 10th-25th %ile.
Severe intellectual disability; IQ score of 37 (LIPS-R); mainstream school education with support
N/A
N/A
1600000
NCBI36
Deletion
No
citta_13_ID/ASD_discovery_cases-patient4
14 yrs.
F
Intellectual disability (ID)
Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 76; externalizing, 66; total, 73. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 4.3; daily living skills, 2.6; socialization, <1.6; total, 2.8. Birth/neonatal history: delivery at pregnancy week 39; birth weight of 2.200 kg (<3rd %ile), birth length of 47 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 6 months, walking at 17 months, babbling at 9 months, first word at 12 months. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test; patient had psychotic outburst at age of 8 years; behavior characterized by withdrawal, irritability and oppositive behaviors, poor tolerance of frustration and anxiety, emotional dysregulation with rapid feelings change and non-contextual laughter, stereotyped behavior, immediate echolalia and repetitive and/or telegraphic, incongruent responses at time of evaluation. Skeletal abnormalities and chest wall deformities: none. EEG: normal (slight excess of fast components during sleep). Cardiac defects: none. Ocular abnormalities: yes (not specified). Additional features: slight cerebellar atrophy. Dysmorphic features: high nasal bridge, short philtrum, large posteriorly rotated ears. Growth parameters: current weight 75th %ile, current height 75th-90th %ile.
Severe intellectual disability; IQ score unable to be evaluated due to neuropsychiatric disorder (Raven Progressive Colored Matrices administered at age of 11 years showed IQ of 50); mainstream school education with support
196020985
197612399
1591415
GRCh38
Deletion
No
cobb_10_ASD_discovery_cases-case1
6.75 yrs.
M
ASD
Diagnosed with autism at 3.5 yrs (diagnosis criteria unknown). Diagnosed with ADHD predominantly inattentive type at 6 yrs. 11 mos. Speech delay. Developmental milestones: sat independently at 6.5 months; crawled at 10 months; first words at 15 months; evaluated for speech and pervasive developmental delay at ~3 yrs. Mild facial dysmorphisms: elongated face, down-slanting palpebral fissures, normally set but somewhat prominent ears, high nasal bridge with prominent tip, short but well-delineated philtrum. Ligamentous laxity. Very midly decreased general tone with notable hypermobility of fingers & hands. No gait ataxia. Digit clinodactyly (mild 5th finger bilaterally). Elongated fingers. Growth parameters: weight, 21.6 kg (45th %ile); height, 125 cm (85th %ile); head circumference, 50.5 cm (25th %ile). No family history of learning difficulties, birth defects, or mental retardation; siblings of case in good health with normal intelligence.
Low-average to average full-scale IQ scores. Stanford-Binet IQ scores (5 yrs.): full-scale IQ 87 (19th %ile, low average), nonverbal IQ 99 (47th%ile, average), verbal IQ 77 (6th %ile, borderline). Weschler Intelligence Scale IQ scores (6 yrs. 11 mos.): full-scale IQ 84 (14th %ile, low average). General Ability Index (GAI) 0f 94 (34th %ile, average). WRAT 4 scores (6 yrs. 11 mos.): math computation score of 80 (9th %ile, K4 grade level), word reading score of 118 (88th %ile, grade 2.8 level). Strengths noted in associative reasoning, vocabulary, spatial organization, individual word reading & sentence comprehension. Weaknesses noted in verbal formulation, working memory tasks, math computation & spelling. Initially startedin pre-school program for autistic children after ASD diagnosis, transitioned to public mainstream kindergarten at 5 yrs., currently in 1st grade with good-to-satisfactory performance in all academic areas.
196044872
197358752
1313881
GRCh38
Deletion
Yes
coe_14_ASD/DD/ID_discovery_cases-case632
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case633
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case634
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case635
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case636
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case637
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case638
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case639
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case640
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case641
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case642
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case643
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case644
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case645
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case646
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case647
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case648
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
195988732
197628732
1640001
GRCh38
Duplication
No
davis_09_ASD_discovery_cases-AU072004
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: fused ribs
196743818
196991485
247667
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU072005
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: fused ribs
196743818
196991485
247667
Unknown
Deletion
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).
195620156
195749118
128963
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299796
N/A
F
Developmental delay/intellectual disability
CNV was inherited from a parent affected with a similar or milder phenotype
193392064
194686656
1294593
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300605
N/A
F
Developmental delay/intellectual disability
196051094
197553580
1502487
GRCh38
Deletion
Yes
feliciano_19_ASD_discovery_cases-caseSP0049279
N/A
F
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
197044623
197066755
22133
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1087301
Autism
198679410
198828573
149164
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1087302
Autism
198679410
198828573
149164
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU056803
Autism
195847296
195981661
134366
Unknown
Duplication
No
gannon_11_ASD/DD_discovery_cases-patientD
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case667-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
192650008
192701164
51157
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si1
12
M
Autism
ADOS score: 8. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 120; Non-verbal IQ, 126.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si117
10
M
Autism
ADOS score: 9. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
195669236
195769501
100266
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si122
8
F
Autism
ADOS score: 6. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 122; Non-verbal IQ, 95.
195669236
195765787
96552
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si130
11
M
Autism
ADOS score: 6. Vineland composite score: 68.
Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 54; Non-verbal IQ, 74.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si133
12
F
Autism
ADOS score: 9. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 39; Non-verbal IQ, 59.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si140
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
195669236
195731060
61825
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si152
12
M
Autism
ADOS score: 9. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 94.
195669236
195789093
119858
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si153
10
M
Autism
ADOS score: 10. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 74; Non-verbal IQ, 103.
195669236
195719111
49876
GRCh38
Deletion
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.
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si170
18
M
Autism
ADOS score: NA. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 128; Non-verbal IQ, 97.
195669236
195766651
97416
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si174
9
M
Autism
ADOS score: 7. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
195669236
195719111
49876
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si178
7
M
Autism
ADOS score: 9. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 64; Non-verbal IQ, 67.
195669236
195769501
100266
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si182
9
M
Autism
ADOS score: 8. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si189
9
F
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 99; Non-verbal IQ, 119.
195669236
195731060
61825
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si192
7
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si217
10
M
Autism
ADOS score: 7. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 82; Non-verbal IQ, 90.
195669236
195719111
49876
GRCh38
Deletion
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.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si227
7
M
Autism
ADOS score: 8. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 38; Non-verbal IQ, 57.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si233
10
M
Autism
ADOS score: 7. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 85; Non-verbal IQ, 114.
195669236
195735986
66751
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si235
10
M
Autism
ADOS score: 9. Vineland composite score: 95.
No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 99; Non-verbal IQ, 119.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si243
12
M
Autism
ADOS score: 10. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 83; Non-verbal IQ, 96.
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si244
17
M
Autism
ADOS score: 9. Vineland composite score: 58.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si247
13
M
Autism
ADOS score: 6. Vineland composite score: 57.
No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 46; Non-verbal IQ, 93.
195669236
195753566
84331
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.
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si315
9
M
Autism
ADOS score: 10. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 97; Non-verbal IQ, 89.
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si34
10
M
Autism
ADOS score: 10. Vineland composite score: 74.
Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 63; Non-verbal IQ, 55.
195669236
195789093
119858
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si343
11
M
Autism
ADOS score: 8. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 72; Non-verbal IQ, 89.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si344
15
M
Autism
ADOS score: 6. Vineland composite score: 52.
Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 28; Non-verbal IQ, 33.
195669236
195719111
49876
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.
195669236
195719111
49876
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si40
16
M
Autism
ADOS score: 7. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 82; Non-verbal IQ, 77.
195669236
195732699
63464
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si48
11
M
Autism
ADOS score: 10. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si5
8
M
Autism
ADOS score: 8. Vineland composite score: 63.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 92; Non-verbal IQ, 81.
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si54
8
M
Autism
ADOS score: NA. Vineland composite score: NA
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si56
15
M
Autism
ADOS score: 7. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 106; Non-verbal IQ, 77.
195669236
195753566
84331
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si62
10
M
Autism
ADOS score: 8. Vineland composite score: 60.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 15; Non-verbal IQ, 49.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si69
6
M
Autism
ADOS score: 5. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 98; Verbal IQ, 95; Non-verbal IQ, 101.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si82
14
M
Autism
ADOS score: 4. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si83
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 41; Verbal IQ, 40; Non-verbal IQ, 41.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si88
7
F
Autism
ADOS score: 5. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 91; Non-verbal IQ, 94.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si93
14
M
Autism
ADOS score: 4. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 111; Non-verbal IQ, 114.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si94
14
M
Autism
ADOS score: 8. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 137; Verbal IQ, 106; Non-verbal IQ, 146.
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case1940
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1941
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1942
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1943
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1944
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1945
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1946
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1947
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1948
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1949
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1950
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1951
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1952
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1953
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1954
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1955
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1956
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1957
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1958
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1959
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1960
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1961
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1962
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1963
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1964
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1965
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1966
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1967
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1968
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1969
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1970
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1971
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1972
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1973
NA
NA
Developmental delay
NA
NA
196018732
197628732
1610001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case25870
NA
NA
Developmental delay
Dysmorphic features, seizure disorder, multiple congenital anomalies
Developmental delay
196018732
197628732
1610001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case33529
NA
NA
Cardiac defects
Aberrant subclavian artery
NA
196018732
197628732
1610001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case42267
NA
NA
Dysmorphic features
Dysmorphic features
NA
196018732
197628732
1610001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case67345
8 yrs.
M
Developmental delay
Mixed developmental disorder, microcephalus, failure to thrive. Speech delay, ADHD, some sensory issues. Normal tone. Dysmorphic features: bitemporal narrowing, thin nose, epicanthal folds, rotated ears, absent antitragus, small philtrum, high palate. Other features: hypothyroidism, rectal prolapsed. Growth parameters: weight 10th %ile, height 25th-50th %ile, OFC -2.7 SD. Family history: mother has mitral valve prolapse.
IQ 90
196018732
197628732
1610001
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13064.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
195581503
197731977
2150475
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13144.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
196811429
196843407
31979
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13746.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
197471446
197625714
154269
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14045.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
196551691
196556032
4342
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1087301
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
197471446
197625714
154269
GRCh38
Duplication
Yes
girirajan_13a_DD_discovery_cases-DDcase101
N/A
N/A
Developmental delay
N/A
N/A
195581503
197731977
2150475
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase102
N/A
N/A
Developmental delay
N/A
N/A
195581503
197731977
2150475
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase103
N/A
N/A
Developmental delay
N/A
N/A
195581503
197731977
2150475
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase104
N/A
N/A
Developmental delay
N/A
N/A
195581503
197731977
2150475
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase105
N/A
N/A
Developmental delay
N/A
N/A
195581503
197731977
2150475
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase106
N/A
N/A
Developmental delay
N/A
N/A
195581503
197731977
2150475
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-12210113025
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-13107107988
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195736875
67640
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-1709110692
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
195669236
195746085
76850
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
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21409111351
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
195669236
195731060
61825
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-24705103861
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195763652
94417
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-27008110148
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
195669236
195732699
63464
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-28208110205
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
195669236
195719111
49876
GRCh38
Duplication
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
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-29806106231
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-29905103852
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29909111597
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-31906106492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-34904101211
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-34905104010
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195731060
61825
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3508108947
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-38105103519
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
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
195669236
195746085
76850
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
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-4709110813
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-51206107184
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195746085
76850
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
195669236
195719111
49876
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
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-55704100868
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-5603100206
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195699052
195759381
60330
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-57105104492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195849961
195906118
56158
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-6208109266
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-62104102284
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
195669236
195719111
49876
GRCh38
Deletion
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
195669236
195719111
49876
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-8103100683
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-8405102790
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-8705102962
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9005102681
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9405102860
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9907107878
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
195669236
195766651
97416
GRCh38
Duplication
No
granerud_22_ASD_discovery_case-case1
23 yrs.
M
ASD
Motor and musculoskeletal evaluation: pectus excavatum, clinodactyly, kyphosis, gait abnormality. Behavioral/psychiatric evaluation: case diagnosed with autistic disorder (ICD-10 diagnosis F84.0) at 6 years of age with ADI and ADOS; no psychiatric comorbidities; problems with attention; significantly impaired adaptive behavior (-2.5 SD). Brain imaging: smaller intracranial volume and total cortical surface area relative to healthy controls and unaffected family members. EEG: larger visual evoked potential (VEP) C1 amplitude compared to family members with intact long-term potentiation (LTP)-like visual cortex plasticity. Additional medical history: chronic back pain. Dysmorphic features: light facial dysmorphism. Growth parameters: underweight.
Cognitive abilities in the lower normal range (-1.5 SD) with reduced processing speed (-2 SD), impaired executive functions (-3 SD) with reductions in cognitive flexibility (Trail Making Test 4, part of the Delis-Kaplan Executive Function System) and speed of mental processing (Color word 1-3; D-KEFS); required more training trials in equivalence class training compared with family members and exhibited impaired priming of words compared with priming of images.
196020984
197612458
1591475
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient18
20 yrs.
F
Intellectual disability
Neurodevelopmental abnormalities: intellectual disability. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
Intellectual disability
196233399
196615552
382154
GRCh38
Duplication
No
handrigan_13_ASD/DD/ID_discovery_cases-patient18
20 yrs.
F
Intellectual disability
Neurodevelopmental abnormalities: intellectual disability. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
Intellectual disability
194834085
195289201
455117
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case19D1220
5 mos. 15 days
F
Developmental delay
197279668
197629463
349796
GRCh38
Duplication
No
hu_22_ASD_discovery_cases-case11
NA
M
ASD
Case met criteria for ASD using DSM-5.
196468781
197297235
828455
GRCh38
Deletion
No
hu_22_ASD_discovery_cases-case21
NA
M
ASD
Case met criteria for ASD using DSM-5.
196049282
197573323
1524042
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000876
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196013486
197590232
1576747
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196013486
197503306
1489821
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001057
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196013486
197590232
1576747
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196077857
197165715
1087859
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
195972720
197658495
1685776
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002147
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196035777
197606438
1570662
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196035777
196189197
153421
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
197511726
197833102
321377
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002337
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
195917073
196336765
419693
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002366
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
195997494
197662231
1664738
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002773
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196035777
197658540
1622764
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003765
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
195965316
197625573
1660258
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003907
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196035777
197662231
1626455
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003934
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196280954
197590232
1309279
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004256
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196013486
197590232
1576747
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004313
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196035777
197625573
1589797
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004385
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
195755702
197583580
1827879
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004618
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
195711798
197976152
2264355
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004638
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196013486
197590232
1576747
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004747
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196077857
197693741
1615885
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004858
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196013486
197590232
1576747
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004887
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
195896948
198110178
2213231
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005045
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
193917490
198110319
4192830
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005073
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196013486
197590232
1576747
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005162
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
194424496
198168758
3744263
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1974
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
197744198
197838262
94065
Unknown
Duplication
No
kousoulidou_13_ASD_discovery_cases-patient11
N/A
M
ID and autistic features
Autistic features. Poor concentration. EEG: normal. Family history: affected father with autistic features.
Intellectual disability (mild), learning difficulties
196005085
197075850
1070766
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11079.p1
N/A
M
ASD
ASD proband from SSC quad family 11079. SRS score of 83.
Full-scale IQ (FSIQ) score of 53.
196051941
197546443
1494503
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11108.p1
N/A
M
ASD
ASD proband from SSC quad family 11108. SRS score of 75.
Full-scale IQ (FSIQ) score of 104.
197847408
197914042
66635
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case11336.p1
N/A
M
ASD
ASD proband from SSC quad family 11336. SRS score of 81.
Full-scale IQ (FSIQ) score of 123.
197826877
197829673
2797
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11079.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
196471818
197546443
1074626
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11079.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
196217841
196327590
109750
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11079.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
195895245
196075360
180116
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11108.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
197847408
197914042
66635
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11859.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
193255650
193263235
7586
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13901.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
197781810
197996282
214473
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14265.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
197960221
198003125
42905
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0434
14 yrs.
M
ASD, ADHD, epilepsy/seizures
Developmental milestones: motor delay. Motor and musculoskeletal evaluation: motor coordination deficits. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Family history: positive for epilepsy.
IQ > 70
195939900
197632041
1692142
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0094
30 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 15 years of age (core symptoms include auditory hallucinations, persecutory delusions). Physical comorbidities: asthma, atopic dermatitis. Brain imaging: frontal atrophy on brain MRI. EEG: abnormal EEG. Family history: negative.
IQ > 70
195990063
197617301
1627239
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0801
55 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 20 years of age (core symptoms include persecutory delusions, auditory hallucinations, negative symptoms). Brain imaging: punctate high intensity lesions in white matter and pituitary gland enlargement on brain MRI. Physical comorbidities: hyperlipidemia. Congenital and developmental phenotypes: low birth weight, patent ductus arteriosus, strabismus, cranial deformation. Family history: positive for Parkinson's disease and suicide.
IQ > 70
195990063
197617301
1627239
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2020
39 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 28 years of age (core symptoms include delusions, hallucinations). Family history: positive for schizophrenia (SCZ).
IQ > 70
196154147
197376501
1222355
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0434
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
195939899
197632041
1692143
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0094
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
195990062
197617301
1627240
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0801
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
195990062
197617301
1627240
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2020
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
196154146
197376501
1222356
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3717
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
195620640
197661520
2040881
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU1042303
N/A
N/A
ASD
196966129
197515129
549001
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-case016a
NA
M
Epilepsy + autistic features
Phenotype: s-CSWSS . Seizure Characteristics: Nocturnal. Autistic features: Yes. ADHD features: Yes. Other features: Global hemi-atrophy of the left hemisphere.
Initial cognitive development: Delayed. Cognitive regression: No. Verbal IQ 46, performance IQ 50 (at 13 years of age).
194367828
194409416
41589
GRCh38
Duplication
Yes
lesca_12_EP_discovery_cases-case7-1514
NA
M
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: Mycoclonic, atonic. Autistic features: No. ADHD features: No. Other features: None.
Initial cognitive development: Normal. Cognitive regression: No.
192495164
192634676
139513
GRCh38
Duplication
Yes
lesca_12_EP_discovery_cases-case7-1514
NA
M
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: Mycoclonic, atonic. Autistic features: No. ADHD features: No. Other features: None.
Initial cognitive development: Normal. Cognitive regression: No.
193152832
193667233
514402
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11079.p1
NA
M
ASD
NA
NA
195997095
197627154
1630060
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11108.p1
NA
M
ASD
NA
NA
197837092
197924839
87748
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case58
N/A
F
Intellectual disability
Dysmorphic features and congenital anomalies: frontal bossing, craniosynostosis.
Intellectual disability
195974314
197647014
1672701
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case186
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
196008043
197620100
1612058
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown155
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)
195192780
196629012
1436233
GRCh38
Duplication
No
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam10_P12
1 yr.
F
Developmental delay
Global developmental delay, neonatal hypotonia
196020985
197671942
1650958
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam10_P13
Adult
F
Developmental delay and learning disability
Developmental delay
Learning disabilities
196020985
197671942
1650958
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam11_P14
6 yrs.
F
ASD, developmental delay, and learning disability
Global developmental delay, autism spectrum disorder
Learning disabilities
196020985
197612458
1591474
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam11_P15
Adult
F
Learning disability
Major learning disabilities
196020985
197612458
1591474
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P16
13 yrs.
F
Developmental delay and intellectual disability
Global developmental delay
Mild intellectual disability
196020985
197612458
1591474
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P17
12 yrs.
M
Developmental delay and learning disability
Language delay
Learning disabilities
196020985
197612458
1591474
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P18
5 yrs.
F
Developmental delay
Mild global developmental delay
196020985
197612458
1591474
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P19
3 yrs.
F
Developmental delay
Mild global developmental delay, neonatal hypotonia
196020985
197612458
1591474
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P20
Adult
M
Developmental delay and learning disability
Developmental delay, anxiety
Learning disabilities
196020985
197612458
1591474
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam13_P21
16 yrs.
M
ADHD, developmental delay, and learning disability
Language delay, ADHD
Learning disabilities
196020985
197660387
1639403
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam14_P22
4 yrs.
M
CMA
External auditory canal agenesis and malleus hypoplasia, macrocephaly.
196181993
197583580
1401588
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam14_P23
Adult
F
No reported developmental delay, intellectual disability, learning disabilities, neuropsychiatric disorders, malformations, or other features.
196181993
197583580
1401588
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam15_P24
8 yrs.
M
Developmental delay and intellectual disability
Developmental delay, low frustration tolerance
Severe intellectual disability
195082588
198110178
3027591
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam16_P25
10 yrs.
F
ADHD and learning disability
ADHD, atrial septal defect
Learning disabilities
195108258
198110178
3001921
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam16_P26
Adult
F
Learning disability
Learning disabilities
195108258
198110178
3001921
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam17_P27
3 yrs.
F
CMA
Ventricular septal defect with deviation of the conal septum and bicuspid aortic valve
195699004
197881521
2182518
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam17_P28
27 yrs.
F
Learning disability
Learning disabilities
195699004
197881521
2182518
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam18_P29
35 yrs.
F
Developmental delay and intellectual disability
Global developmental delay, two seizures
Mild intellectual disability
195729616
197583580
1853965
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam19_P30
Adult
M
Learning disability
Learning disabilities
195838288
198118383
2280096
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam1_P1
14 yrs.
M
Developmental delay and intellectual disability
Mild global developmental delay, unspecified neuropsychiatric disorders, neonatal hypotonia, obesity.
Mild intellectual disability
195896748
197590373
1693626
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam20_P31
Adult
M
Developmental delay and learning disability
Developmental delay, aggressive behavior
Learning disabilities
196180431
198110178
1929748
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam21_P32
Fetus
M
CMA
Left heart hypoplasia, hypoplasia of the aortic arch, mitral and aortic dysplasia, ventricular septal defect, nephromegaly. Inheritance via balanced paternal translocation.
196280954
198110178
1829225
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam22_P33
1 yr.
M
CMA
Ventricular septal defect, neonatal hypotonia, bilateral pelvicalyceal dilatation. Inheritance via balanced paternal translocation.
196316064
198113468
1797405
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam23_P34
20 yrs.
F
ADHD, developmental delay, and intellectual disability
Developmental delay, ADHD, obesity
Mild intellectual disability
196913090
197134109
221020
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam24_P35
20 yrs.
F
Intellectual disability
Mild to moderate intellectual disability
197060490
197870393
809904
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam25_P36
Fetus
M
CMA
Cerebral malformation (major ventriculomegaly, interhemispheric cyst, not visualized corpus callosum, vermian and cerebellar hypotrophy)
197133850
197660528
526679
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam26_P37
1 mos.
F
Macrosomia, neonatal hyponia
197165656
197612458
446803
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam27_P38
14 yrs.
M
ASD and learning disability
Autism spectrum disorder
Learning disabilities
197296343
197597912
301570
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam27_P39
Adult
F
No reported developmental delay, intellectual disability, learning disabilities, neuropsychiatric disorders, malformations, or other features.
197296343
197597912
301570
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam2_P2
Fetus
M
Club feet, interuterine fetal death.
195918665
197612458
1693794
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam3_P3
16 yrs.
M
ADHD, developmental delay, and intellectual disability
Global developmental delay, ADHD.
Mild to moderate intellectual disability
195955711
197658495
1702785
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam3_P4
Adult
F
Developmental delay and learning disability
Developmental delay
Learning disabilities
195955711
197658495
1702785
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam4_P5
14 yrs.
M
ASD
Autism spectrum disorder, one epileptic seizure
196011535
197605279
1593745
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam5_P6
5 yrs.
M
Developmental delay and learning disability
Developmental delay, unilateral deafness, obesity.
Learning disabilities
196013486
197583580
1570095
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam6_P7
8 yrs.
F
Learning disability
Left stapes aplasia, deafness.
Learning disabilities
196013486
197583580
1570095
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam7_P8
24 yrs.
F
No reported developmental delay, intellectual disability, learning disabilities, neuropsychiatric disorders, malformations, or other features.
196013486
197590232
1576747
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam7_P9
Adult
M
Developmental delay and learning disability
Motor delay
Learning disabilities
196013486
197590232
1576747
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam8_P10
F
Epilepsy and learning disability
Epilepsy, obesity.
Learning disabilities
196013486
197597912
1584427
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam9_P11
3 yrs.
F
Developmental delay
Mild motor delay, atrial septal defect, prematurity (28 weeks gestation)
196020985
197612458
1591474
GRCh38
Duplication
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8986_2
N/A
N/A
Schizophrenia
N/A
N/A
196201397
197047485
846089
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam1315Proband433
4 yrs. 8 mos.
M
ASD
Developmental milestones: age of walking of 16 months, language delay. Epilepsy/seizures: none. Neurological examination: normal. Dysmorphic features: none. Growth parameters: height, weight, and head circumference within normal ranges.
No ID
196011535
197605279
1593745
GRCh38
Deletion
Yes
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
195693716
195717322
23607
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
N/A
M
ASD and ADHD
Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
TIQ score of 109
195692297
195729669
37373
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
N/A
M
Developmental delay
Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
Developmental delay (TIQ score of 54)
195692297
195745984
53688
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1260_10
NA
M
ASD
NA
NA
199052058
199402546
350489
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5065_3
NA
M
Autism
Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
Below average nonverbal IQ (<1%ile)
197219312
197527449
308138
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5542_3
NA
M
ASD
NA
NA
196499613
196835453
335841
Unknown
Deletion
Yes
pinto_14_ASD_discovery_cases2-case8588_201
N/A
M
ASD
Autism on ADI-R and ADOS, no language delay, hypotonia during childhood, sleep disorder, no epilepsy. Family history: father with socialization difficulties and rigidity; mother healthy; autistic traits in paternal uncle.
Average IQ (WISC-III at 14 y: VIQ 87, PIQ 78, FSIQ 81)
194769492
196464563
1695072
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI2755A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1172301; NDAR ID NDAR_INVKH996HE1)
197985794
198038669
52876
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3164A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0597302; NDAR ID NDAR_INVVY213RWC)
195725798
195749066
23269
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
197511893
197675517
163625
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0744A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU007504; NDAR ID NDAR_INVCU989WJU)
195523690
195579463
55774
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case122686L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
196502163
196822333
320171
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case123422L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
197276356
197978100
701745
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case126047
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
195668849
195739218
70370
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case138645L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
195847835
195869640
21806
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case76066
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
198909674
198937189
27516
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case91085L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
197537670
197561134
23465
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case99746
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
195717607
195753225
35619
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case99746
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
195019470
195065221
45752
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_109
13 yrs.
F
Developmental delay/intellectual disability
Patient originally reported in Quintela et al., 2015b (P1 in that report)
195963356
197629463
1666108
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_245
10 yrs.
M
Developmental delay/intellectual disability
Patient originally reported in Quintela et al., 2015b (P2 in that report)
195991874
197617305
1625432
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_354
12 yrs.
F
Intellectual disability
Hypotonia, difficulties in motor skills, social interaction problems. Incomplete parental clinical history.
Intellectual disability
196808979
197933168
1124190
GRCh38
Duplication
No
quintero-rivera_10_ASD_discovery_cases-patient1
10 yrs.
F
Autism
Diagnosis of autism at 5 yrs. Additional diagnosis of bipolar disorder with psychotic features at 10 yrs. Psychiatric symptoms: auditory hallucinations, anger rages, violence towards others. Developmental regression. Speech delay. Delayed walking. Age-appropriate fine motor skills, underdeveloped gross motor skills. Global Assessment of Functioning score: 30/100. Dysmorphic features: bilateral epicanthal folds, high nasal bridge, prominent metopic suture, micrognathia, asymmetrical face, brachy-dolicocpehaly, small mouth and chin with mandibular hypoplasia. Tapered fingers. Growth parameters: height, 139 cm (50-75th %ile); head circumference, 52.5 cm (50th %ile). Family history: father & paternal grandfather with a history of bipolar disorder, maternal cousin diagnosed with ADHD, aunt with anorexia, no psychiatric history in siblings.
Mental retardation
195982791
197611830
1629040
GRCh38
Deletion
Yes
quintero-rivera_10_ASD_discovery_cases-patient2
15 yrs.
M
Autism
Initial diagnosis of autism at 6 yrs confirmed at 9 yrs. Diagnosis of ADHD and failure to thrive at 7 yrs. Developed repetitive behaviors at 2 yrs. Behavioral and psychiatric features: self-injurious behaviors, anxiety, impulsiveness, nervousness, aggression sleep disturbances; behaviors treated with multiple medications. Delayed developmental milestones: walking and first words at 2 yrs., first sentences at 7 yrs. Delay in fine motor skills. Sensitivity to noises & touch. Hypotonia. Dystonic posturing. Scoliosis. Microcephaly. Dysmorphic features: left eye esotropia, ears with simple helices, dentition with poor enamel and mulitple cavities, facial asymmetry & droop, high nasal bridge, high-arched palate, long narrow face. Tapered fingers, slight finger camptodactyly, clinodactyly of toes, restricted flexion & extension of elbows. Abnormal skin pigmentation. Growth parameters: height, 171.4 cm (50-75th %ile); weight, 52 kg (25th %ile); head circumference, 53 cm (<5th %ile). Family history: no family history of autism or psychiatric disease.
Diagnosed with borderline mental retardation at 7 yrs. Wechsler Intelligence Test for Children (WISC-III) scores at 7 yrs.: full-scale IQ, 77; verbal, 74; performance IQ, 83. Leiter International Performance Scale-Revised score at 5 yrs.: full IQ, 72. Peabody Picture Vocabulary test at 14 yrs.: low-average range. Weakness in reading comprehension (2nd grade level).
195729073
197832022
2102950
GRCh38
Deletion
Yes
reinthaler_14_EP_discovery_cases-caseAVRE02
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
195733678
196369580
635903
GRCh38
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase9
8 yrs.
F
Learning disability (developmental delay/intellectual disability)
Dysmorphism
195963101
197631263
1668163
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case15066
NA
NA
ASD
NA
NA
198615692
199230435
614743
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case17184
NA
NA
ASD
NA
NA
194057893
196496805
2438912
Unknown
Deletion
Yes
sagar_13_ASD/ID_discovery_cases-case1
16 yrs.
M
Autism
Case was previousy described in Sanders et al. 2011 CNV report (sanders_11_ASD_discovery_cases-11079.p1). Diagnosis of autism based on meeting criteria on ADOS and ADI-R following enrollment in SSC study (case previoulsy diagnosed with PDD-NOS around age of 4 years). Birth/neonatal history: uncomplicated pregnancy; vaginal birth at gestational age of 40 weeks; birth weight 50th %ile, birth length 95th %ile; difficulties regulating temperature at birth; gastroesophageal reflux as infant; hypotonia and difficulty bearing weight at 6-9 months of age; abnormal movements of arms and legs; diagnosed with possible phenylketonuria and possible Tourette's syndrome. Language and communication evaluation: Peabody Picture Vocabulary Test 4 (PPVT4) administrated to assess receptive language (standard score of 87; mean 100, SD 15). Motor and musculoskeletal evaluation: choreoathetoid at age of 2 years; evaluation by pediatric neurologist at 2 years of age noted mild asymmetries on the right including abnormal gait, brisker reflexes on right, upgoing toe on right, tendency to circumduct right foot during gait testing, some delay of right compared to left sided smile. Behavioral/psychiatric evaluation: tics, obsessive compulsive behaviors, and stereotyped movements at 2 years of age; diagnosis of Sydenham chorea and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) considereed at around 4 years of age (due to worsening of abnormal movements and tics with pharyngitis); chicken pox at age of 5 years reported to have led to onset of childhood psychosis; history of psychotic symptoms included auditory and visual hallucinations. Other features: severity of movement disorder led to fractures of ulna and at least one toe before age of 5 years; severe presentation of antipsychotic withdrwaral dyskinesia noted on examination at age of 16 years (after many medication trials, treatment with loxapine led to improvement; exacerbation of symptoms at age of 16 years led to discontinuation of loxapine and subsequent withdrawal dyskinesia); Abnormal Involuntary Movements Scale (AIMS) score of 25 (max score of 40). Brain imaging: normal brain MRI (at age of 2 years). Dysmorphic features: dysmorphic pinnae, wide and high nasal bridge, pectus excavatum. Growth parameters: not reported. Family history: nonconsanguienous healthy parents; family history significant for bipolar disorder in maternal aunt.
Intellectual disability; full-scale IQ of 53 on Differential Abilities Scales (DAS) 2nd edition (mean 100, SD 15); overall adaptive behavior composite standard score of 64 on Vineland II (mean 100, SD 15).
196013531
197590232
1576702
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
197842688
197978058
135371
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11039.p1
6.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
195949805
197639761
1689957
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11099.p1
11.4
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
197838124
197921554
83431
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11114.p1
8.8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
197985888
198111391
125504
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
193418687
193422559
3873
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
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11167.p1
11
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11270.p1
6
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
198072067
198137592
65526
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11304.p1
5.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 61; verbal IQ, 47
196473866
196476395
2530
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
197823908
197829263
5356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11375.p1
6.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11376.p1
7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11412.p1
8.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85
193418687
193430105
11419
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
198078659
198129562
50904
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11463.p1
7.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11465.p1
11.4
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 73; verbal IQ, 95
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11468.p1
10.7
M
Aspergers
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
193418687
193422559
3873
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
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11509.p1
16.8
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
193617202
193651674
34473
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11550.p1
8.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11677.p1
7.9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11721.p1
4.8
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
198067034
198137592
70559
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
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12006.p1
15.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 104; verbal IQ, 50
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12014.p1
6.3
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12060.p1
8.5
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
197390615
197391716
1102
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12343.p1
6.2
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12359.p1
9.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12460.p1
9.4
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
197006634
197012082
5449
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12469.p1
10.7
M
Aspergers
NA
Full-scale IQ, 125; non-verbal IQ, 105; verbal IQ, 151
193418687
193422559
3873
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
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12591.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12595.p1
4
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 122; verbal IQ, 108
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12598.p1
17.4
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
193418687
193422559
3873
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
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
197985888
198137592
151705
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13010.p1
7.9
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
193418687
193426029
7343
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
194793379
195152900
359522
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13083.p1
7.5
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13120.p1
8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
198084813
198111391
26579
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
193418687
193422559
3873
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT232
NA
NA
ASD and developmental delay
Case met DSM-5 diagnostic criteria for ASD. Case also presented with hypotonia, psychomotor delay, and myoclonus.
195970139
197608726
1638588
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
195627053
195748896
121844
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
193153822
193166667
12846
GRCh38
Duplication
No
schaefer_10_ASD_discovery_cases-case2
NA
M
Autism
Complex (syndromic) autism. Behavior problems. Pectus excavatum, aberrant hair whorl, widow's peak.
Mental retardation
NA
NA
NA
Unknown
Deletion
Yes
shen_10_ASD_discovery_cases-ASD-09-037
NA
M
ASD
NA
NA
197158988
197612458
453471
GRCh38
Duplication
No
speevak_11_DD_discovery_cases-case1
4.5 yrs.
M
Developmental delay/speech delay
Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
195674866
195711828
36963
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
196010442
197207330
1196889
GRCh38
Deletion
No
tuncay_22_ASD_discovery_cases-caseMC-17-3
NA
M
ASD, developmental delay, intellectual disability, and seizures
Diagnosis of ASD at 3.5 years. Developmental milestones: developmental delay. Language and communication evaluation: speech impairment (phonetic, non-verbal). Epilepsy/seizures: seizures. Family history: born to unaffected non-consanguineous parents of South Asian ancestry.
Intellectual disability, learning disabilities
195997096
197617884
1620789
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)
195627053
195748896
121844
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Zas8751
21
M
SCZ
Age of onset: 12.
196584423
196781581
197159
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Zas8756
56
M
SCZ
Age of onset: 23. Dementia diagnosis.
196584423
196781581
197159
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case4
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
192599518
198235559
5636042
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case159
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
194514724
194517661
2938
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case160
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
195826388
195974280
147893
GRCh38
Duplication
No
yuan_23_ASD_discovery_cases-qma01703s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
196026934
197546695
1519762
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case2-1702-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: allergies; anxiety; asthma; sensory problems; low tone - hand and extremities, odd gait; broken clavical during delivery, jaundice; astigmatism in one eye, Raynaud's phenomenon; aortic bicuspid valve with slight regigitation; heart murmur
195747129
197455129
1708001
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0738-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
197288783
197629463
340681
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case11-0025-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
196788286
196825276
36991
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case11-0029-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
196794253
196825276
31024
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1702-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
194853119
197449645
2596527
GRCh38
Deletion
Yes
zhang_23_ASD/DD/ID_discovery_cases-caseASD0222
3 yrs.
F
ASD, developmental delay, and intellectual disability
Case clincially diagnosed with ASD according to DSM-V criteria. Additional clinical features: langauge delay, motor retardation.
Mild intellectual disability
196013130
198235559
2222430
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
coe_14_ASD/DD/ID_discovery_controls-control70
N/A
N/A
Control
N/A
N/A
195988732
197628732
1640001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control71
N/A
N/A
Control
N/A
N/A
195988732
197628732
1640001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-10208109404
N/A
N/A
Control
Ethnicity: Asian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11406105845
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11510113081
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195699052
195763652
64601
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12508109518
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195731060
61825
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-14710112915
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195765609
96374
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-20308109922
N/A
N/A
Control
Ethnicity: Hispanic
N/A
195700099
195769501
69403
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-23107108218
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-25204100801
N/A
N/A
Control
Ethnicity: Caucasian
N/A
196928822
196988730
59909
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-2608108900
N/A
N/A
Control
Ethnicity: Hispanic
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-26405103148
N/A
N/A
Control
Ethnicity: Hispanic
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-28706106413
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195732699
195790002
57304
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-30109111610
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195732699
63464
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-31207108545
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195731060
61825
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-31407108557
N/A
N/A
Control
Ethnicity: Hispanic
N/A
195669236
195719111
49876
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-33409111730
N/A
N/A
Control
Ethnicity: Hispanic
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-34306106585
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195699052
195763652
64601
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-37209111863
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-38206106769
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-38308110558
N/A
N/A
Control
Ethnicity: Hispanic
N/A
195669236
195789093
119858
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-38606106778
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195735986
66751
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-39306106798
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-40005104405
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
195669236
195738276
69041
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-43206106894
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-45304101644
N/A
N/A
Control
Ethnicity: African American
N/A
195669236
195731060
61825
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-46006106980
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195731060
61825
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-48906107104
N/A
N/A
Control
Ethnicity: Hispanic
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-4906105609
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-54206107480
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
195700099
195769501
69403
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-54305104360
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-54606107478
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-55105104410
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195731060
61825
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-6007107751
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-606105484
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-6106105636
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-6608109280
N/A
N/A
Control
Ethnicity: Hispanic
N/A
197599185
198219657
620473
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-66404102339
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
195669236
195746085
76850
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-6808109293
N/A
N/A
Control
Ethnicity: Hispanic
N/A
195700099
195790002
89904
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-9409110993
N/A
N/A
Control
Ethnicity: Caucasian
N/A
195669236
195719111
49876
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0065
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
196029183
197617794
1588612
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1158
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
197806662
197817520
10859
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1391
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
197744198
197838262
94065
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1494
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
197806662
197838262
31601
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1525
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
197744198
197838262
94065
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1689
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
196167930
196170061
2132
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split2081
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
197811684
197838262
26579
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11336.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11336. SRS score of 45.
197826877
197829673
2797
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13169.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13169. SRS score of 40.
197511894
197533561
21668
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13169.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13169. SRS score of 40.
195226708
195726572
499865
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11158.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
196730991
196828405
97415
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11208.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
195579338
195757328
177991
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11365.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
197514263
197546443
32181
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11488.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
195069714
195156581
86868
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12274.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
194623223
194633215
9993
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13169.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
197297185
197546443
249259
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13169.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
195226708
195729739
503032
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13287.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
197912674
197974474
61801
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13854.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
197999265
198077588
78324
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13901.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
197781810
197996282
214473
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14197.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
195729643
195778457
48815
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11365.s1
NA
F
Control
NA
NA
197349650
197575833
226184
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11488.s1
NA
M
Control
NA
NA
194960667
195165147
204481
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C27077A
N/A
M
Control
NIMH Control (NIMH ID 74430)
197136540
197546445
409906
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C27077A
N/A
M
Control
NIMH Control (NIMH ID 74430)
195516894
195579463
62570
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39645A
N/A
F
Control
NIMH Control (NIMH ID 69540)
195872274
195888608
16335
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11038.s1
6.5
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11099.s1
14.5
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
198008009
198014865
6857
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11307.s1
13.1
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11310.s1
9.5
F
Control (matched sibling)
NA
NA
193416970
193422559
5590
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11339.s1
11.2
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
197348850
197573881
225032
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11375.s1
4.6
F
Control (matched sibling)
NA
NA
193418687
193430105
11419
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11376.s1
23.8
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11412.s1
10.5
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11488.s1
7.7
M
Control (matched sibling)
NA
NA
194968684
195156783
188100
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11526.s1
7.9
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11542.s1
14.6
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11550.s1
6.6
F
Control (matched sibling)
NA
NA
193418687
193426029
7343
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11667.s1
8.3
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11793.s1
11.1
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11939.s1
12.4
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
195196302
195200528
4227
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12014.s1
4.3
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12359.s1
6.3
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12441.s1
10.6
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12561.s1
7.8
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12581.s1
15.7
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
192881547
192891927
10381
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12648.s1
11.3
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12788.s1
11.1
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13005.s1
6.8
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13010.s1
5.8
M
Control (matched sibling)
NA
NA
193418687
193426029
7343
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
197336437
197620100
283664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
198084813
198137592
52780
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
192881547
192891927
10381
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13322.s1
14.3
F
Control (matched sibling)
NA
NA
193418687
193422559
3873
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family42_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
195866951
195878463
11513
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
N/A
N/A
Control
Control is from a dizygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
195866951
195894836
27886
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case190
Unknown
RNU7-18P,TFRC
annunziata_21_ASD_discovery_cases-caseIB254
qPCR, FISH
Paternal
LINC00885,RNU7-18P,TFRC
bauleo_23_ASD/DD/ID_discovery_cases-caseII-2
RT-PCR
Maternal
Multiplex
Not segregated
BDH1,DLG1,LINC02012,DLG1-AS1,MIR4797
bauleo_23_ASD/DD/ID_discovery_cases-caseII-3
RT-PCR
Maternal
Multiplex
Not segregated
BDH1,DLG1,LINC02012,DLG1-AS1,MIR4797
biamino_15_ASD/ID_discovery_cases-probandIV-2
Real-time qPCR
Maternal
Maternal
Multi-generational
Segregated
ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC02026
brandler_18_ASD_replication_cases-case2-1207-003
No validation step reported
Maternal
RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,ACAP2,MUC20-OT1
chaves_19_ASD/DD/ID_discovery_cases-case332
Unknown
RNU1-20P,VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,PLAAT1,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,FGF12,MB21D2,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,LINC02026,DLG1
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1844
Nimblegen aCGH
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
citta_13_ID/ASD_discovery_cases-patient1
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
citta_13_ID/ASD_discovery_cases-patient2
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
citta_13_ID/ASD_discovery_cases-patient3
Unknown
Unknown
Unknown
Estimated gene content: TFRC,ZDHHC19,SLC51A,PCYT1A,TCTEX1D2,TM4SF19,UBXN7,RNF168,C3orf43,WDR53,FBXO45,NRROS,CEP19,PIGX,PAK2,SENP5,NCBP2,PIGZ,MFI2,DLG1,BDH1
citta_13_ID/ASD_discovery_cases-patient4
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
cobb_10_ASD_discovery_cases-case1
FISH
De novo
Simplex
NA
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case632
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case633
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case634
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case635
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case636
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case637
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case638
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case639
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case640
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case641
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case642
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case643
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case644
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case645
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case646
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case647
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_cases-case648
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
davis_09_ASD_discovery_cases-AU072004
Unknown
Unknown
Unknown
MUC4, MUC20, PPP1R2
davis_09_ASD_discovery_cases-AU072005
Unknown
Unknown
Unknown
MUC4, MUC20, PPP1R2
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
MUC20P1,MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
digregorio_17_DD/ID_discovery_cases-DECIPHER_299796
qPCR
Maternal
Maternal
Multi-generational
ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC02026
digregorio_17_DD/ID_discovery_cases-DECIPHER_300605
qPCR
De novo
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
feliciano_19_ASD_discovery_cases-caseSP0049279
Paternal
DLG1
null
gai_11_ASD_discovery_cases-AU1087301
Inherited
BDH1, LOC220729
gai_11_ASD_discovery_cases-AU1087302
Inherited
BDH1, LOC220729
gai_11_ASD_replication_cases-AU056803
Inherited
LSG1, FAM43A
gannon_11_ASD/DD_discovery_cases-patientD
Unknown
Unknown
NA
gazzellone_14_ASD_discovery_cases-case667-3
Unknown
Unknown
Unknown
FGF12
girirajan_11_ASD_discovery_cases-Si1
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si117
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si122
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si130
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si133
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si140
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si152
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si153
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si155
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si170
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si174
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si178
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si182
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si189
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si192
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si217
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si226
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si227
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si233
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si235
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si243
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si244
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si247
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si3
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si315
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si34
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si343
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si344
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si37
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si40
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si48
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si5
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si54
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si56
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si62
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si69
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si82
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si83
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si88
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si93
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_11_ASD_discovery_cases-Si94
Unknown
Simplex
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_12_ASD/DD/ID_discovery_cases-case1940
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1941
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1942
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1943
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1944
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1945
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1946
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1947
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1948
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1949
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1950
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1951
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1952
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1953
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1954
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1955
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1956
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1957
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1958
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1959
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1960
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1961
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1962
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1963
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1964
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1965
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1966
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1967
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1968
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1969
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1970
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1971
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1972
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case1973
NA
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case25870
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case33529
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case42267
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_12_ASD/DD/ID_discovery_cases-case67345
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_13a_ASD_discovery_cases-13064.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_13a_ASD_discovery_cases-13144.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
PAK2
girirajan_13a_ASD_discovery_cases-13746.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
LINC02012,BDH1
girirajan_13a_ASD_discovery_cases-14045.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
WDR53
girirajan_13a_ASD_discovery_cases-AU1087301
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
LINC02012,BDH1
girirajan_13a_DD_discovery_cases-DDcase101
Unknown
MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_13a_DD_discovery_cases-DDcase102
Unknown
MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_13a_DD_discovery_cases-DDcase103
Unknown
MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_13a_DD_discovery_cases-DDcase104
Unknown
MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_13a_DD_discovery_cases-DDcase105
Unknown
MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_13a_DD_discovery_cases-DDcase106
Unknown
MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_13b_ASD_discovery_cases-12210113025
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-13107107988
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-1709110692
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-20604100546
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-21409111351
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-24705103861
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_cases-27008110148
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-28208110205
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-28506106267
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-29806106231
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-29905103852
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-29909111597
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-31906106492
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-34904101211
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-34905104010
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-3508108947
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-38105103519
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-40406106815
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-46805104136
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-4709110813
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-51206107184
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-51604101884
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-52904101932
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-55704100868
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-5603100206
Unknown
Unknown
Unknown
MIR570,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_cases-57105104492
Unknown
Unknown
Unknown
MIR6829,LINC01983,TNK2
girirajan_13b_ASD_discovery_cases-6208109266
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-62104102284
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-708108819
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-8103100683
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-8405102790
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-8705102962
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-9005102681
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_cases-9405102860
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_cases-9907107878
Unknown
Unknown
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
granerud_22_ASD_discovery_case-case1
De novo
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
handrigan_13_ASD/DD/ID_discovery_cases-patient18
Unknown
Unknown
Unknown
TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,SLC51A,PCYT1A,RNF168
handrigan_13_ASD/DD/ID_discovery_cases-patient18
Unknown
Unknown
Unknown
XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,XXYLT1-AS2,ACAP2-IT1,XXYLT1,ACAP2
han_22_ASD/DD/ID_discovery_cases-case19D1220
Unknown
BDH1,DLG1,LINC02012,DLG1-AS1,MIR4797
hu_22_ASD_discovery_cases-case11
Unknown
DLG1,PIGX,PIGZ,CEP19,NCBP2AS2,RNF168,SENP5,FBXO45,SMCO1,WDR53,NRROS,RPS29P3,PAK2,MELTF,RNU6-42P,MELTF-AS1,MIR4797,NCBP2-AS1,RPSAP69,LINC01063,RNU6-646P,RNU4-89P,NCBP2
hu_22_ASD_discovery_cases-case21
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000876
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001057
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002147
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU7-18P,TFRC,LINC00885
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR922,RUBCN,FYTTD1,LRCH3,BDH1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002337
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU2-11P,RNU7-18P,TM4SF19-AS1,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,SLC51A,PCYT1A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002366
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002773
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003765
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003907
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003934
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004256
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004313
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004385
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004618
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004638
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004747
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004858
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004887
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005045
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,LINC02026,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005073
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005162
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,DLG1,FAM157A
kanduri_15_ASD_discovery_cases-case1974
Paternal
Unknown
Unknown
LMLN
kousoulidou_13_ASD_discovery_cases-patient11
qPCR
Paternal
Paternal
Unknown
Possibly segregated (deletion inherited from father with autistic features)
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
krumm_13_ASD_discovery_cases-case11079.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
krumm_13_ASD_discovery_cases-case11108.p1
Maternal
Simplex
Segregated
RNU6-858P,LRCH3,IQCG
krumm_13_ASD_discovery_cases-case11336.p1
Maternal
Simplex
Not segregated
LRCH3
krumm_15_ASD_discovery_cases-case11079.p1
Illumina 1M
De novo
Simplex
Segregated
RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
krumm_15_ASD_discovery_cases-case11079.p1
Illumina 1M
De novo
Simplex
Segregated
TM4SF19-AS1,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,SLC51A,PCYT1A
krumm_15_ASD_discovery_cases-case11079.p1
Illumina 1M
De novo
Simplex
Segregated
TNK2-AS1,RNU2-11P,RNU7-18P,TNK2,SDHAP1,TFRC
krumm_15_ASD_discovery_cases-case11108.p1
Illumina 1M
Maternal
Simplex
Segregated
RNU6-858P,LRCH3,IQCG
krumm_15_ASD_discovery_cases-case11859.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
HRASLS
krumm_15_ASD_discovery_cases-case13901.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RNU6-858P,RNU6-621P,FYTTD1,LRCH3,RPL35A,LMLN,IQCG
krumm_15_ASD_discovery_cases-case14265.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RNU6-621P,LMLN
kushima_18_ASD_discovery_cases-caseASD0434
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
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kushima_18_SCZ_discovery_cases-caseSCZ0094
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
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kushima_18_SCZ_discovery_cases-caseSCZ0801
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
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kushima_18_SCZ_discovery_cases-caseSCZ2020
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
TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
kushima_22_ASD_discovery_cases-caseASD0434
qRT-PCR
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
kushima_22_SCZ_discovery_cases-caseSCZ0094
qRT-PCR
De novo
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
kushima_22_SCZ_discovery_cases-caseSCZ0801
qRT-PCR
De novo
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
kushima_22_SCZ_discovery_cases-caseSCZ2020
qRT-PCR
Unknown
DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,PAK2,MELTF,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
kushima_22_SCZ_discovery_cases-caseSCZ3717
qRT-PCR
De novo
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,MUC20,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,SDHAP2,MIR570,TNK2-AS1,LINC02012,PAK2,MUC4,MELTF,RNU7-18P,RNU6-42P,KIF3AP1,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,LINC01983,MIR6829,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU2-11P,RNU6-910P,SMBD1P,MUC20-OT1,TNK2,NCBP2,UBXN7
leppa_16_ASD_discovery_cases-AU1042303
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
MIR4797,DLG1-AS1,LINC02012,PIGZ,RPSAP69,MELTF,MELTF-AS1,BDH1,DLG1
lesca_12_EP_discovery_cases-case016a
qPCR
Maternal
Unknown
Unknown
LRRC15,GP5,ATP13A3
lesca_12_EP_discovery_cases-case7-1514
qPCR
Maternal
Unknown
Unknown
FGF12-AS2,FGF12-AS3,FGF12
lesca_12_EP_discovery_cases-case7-1514
qPCR
Maternal
Unknown
Unknown
VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,HRASLS,OPA1-AS1,ATP13A5,ATP13A4,OPA1
levy_11_ASD_discovery_cases-11079.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
levy_11_ASD_discovery_cases-11108.p1
Maternal
Simplex
Segregated
RNU6-858P,LRCH3,IQCG
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case58
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
mahjani_21_ASD_discovery_cases-case186
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,SLC51A,SENP5,FBXO45,RNF168,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,MELTF,PAK2,RNU7-18P,RNU6-42P,TM4SF19-DYNLT2B,MIR4797,MELTF-AS1,DLG1-AS1,UBXN7-AS1,NCBP2-AS1,TM4SF19-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RNU4-89P,RNU6-646P,RN7SL434P,RN7SL738P,RNU6-1279P,RNU6-910P,UBXN7,NCBP2
maini_18_ASD/DD/ID_discovery_cases-case_unknown155
De novo
Unknown
Unknown
RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam10_P12
qPCR, FISH, or qMPSF
Maternal
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,RUBCN,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam10_P13
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,RUBCN,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam11_P14
qPCR, FISH, or qMPSF
Maternal
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam11_P15
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P16
qPCR, FISH, or qMPSF
Paternal
Multiplex
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P17
qPCR, FISH, or qMPSF
Paternal
Multiplex
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P18
qPCR, FISH, or qMPSF
Paternal
Multiplex
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P19
qPCR, FISH, or qMPSF
Paternal
Multiplex
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam12_P20
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam13_P21
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam14_P22
qPCR, FISH, or qMPSF
Maternal
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,RPS29P3,LINC02012,PAK2,MELTF,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam14_P23
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,RPS29P3,LINC02012,PAK2,MELTF,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam15_P24
qPCR, FISH, or qMPSF
Unknown
APOD,BDH1,DLG1,PIGX,IQCG,PIGZ,FYTTD1,LMLN,LRCH3,CEP19,ZDHHC19,TM4SF19,XXYLT1,NCBP2AS2,RNF168,SENP5,SLC51A,MUC20,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,ANKRD18DP,NRROS,LINC00885,RPS29P3,SDHAP2,MIR570,MUC20P1,MIR922,TNK2-AS1,FRG2FP,LINC02012,PAK2,MUC4,MELTF,RNU7-18P,RNU6-42P,KIF3AP1,MIR3137,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,LMLN-AS1,XXYLT1-AS1,ACAP2-IT1,RPSAP69,XXYLT1-AS2,RPL35A,PPP1R2,PCYT1A,LINC01063,LINC01983,MIR6829,RN7SL36P,RN7SL73P,TFRC,RNU6-858P,RNU6ATAC24P,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-25P,RNU6-1279P,RN7SL738P,RNU6-821P,RNU2-11P,RNU6-621P,RNU6-910P,SMBD1P,MUC20-OT1,TNK2,RUBCN,NCBP2,UBXN7,ACAP2
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam16_P25
qPCR, FISH, or qMPSF
Maternal
APOD,BDH1,DLG1,PIGX,IQCG,PIGZ,FYTTD1,LMLN,LRCH3,CEP19,ZDHHC19,TM4SF19,XXYLT1,NCBP2AS2,RNF168,SENP5,SLC51A,MUC20,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,ANKRD18DP,NRROS,LINC00885,RPS29P3,SDHAP2,MIR570,MUC20P1,MIR922,TNK2-AS1,FRG2FP,LINC02012,PAK2,MUC4,MELTF,RNU7-18P,RNU6-42P,KIF3AP1,MIR3137,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,LMLN-AS1,ACAP2-IT1,RPSAP69,XXYLT1-AS2,RPL35A,PPP1R2,PCYT1A,LINC01063,LINC01983,MIR6829,RN7SL36P,RN7SL73P,TFRC,RNU6-858P,RNU6ATAC24P,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-25P,RNU6-1279P,RN7SL738P,RNU6-821P,RNU2-11P,RNU6-621P,RNU6-910P,SMBD1P,MUC20-OT1,TNK2,RUBCN,NCBP2,UBXN7,ACAP2
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam16_P26
qPCR, FISH, or qMPSF
Unknown
APOD,BDH1,DLG1,PIGX,IQCG,PIGZ,FYTTD1,LMLN,LRCH3,CEP19,ZDHHC19,TM4SF19,XXYLT1,NCBP2AS2,RNF168,SENP5,SLC51A,MUC20,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,ANKRD18DP,NRROS,LINC00885,RPS29P3,SDHAP2,MIR570,MUC20P1,MIR922,TNK2-AS1,FRG2FP,LINC02012,PAK2,MUC4,MELTF,RNU7-18P,RNU6-42P,KIF3AP1,MIR3137,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,LMLN-AS1,ACAP2-IT1,RPSAP69,XXYLT1-AS2,RPL35A,PPP1R2,PCYT1A,LINC01063,LINC01983,MIR6829,RN7SL36P,RN7SL73P,TFRC,RNU6-858P,RNU6ATAC24P,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-25P,RNU6-1279P,RN7SL738P,RNU6-821P,RNU2-11P,RNU6-621P,RNU6-910P,SMBD1P,MUC20-OT1,TNK2,RUBCN,NCBP2,UBXN7,ACAP2
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam17_P27
qPCR, FISH, or qMPSF
Maternal
BDH1,DLG1,PIGX,PIGZ,FYTTD1,LRCH3,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,MUC20,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,MIR570,MIR922,TNK2-AS1,LINC02012,PAK2,MUC4,MELTF,RNU7-18P,RNU6-42P,KIF3AP1,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,LINC01983,MIR6829,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU2-11P,RNU6-910P,SMBD1P,MUC20-OT1,TNK2,RUBCN,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam17_P28
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,FYTTD1,LRCH3,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,MUC20,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,MIR570,MIR922,TNK2-AS1,LINC02012,PAK2,MUC4,MELTF,RNU7-18P,RNU6-42P,KIF3AP1,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,LINC01983,MIR6829,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU2-11P,RNU6-910P,SMBD1P,MUC20-OT1,TNK2,RUBCN,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam18_P29
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,MUC20,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,TNK2-AS1,LINC02012,PAK2,MUC4,MELTF,RNU7-18P,RNU6-42P,KIF3AP1,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,LINC01983,MIR6829,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU2-11P,RNU6-910P,MUC20-OT1,TNK2,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam19_P30
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,IQCG,PIGZ,FYTTD1,LMLN,LRCH3,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,ANKRD18DP,NRROS,LINC00885,RPS29P3,MIR922,TNK2-AS1,FRG2FP,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,KIF3AP1,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,LMLN-AS1,RPSAP69,RPL35A,PCYT1A,LINC01063,LINC01983,MIR6829,TFRC,RNU6-858P,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-821P,RNU2-11P,RNU6-621P,RNU6-910P,TNK2,RUBCN,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam1_P1
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,TNK2-AS1,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU2-11P,RNU6-910P,TNK2,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam20_P31
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,IQCG,PIGZ,FYTTD1,LMLN,LRCH3,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,ANKRD18DP,NRROS,RPS29P3,MIR922,FRG2FP,LINC02012,PAK2,MELTF,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,LMLN-AS1,RPSAP69,RPL35A,PCYT1A,LINC01063,RNU6-858P,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-821P,RNU6-621P,RNU6-910P,RUBCN,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam21_P32
qPCR, FISH, or qMPSF
Paternal
BDH1,DLG1,PIGX,IQCG,PIGZ,FYTTD1,LMLN,LRCH3,CEP19,TM4SF19,NCBP2AS2,RNF168,SENP5,FBXO45,SMCO1,DYNLT2B,WDR53,ANKRD18DP,NRROS,RPS29P3,MIR922,FRG2FP,LINC02012,PAK2,MELTF,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,LMLN-AS1,RPSAP69,RPL35A,PCYT1A,LINC01063,RNU6-858P,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-821P,RNU6-621P,RNU6-910P,RUBCN,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam22_P33
qPCR, FISH, or qMPSF
Paternal
BDH1,DLG1,PIGX,IQCG,PIGZ,FYTTD1,LMLN,LRCH3,CEP19,TM4SF19,NCBP2AS2,RNF168,SENP5,FBXO45,SMCO1,DYNLT2B,WDR53,ANKRD18DP,NRROS,RPS29P3,MIR922,FRG2FP,LINC02012,PAK2,MELTF,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,LMLN-AS1,RPSAP69,RPL35A,LINC01063,RNU6-858P,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-821P,RNU6-621P,RNU6-910P,RUBCN,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam23_P34
qPCR, FISH, or qMPSF
Unknown
DLG1,PIGZ,NCBP2AS2,SENP5,MELTF,MELTF-AS1,NCBP2-AS1,RPSAP69,NCBP2
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam24_P35
qPCR, FISH, or qMPSF
Paternal
BDH1,DLG1,FYTTD1,LRCH3,MIR922,LINC02012,DLG1-AS1,MIR4797,RUBCN
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam25_P36
qPCR, FISH, or qMPSF
Maternal
BDH1,DLG1,LINC02012,DLG1-AS1,MIR4797
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam26_P37
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,LINC02012,DLG1-AS1,MIR4797
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam27_P38
qPCR, FISH, or qMPSF
Maternal
BDH1,DLG1,LINC02012,DLG1-AS1
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam27_P39
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,LINC02012,DLG1-AS1
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam2_P2
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU2-11P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam3_P3
qPCR, FISH, or qMPSF
Maternal
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam3_P4
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam4_P5
qPCR, FISH, or qMPSF
De novo
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam5_P6
qPCR, FISH, or qMPSF
Maternal
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam6_P7
qPCR, FISH, or qMPSF
De novo
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam7_P8
qPCR, FISH, or qMPSF
Paternal
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam7_P9
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam8_P10
qPCR, FISH, or qMPSF
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam9_P11
qPCR, FISH, or qMPSF
De novo
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
mulle_13_SCZ_discovery_cases_1-caseAJ_8986_2
qPCR
De novo
Unknown
Unknown
TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
nava_13_ASD_discovery_cases-Fam1315Proband433
FISH
De novo
Simplex
Likely segregated
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
Unknown
Multi-generational
Unknown
MIR570,SMBD1P,MUC20-OT1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
Maternal
Multi-generational
Unknown
MIR570,SMBD1P,MUC20,MUC20-OT1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
Maternal
Multi-generational
Unknown
MIR570,SMBD1P,MUC20,MUC20-OT1
pinto_10_ASD_discovery_cases-case1260_10
Illumina550
Unknown
NA
NA
LMLN,IQCG,RPL35A,LOC348840,LRCH3
pinto_10_ASD_discovery_cases-case5065_3
Agilent1M
maternal
Multiplex
Unknown
PCYT1A,TCTEX1D2,TFRC,ZDHHC19,OSTalpha
pinto_10_ASD_discovery_cases-case5542_3
Agilent1M
maternal
NA
NA
APOD,ACAP2,PPP1R2
pinto_14_ASD_discovery_cases2-case8588_201
qPCR
Possibly paternal
De novo
Unknown
Unknown (no siblings)
XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A
poultney_13_ASD_discovery_cases-case04HI2755A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-621P,LMLN-AS1,LMLN
poultney_13_ASD_discovery_cases-case04HI3164A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MUC20,MUC4,MUC20-OT1
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR922,RUBCN,BDH1
poultney_13_ASD_discovery_cases-case99HI0744A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SL73P,PPP1R2,APOD
prasad_12_ASD_discovery_cases-case122686L
Unknown
Unknown
Unknown
APOD,ACAP2,PPP1R2
prasad_12_ASD_discovery_cases-case123422L
Unknown
Unknown
Unknown
PCYT1A,FBXO45,LRRC33,WDR53,CEP19,TM4SF19-TCTEX1D2,RNF168,ZDHHC19,OSTalpha,PIGX,TFRC,C3orf43,TM4SF19,LOC401109,TCTEX1D2,UBXN7,PAK2
prasad_12_ASD_discovery_cases-case126047
Unknown
Unknown
Unknown
ATP13A3,FLJ34208
prasad_12_ASD_discovery_cases-case138645L
Unknown
Unknown
Unknown
LSG1
prasad_12_ASD_discovery_cases-case76066
qPCR
Unknown
Unknown
Unknown
KIAA0226
prasad_12_ASD_discovery_cases-case91085L
Unknown
Unknown
Unknown
TM4SF19,TM4SF19-TCTEX1D2
prasad_12_ASD_discovery_cases-case99746
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case99746
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_109
Unknown (not maternal)
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
quintela_17_DD/ID_discovery_cases-caseID_245
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
quintela_17_DD/ID_discovery_cases-caseID_354
Maternal
Unknown
NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,DLG1
quintero-rivera_10_ASD_discovery_cases-patient1
FISH
Possible paternal inheritance of bipolar disorder
De novo
Simplex
Segregated
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
quintero-rivera_10_ASD_discovery_cases-patient2
FISH
De novo
Simplex
Segregated
KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
reinthaler_14_EP_discovery_cases-caseAVRE02
Unknown
Unknown
Unknown
KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,MUC20-OT1,SLC51A,PCYT1A
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase9
BACs aCGH or FISH
De novo
Unknown
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
rosenfeld_10_ASD_discovery_cases-case15066
FISH
Unknown
Unknown
Unknown
BDH1,KIAA0226,FYTTD1,LRCH3,IQCG,RPL35A,LMLN
rosenfeld_10_ASD_discovery_cases-case17184
FISH
Paternal
Unknown
Unknown
MB21D2,HRASLS,ATP13A5,ATP13A4,OPA1,HES1,CPN2,LRRC15,GP5,ATP13A3,TMEM44,LSG1,FAM43A,XXYLT1,ACAP2
sagar_13_ASD/ID_discovery_cases-case1
FISH, aCGH
De novo
Simplex
Likely segregated
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
qPCR
Unknown
Unknown
Unknown
RNU6-858P,LRCH3,RPL35A,LMLN,IQCG
sanders_11_ASD_discovery_cases-11039.p1
Paternal
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-11079.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
sanders_11_ASD_discovery_cases-11099.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11108.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNU6-858P,LRCH3,IQCG
sanders_11_ASD_discovery_cases-11114.p1
Maternal
Simplex (quad-proband matched)
Segregated
ATP13A4
sanders_11_ASD_discovery_cases-11133.p1
Paternal
Simplex (trio)
NA
RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,LMLN,ANKRD18DP
sanders_11_ASD_discovery_cases-11135.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11158.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11167.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11202.p1
Maternal
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-11270.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FRG2FP,TUBB8P8,ANKRD18DP
sanders_11_ASD_discovery_cases-11277.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11289.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11304.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNF168
sanders_11_ASD_discovery_cases-11336.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LRCH3
sanders_11_ASD_discovery_cases-11375.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11376.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11412.p1
Unknown
Simplex (quad-proband matched)
Segregated
ATP13A4
sanders_11_ASD_discovery_cases-11447.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11453.p1
Paternal
Simplex (quad-proband matched)
Segregated
FRG2FP,TUBB8P8,ANKRD18DP
sanders_11_ASD_discovery_cases-11463.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-11465.p1
Paternal
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-11468.p1
Paternal
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-11485.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11495.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11509.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPA1-AS1,OPA1
sanders_11_ASD_discovery_cases-11550.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11612.p1
Maternal
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-11677.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11704.p1
Both parents
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-11721.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11775.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-821P,FRG2FP,TUBB8P8,ANKRD18DP
sanders_11_ASD_discovery_cases-11939.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-11981.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12006.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12014.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12052.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12060.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12117.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12330.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12330.p1
Both parents
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-12332.p1
Both parents
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-12343.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12359.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12460.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MELTF
sanders_11_ASD_discovery_cases-12469.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12581.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12591.p1
Paternal
Simplex (trio)
NA
ATP13A4
sanders_11_ASD_discovery_cases-12595.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12598.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12648.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12701.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12722.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-12787.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,LMLN,ANKRD18DP
sanders_11_ASD_discovery_cases-12944.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-13010.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-13041.p1
Paternal
Simplex (quad-proband matched)
Not segregated
XXYLT1-AS1,MIR3137,RN7SL36P,XXYLT1-AS2,XXYLT1
sanders_11_ASD_discovery_cases-13083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-13120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-13175.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP13A4
sanders_11_ASD_discovery_cases-13251.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FRG2FP
sanders_11_ASD_discovery_cases-13322.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ATP13A4
sandoval_talamantes_23_ASD_discovery_cases-caseAUT232
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,SDHAP1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
VEZF1P1
schaefer_10_ASD_discovery_cases-case2
FISH
Unknown
Unknown
Unknown
NA
shen_10_ASD_discovery_cases-ASD-09-037
Unknown
NA
NA
MIR4797,DLG1-AS1,LINC02012,BDH1,DLG1
speevak_11_DD_discovery_cases-case1
Unknown
NA
NA
MIR570,SDHAP2,SMBD1P,MUC20-OT1
tuncay_22_ASD_discovery_cases-caseMC-16-3
Unknown
Simplex
Unknown
DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,PAK2,MELTF,RNU7-18P,RNU6-42P,TM4SF19-DYNLT2B,MELTF-AS1,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
tuncay_22_ASD_discovery_cases-caseMC-17-3
Unknown
Simplex
Unknown
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
van_den_bossche_12_SCZ_discovery_cases-Zas8751
Unknown
Unknown
Unknown
LINC01063,RNU6-646P,RNU4-89P,FBXO45,NRROS,PIGX,CEP19,PAK2
van_den_bossche_12_SCZ_discovery_cases-Zas8756
Unknown
Unknown
Unknown
LINC01063,RNU6-646P,RNU4-89P,FBXO45,NRROS,PIGX,CEP19,PAK2
xu_16_ASD/DD/ID_discovery_cases-case4
Maternal
RNU1-20P,VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,RNU6-860P,CICP6,SEPT14P3,HRASLS,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,FGF12,MB21D2,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,LINC02026,DLG1,FAM157A
yin_16_ASD_discovery_cases-case159
Unknown
Unknown
Unknown
LINC00884
yin_16_ASD_discovery_cases-case160
Unknown
Unknown
Unknown
KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,LINC01983,TNK2,SDHAP1
yuan_23_ASD_discovery_cases-qma01703s000
De novo
BDH1,DLG1,PIGX,PIGZ,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,NRROS,LINC00885,RPS29P3,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,RPSAP69,PCYT1A,LINC01063,TFRC,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-910P,NCBP2,UBXN7
yuen_17_ASD_discovery_cases-case2-1702-004
Affymetrix CytoScan HD
De novo
Multiplex
Not segregated
KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0738-003
RT-qPCR or WGS
Unknown
MIR4797,DLG1-AS1,LINC02012,BDH1,DLG1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case11-0025-003
RT-qPCR or WGS
Unknown
PAK2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case11-0029-003
RT-qPCR or WGS
Unknown
PAK2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1702-004
RT-qPCR or WGS
Unknown
XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2AS2,MIR4797,DLG1-AS1,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
null
zhang_23_ASD/DD/ID_discovery_cases-caseASD0222
qPCR
De novo
BDH1,DLG1,PIGX,IQCG,PIGZ,FYTTD1,LMLN,LRCH3,CEP19,ZDHHC19,TM4SF19,NCBP2AS2,RNF168,SENP5,SLC51A,FBXO45,SMCO1,DYNLT2B,WDR53,ANKRD18DP,NRROS,LINC00885,RPS29P3,FAM157A,MIR922,FRG2FP,LINC02012,PAK2,MELTF,RNU7-18P,RNU6-42P,DLG1-AS1,TM4SF19-DYNLT2B,CICP6,MELTF-AS1,MIR4797,TM4SF19-AS1,NCBP2-AS1,UBXN7-AS1,LMLN-AS1,RPSAP69,RPL35A,PCYT1A,LINC01063,TUBB8P8,TFRC,RNU6-858P,RNU6-860P,RN7SL434P,RNU6-646P,RNU4-89P,RNU6-1279P,RN7SL738P,RNU6-821P,RNU6-621P,RNU6-910P,SEPTIN14P3,RUBCN,NCBP2,UBXN7
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
coe_14_ASD/DD/ID_discovery_controls-control70
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
coe_14_ASD/DD/ID_discovery_controls-control71
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
girirajan_13b_ASD_discovery_controls-10208109404
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-11406105845
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-11510113081
Unknown
MIR570,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_controls-12508109518
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-14710112915
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_controls-20308109922
Unknown
SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_controls-23107108218
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-25204100801
Unknown
NCBP2-AS1,NCBP2-AS2,NCBP2,PIGZ,RPSAP69,SENP5,MELTF
girirajan_13b_ASD_discovery_controls-2608108900
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-26405103148
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-28706106413
Unknown
MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_controls-30109111610
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-31207108545
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-31407108557
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-33409111730
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-34306106585
Unknown
MIR570,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_controls-37209111863
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-38206106769
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-38308110558
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_controls-38606106778
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-39306106798
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-40005104405
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-43206106894
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-45304101644
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-46006106980
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-48906107104
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-4906105609
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-54206107480
Unknown
SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_controls-54305104360
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-54606107478
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-55105104410
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-6007107751
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-606105484
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-6106105636
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
girirajan_13b_ASD_discovery_controls-6608109280
Unknown
MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,RNU6-860P,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,IQCG,FAM157A
girirajan_13b_ASD_discovery_controls-66404102339
Unknown
MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
girirajan_13b_ASD_discovery_controls-6808109293
Unknown
SMBD1P,MUC20,MUC4,MUC20-OT1
girirajan_13b_ASD_discovery_controls-9409110993
Unknown
MIR570,SDHAP2,SMBD1P,MUC20-OT1
kaminsky_11_DD/ID/ASD_discovery_controls-control0065
Unknown
RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
kanduri_15_ASD_discovery_controls-control_split1158
Unknown
ANKRD18DP (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split1391
Unknown
LMLN
kanduri_15_ASD_discovery_controls-control_split1494
Unknown
ANKRD18DP (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split1525
Unknown
LMLN
kanduri_15_ASD_discovery_controls-control_split1689
Unknown
Intergenic CNV: nearest genes, UBXN7(dist=8585),RNF168(dist=25596)
kanduri_15_ASD_discovery_controls-control_split2081
Unknown
Intergenic CNV: nearest genes, ANKRD18DP(dist=4142),FAM157A(dist=40975)
krumm_13_ASD_discovery_controls-control11336.s1
Maternal
Simplex
LRCH3
krumm_13_ASD_discovery_controls-control13169.s1
Maternal
Simplex
BDH1
krumm_13_ASD_discovery_controls-control13169.s1
Maternal
Simplex
RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,XXYLT1,ACAP2,MUC20-OT1
krumm_15_ASD_discovery_controls-control11158.s1
Illumina 1MDuo
De novo
RNU4-89P,RNU6-42P,PIGX,PAK2
krumm_15_ASD_discovery_controls-control11208.s1
Illumina 1M
De novo
MUC20P1,MIR570,APOD,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
krumm_15_ASD_discovery_controls-control11365.s1
Illumina 1M
Maternal
BDH1
krumm_15_ASD_discovery_controls-control11488.s1
Illumina 1M
Maternal
XXYLT1-AS1,MIR3137,RN7SL36P,XXYLT1-AS2,XXYLT1
krumm_15_ASD_discovery_controls-control12274.s1
Illumina 1MDuo
Maternal
TMEM44
krumm_15_ASD_discovery_controls-control13169.s1
Illumina 1MDuo
Maternal
DLG1-AS1,LINC02012,BDH1,DLG1
krumm_15_ASD_discovery_controls-control13169.s1
Illumina 1MDuo
Maternal
RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,XXYLT1,ACAP2,MUC20-OT1
krumm_15_ASD_discovery_controls-control13287.s1
1M-Duov3
Maternal
RPL35A,LMLN,IQCG
krumm_15_ASD_discovery_controls-control13854.s1
Omni2.5-4v1
Paternal
LMLN-AS1,RNU6-821P,LMLN,ANKRD18DP
krumm_15_ASD_discovery_controls-control13901.s1
Omni2.5-4v1
Paternal
RNU6-858P,RNU6-621P,FYTTD1,LRCH3,RPL35A,LMLN,IQCG
krumm_15_ASD_discovery_controls-control14197.s1
Omni2.5-4v1
Maternal
MUC20,MUC4,MUC20-OT1
levy_11_ASD_discovery_controls-11365.s1
Maternal
Simplex
NA
LINC02012,BDH1
levy_11_ASD_discovery_controls-11488.s1
Maternal
Simplex
NA
XXYLT1-AS1,MIR3137,RN7SL36P,XXYLT1-AS2,XXYLT1
poultney_13_ASD_discovery_controls-control04C27077A
Unknown
MIR4797,DLG1-AS1,LINC02012,BDH1,DLG1
poultney_13_ASD_discovery_controls-control04C27077A
Unknown
RNU6ATAC24P,RN7SL73P,PPP1R2,APOD
poultney_13_ASD_discovery_controls-control05C39645A
Unknown
MIR6829,TNK2
sanders_11_ASD_discovery_controls-11038.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11086.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11099.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11108.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11234.s1
Paternal
Simplex (quad)
NA
LMLN
sanders_11_ASD_discovery_controls-11307.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11310.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11328.s1
Both parents
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11339.s1
Both parents
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11365.s1
Maternal
Simplex (quad)
NA
LINC02012,BDH1
sanders_11_ASD_discovery_controls-11375.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11376.s1
Both parents
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11412.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11447.s1
Both parents
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11488.s1
Maternal
Simplex (quad)
NA
XXYLT1-AS1,MIR3137,RN7SL36P,XXYLT1-AS2,XXYLT1
sanders_11_ASD_discovery_controls-11494.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11526.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11542.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11550.s1
Both parents
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11667.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11793.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11939.s1
Both parents
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-11941.s1
Unknown
Simplex (quad)
NA
XXYLT1
sanders_11_ASD_discovery_controls-11981.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12014.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12052.s1
Both parents
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12060.s1
Both parents
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12359.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12441.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12494.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12561.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12581.s1
Paternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12638.s1
Paternal
Simplex (quad)
NA
MB21D2
sanders_11_ASD_discovery_controls-12648.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12722.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-12788.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-13005.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-13010.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-13169.s1
Maternal
Simplex (quad)
NA
LINC02012,BDH1
sanders_11_ASD_discovery_controls-13175.s1
Maternal
Simplex (quad)
NA
ATP13A4
sanders_11_ASD_discovery_controls-13251.s1
Maternal
Simplex (quad)
NA
FRG2FP,TUBB8P8
sanders_11_ASD_discovery_controls-13296.s1
Paternal
Simplex (quad)
NA
MB21D2
sanders_11_ASD_discovery_controls-13322.s1
Both parents
Simplex (quad)
NA
ATP13A4
stamouli_18_ASD/NDD_discovery_controls-family42_Twin_2
Unknown
N/A (both twins typically developing)
TNK2
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
Unknown
N/A (both twins typically developing)
MIR6829,TNK2
# of Model: 1
# of References: 1
# of References: 1
Mouse Chromosome Information
16
Model Summary
C57Bl/6 mice with a CRISPR/Cas9 mediated heterozygous deletion the human 3q29 CNV in the syntenic region on the mouse chromosome 16 show reduced body weight, impaired social interaction, cognitive function, acoustic startle, and amphetamine sensitivity, with some sexual dimorphism. Dlg1het mice did not exhibit the behavioral deficits seen in mice harboring the full 3q29 deletion.
External Links
References
Report Type
Title
Author, Year
Primary
Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion
M_DF(3)_1_HT
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: C57Bl/6 mice with a CRISPR/Cas9 mediated heterozygous deletion of the human 3q29 CNV syntenic region on the mouse chromosome 16 between Chr.16:31,369,117 (GRCm38.p3) and Chr.16:32,634,414 (GRCm38.p3) [ genotype: B6.Del16^+/Bdh1-Tfrc].
Synteny: 1.6Mb on the human chr 3q29 between genes BDH1 and TFRC. The 1.2Mb mouse and 1.6Mb human regions are almost identical with all 21 genes present in the same sequential order in reverse.
M_DF(3)_1_HT
| Category | Entity | Quantity | Experimental Paradigm | Age at Testing |
| Motor phenotype | Swimming ability 1 |
Increased
Description:
Female mutants show an increase in swim speed on the 5th day of the Morris water maze trial compared with controls.
|
Morris water maze test | 4 months |
| Motor phenotype | Hyperactivity 1 |
Decreased
Description:
Female mutants show decrease in ambulation following amphetamine injections compared with controls. Male mutants show no change in ambulation following 2.5mg/kg amphetamine injection but show a decrease in ambulation following 7.5mg/kg amphetamine injection compared with controls.
Exp Paradigm: Amphetamine was intraperitoneally injected at doses of 2.5 or 7.5 mg/kg and post-injection ambulation were measured for 2 h; Ambulation were recorded for 35-65 mins post-injection. |
Novel cage test | 4 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size 1 |
Decreased
Description:
Mutants show decrease in brain size compared with controls. Only females and not males show an increase in the ratio of brain weight by body weight compared with controls.
|
Measurement of tissue weight | Adult |
| Sensory | Startle response: acoustic stimulus 1 |
Increased
Description:
Female mutants show increase in startle response compared with controls. Reduced weight had no effect on startle response changes.
|
Acoustic startle reflex test | 4 months |
| Social behavior | Social approach 1 |
Decreased
Description:
Male mutants did not spend more time interacting with the unfamiliar mouse over the empty cup unlike controls.
|
Three-chamber social approach test | 4 months |
| Developmental profile | Size/growth 1 |
Decreased
Description:
Mutants show decrease in body weight compared with controls.
|
Body weight measurement | 1 - 17 weeks |
| Emotion | Fear response 1 |
Increased
Description:
Female mutants show increase in freezing in response to tone-shock pairings in the training phase of the fear conditioning test compared with controls.
|
Fear conditioning test | 4 months |
| Learning & memory | Spatial reference memory 1 |
Decreased
Description:
Male mutants spent less time in the quadrant that had held the hidden platform compared with controls.
|
Morris water maze test | 4 months |
| Molecular profile | Targeted expression 1 |
Decreased
Description:
Mutants show ~50% reduction in mRNA abundance for 20 of the 21 genes (except Tfrc was not reduced in female and 30% reduced in male) in the interval compared with controls.
Exp Paradigm: forebrain |
Quantitative pcr (qrt-pcr) | Adult |
| Molecular profile | Targeted expression 1 |
Decreased
Description:
Mutants show reduction in protein abundance of genes (DLG1, UBXN7, PAK2, PCYT1A, WDR53, and BDH1) in the interval compared with controls. Mutants show no change in the protein levels of TFRC, SENP5, RNF168, FBXO45, and NCBP2 compared with controls.
Exp Paradigm: forebrain |
Western blot | Adult |
| Circadian sleep/wake cycle | Locomotor activity in diurnal cycle 1 | No change | Novel cage test | 4 months |
| Emotion | Anxiety 1 | No change | Elevated plus maze test | 4 months |
| Emotion | Anxiety 1 | No change | Open field test | 4 months |
| Emotion | Fear response 1 | No change | Fear conditioning test | 4 months |
| Learning & memory | Cued or contextual fear conditioning: memory of context 1 | No change | Fear conditioning test | 4 months |
| Learning & memory | Cued or contextual fear conditioning: memory of cue 1 | No change | Fear conditioning test | 4 months |
| Learning & memory | Spatial learning 1 | No change | Morris water maze test | 4 months |
| Learning & memory | Spatial reference memory 1 | No change | Morris water maze test | 4 months |
| Motor phenotype | Swimming ability 1 | No change | Morris water maze test | 4 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain development 1 | No change | Immunofluorescence staining | E15.5 |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology 1 | No change | Histology | Adult |
| Repetitive behavior | Repetitive digging 1 | No change | Marble-burying test | 4 months |
| Sensory | Sensorimotor gating 1 | No change | Prepulse inhibition | 4 months |
| Sensory | Startle response: acoustic stimulus 1 | No change | Acoustic startle reflex test | 4 months |
| Social behavior | Social approach 1 | No change | Three-chamber social approach test | 4 months |
| Not Reported: | Communications, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Seizure, | |||
| References: | 1: Rutkowski TP et al. 2021 | |||