16p13.3CNV Type: Deletion-Duplication
Largest CNV size: 2400000 bp
Statistics Box:
Number of Reports: 73
Number of Reports: 73
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Strong association of de novo copy number mutations with autism.
Deletion
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.
Deletion
De novo rates and selection of large copy number variation.
Deletion-Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Outfoxed by RBFOX1-a caution about ascertainment bias.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion
A large data resource of genomic copy number variation across neurodevelopmental disorders
Deletion-Duplication
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
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
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
Deletion
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Deletion
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Duplication
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Duplication
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Deletion
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
Deletion
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman
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
73671
2
1
3
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
241361
1
0
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
11432
1
0
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
147000
2
0
2
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
112623
2
1
3
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
762
1
0
1
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
2400000
0
1
1
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
189599
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
233
2
0
2
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
6502001
0
1
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
2060568
5
2
7
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
1058000
0
1
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
2250000
0
1
1
cuinat_22_DD/ID_discovery_cases
Individuals with de novo 16p13.3 deletions affecting the SRRM2 gene from an initial cohort of 22 patients with predicted loss-of-function variants in this gene, most of whom were identified by GeneMatcher.
2
Both cases presented with developmental delay (DD), intellectual disability (ID), and features of ADHD; one case also presented with autistic features.
Range, 7-14 yrs.
Male
269040
2
0
2
deemer_12_DD/ID_discovery_cases
Nine unrelated patients carrying 16p13.3 microduplications
9
Intellectual disability (ID) confirmed in 7/9 patients (two patients were too young to be evaluated for ID). Additional comorbidities: 3 cases with behavioral problems, 2 cases with ADHD, one case with ASD and ADHD.
Range, 19 mos.-15 yrs.
77.78% Male
3500000
0
9
9
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
319784
2
0
2
eisfeldt_24_ASD_discovery_cases
Probands from five families enrolled in the Autism Speaks MSSNG project investigated for complex genomic rearrangments (CGRs) involving large duplications.
5
Probands were diagnosed with autism spectrum disorder by either meeting ADI-R or ADOS criteria or by receiving a clinical diagnosis from an expert physician following DSM-IV or DSM-5 criteria.
80% Male
211154
0
4
4
elalaoui_21_DD/ID_discovery_cases
Individual carrying a de novo 16p13.3 deletion affecting the CREBBP gene from an initial cohort of six Moroccan patients with Rubinstein-Taybi syndrome presented to the Department of Medical Genetics (Rabat, Morocco).
1
Case presented with developmental delay (DD) and intellectual disability (ID).
3 yrs.
Male
97593
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
655970
5
5
10
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
41779
0
1
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
59328
1
0
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
124945
2
2
4
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
616681
2
1
3
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
326625
0
2
2
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.
245349
16
2
18
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
200000
10
0
10
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
942695
0
3
3
granata_25_ASD_discovery_cases
"Patients recruited from the Child Neuropsychiatry Unit and the Cytogenetics and Medical Genetics Unit of ""ASST Sette Laghi"", Varese, Italy."
122
Cases diagnosed with ASD based on DSM-5 criteria and presented without epilepsy, dysmorphic features, intellectual disability, microcephaly, six or more minor anomalies, or systemic congenital malformations.
Range, 3-12 yrs.
85.25% Male
91242
1
0
1
gupta_25_ASD_discovery_cases
ASD probands recruited primarily from the clinics in the Genetics and Developmental Medicine departments at Sultan Qaboos University hospitals between 2015 and 2022 in the Muscat and Batinah governates; all participants were Omani nationals, and all parents were negative for autistic traits.
104
Cases received a clinical diagnosis of ASD based on DSM-5 criteria.
66.35% Male
1174
1
0
1
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
296944
2
3
5
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
644048
1
5
6
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
185571
1
1
2
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
482290
0
1
1
kamien_14_ASD_discovery_cases
Three patients with RBFOX1 CNVs seen in clinical genetics unit (New South Wales, Australia)
3
All three cases met DSM-IV-TR criteria for ASD (autistic disorder in two cases, PDD-NOS in one case).
Range, 5-9 yrs.
66.67% Male
199000
2
1
3
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
3167858
15
17
32
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
18752
2
1
3
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
84222
4
3
7
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1210978
N/A
N/A
19
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
30568
2
0
2
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
274137
4
0
4
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
582088
9
0
9
lal_13_EP_discovery_cases
Index patients with rolandic epilepsy screened for copy number variations in the RBFOX1, RBFOX2, and RBFOX3 genes
289
Diagnosis of rolandic epilepsy performed according to International Classification of Seizures and Epilepsies; 98 index cases from multiplex families, 191 index cases from simplex families.
N/A
N/A
365000
1
0
1
lal_13_EP_discovery_cases
Epilepsy patients recruited as a concerted effirt of epilepsy genetics programs integrated in the European EPICURE Project screened for RBFOX1 deletions
1408
Diagnosis of idiopathic generalized epilepsy: 413 cases with childhood absence epilepsy (CAE), 207 cases with juvenile absence epilepsy (JAE), 7 cases with unspecified idiopathic absence epilepsy (IAE), 557 cases with juvenile myoclonic epilepsy (JME), and 224 cases with epilepsy with generalized tonic-clonic seizures alone (EGTCS). IGE patients with severe intellectual disability not included.
NA
38.28% Male
896000
8
0
8
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
57904
7
0
7
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
913196
0
6
6
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
1100000
0
1
1
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
4933337
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
1234322
2
2
4
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
1028404
1
0
1
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
4532360
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
1478000
2
2
4
martin_07_ASD_discovery_cases
Autistic proband enrolled in AGRE (AU077504); proband was previously included in Sebat et al., 2007 CNV report.
1
ASD (diagnosis based on CARS and ADI-R scores)
12 yrs. 2 mo.
Female
160000
1
0
1
martin_07_ASD_replication_cases
Autistic probands enrolled in AGRE
88
ASD
160000
0
0
0
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
1510000
1
1
2
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
300291
1
0
1
mucha_18_DD/ID/EP_discovery_cases
Individuals with overlapping 16p13.3 microdeletions with a minimally overlapping region of 112 kb that includes seven genes (TBC1D24, ATP6V0C, AMDHD2, CEMP1, MIR3168, PDPK1, and DQ577714)
8
All 8 cases presented with developmental delay/intellectual disability (DD/ID) and seizure disorder; furthermore, three cases presented with ADHD, and one case was diagnosed with ASD.
Range, 5.5-39 years
75.0% Male
504000
8
0
8
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
60
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
7627598
5
20
25
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
33552
1
0
1
panigrahi_24_ASD/DD/ID_discovery_cases
Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
32
Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
78.125% Male
1084976
0
2
2
peycheva_18_ID/EP_discovery_cases
Patients referred by clinicians from major neurologic clinics in Bulgaria (47 cases with positive family history for developmental delay/intellectual disability and/or seizures, 45 sporadic cases)
92
Cases primarily presented with intellectual disability (99%) and epilepsy/seizures (96%), with some exhibiting behavioral abnormalities (43%), dysmorphic features (52%), delayed or absent speech (45%), microcephaly (15%), motor disorders (37%), and brain structural abnormalities (31%)
Range, 1-22 years
54.35% Male
227000
1
0
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
1358743
1
0
1
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
28466
0
1
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)
186429
4
3
7
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
1706625
7
2
9
saia_23_TS_discovery_cases
Patients with a clinical diagnosis of Tourette syndrome enrolled between April 2021 and April 2022 (Child and Adolescent Neurology and Psychiatry of the Medical and Experimental Department, Catania University).
93
Cases were diagnosed with Tourette syndrome (TS) according to DSM-5 criteria; symptoms of TS were evaluated with the Yale Global Tic Severity Rating Scale (YGTSS). Co-morbidities included intellectual disability, obsessive compulsive disorder (OCD), oppositional defiant disorder (ODD), ADHD, and ASD.
Mean age, 12.1 +/- 3.1 yrs.
76.3% Male
127635
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
44705
1
2
3
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
1252803
84
34
118
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
45000
2
0
2
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
207980
1
0
1
servetti_21_ASD/ID/EP_discovery_cases
Individuals with complex neurodevelopmental disorder (NDD) phenotypes born to non-consanguineous parents, including one affected sib pair.
12
All 12 cases presented with varying degrees of intellectual disability (ID); four cases also presented with epilepsy, while three cases also presented with autism spectrum disorder (ASD).
NA
83.33% Male
196723
1
0
1
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
1700981
0
1
1
tuncay_22_ASD_discovery_cases
ASD probands from 22 families (20 trios, 1 quad with two affected siblings, and 1 quad with an affected proband and his unaffected fraternal twin) with recent shared ancestry that were recruited either from Jordan or from the Dallas/Fort Worth area.
23
Cases diagnosed with ASD based on standard autism diagnostic measures (ADOS, ADI-R, DSM-V)
NA
86.96% Male
1429489
4
0
4
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
24565
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
1058142
3
2
5
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
210999
0
3
3
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
372796
1
3
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
110181
2
0
2
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
4419
1
0
1
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
762
1
0
1
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
623328
6
10
16
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.
245349
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
200000
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
705858
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
178351
4
0
4
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
86026
2
1
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
115350
5
4
9
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
331049
1
0
1
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
244952
2
1
3
lal_13_EP_discovery_controls
Control subjects obtained from PopGen biobank and KORA research platform screened for RBFOX1 deletions
2256
Controls not screened for epilepsy or other neurodevelopmental disorders
NA
NA
NA
2
0
2
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
57904
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
98459
1
1
2
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
4
1
5
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
14865
2
0
2
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)
10749
2
0
2
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)
1706625
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.
138131
45
34
79
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
207980
0
0
0
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
50356
2
0
2
tropeano_13_DD/ASD_discovery_controls
Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
11277
Control
N/A
N/A
883644
1
0
1
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
1058142
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
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
cuinat_22_DD/ID_discovery_cases
NA
Solid phase hybridization
Illumina CytoSNP-850K BeadChip
NA
NA
None
deemer_12_DD/ID_discovery_cases
NA
aCGH, array SNP
Agilent 44B, BACs aCGH, Affymetrix 250K, Affymetrix 6.0
qPCR, FISH, MLPA
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
eisfeldt_24_ASD_discovery_cases
Canada, United States, and Sweden
Long-read genome sequencing
PromethION (Oxford Nanopore Technologies)
BCFtools
Digital qPCR
elalaoui_21_DD/ID_discovery_cases
Morocco
aCGH
Agilent 60K Custom
NA
Agilent CytoGenomics v.3.0.1.1
QMF-PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
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
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
qPCR, Taqman assay
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
granata_25_ASD_discovery_cases
Italy
aCGH
CytoSure ISCA V3 4x180K
CytoSure Interpret (OGT)
gupta_25_ASD_discovery_cases
Oman
Genome sequencing
Illumina HiSeq4000
DRAGEN v.4.2.4, GATK Germline CNV caller
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
None
kamien_14_ASD_discovery_cases
N/A
aCGH
BlueGnome 60K ISCA array
BlueMulti v.26
FISH or aCGH (Agilent 15K)
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
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_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lal_13_EP_discovery_cases
Germany
Solid phase hybridization
Illumina Infinium OmniExpress Exome BeadChip
PennCNV
Illumina Genome Viewer
qPCR
lal_13_EP_discovery_cases
Northwestern European
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1.1
qPCR
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
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
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
martin_07_ASD_discovery_cases
FISH
qPCR
martin_07_ASD_replication_cases
qPCR
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
mucha_18_DD/ID/EP_discovery_cases
N/A
CMA
N/A
None
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
panigrahi_24_ASD/DD/ID_discovery_cases
India
Array SNP
Affymetrix CytoScan 750K
peycheva_18_ID/EP_discovery_cases
Bulgarian
aCGH
Agilent SurePrint G3 Human CGH Microarray Kit, Agilent 4x180K, Agilent SurePrint G3 Unrestricted CGH ISCA v2 4x180K
Agilent Feature Extraction v12.0.1.1, OGT Cytosure Interpret v4.3
qPCR
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
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
saia_23_TS_discovery_cases
Italy
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.11.5, Agilent Genomic Workbench v.7.0.4.0.
MLPA, RT-PCR
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
servetti_21_ASD/ID/EP_discovery_cases
Italy
aCGH
Agilent Human Genome CGH 180K
NA
Agilent CytoGenomics
None
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
tuncay_22_ASD_discovery_cases
Predominantly Middle Eastern, South Asian, and European
WGS
Illumina HiSeq X
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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_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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
lal_13_EP_discovery_controls
German
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1.1
None
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
tropeano_13_DD/ASD_discovery_controls
77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
Solid phase hybridization
Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
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-case145
2.5 yrs.
M
ASD and developmental delay
Autism, hyperactivity, speech delay. Growth parameters: height 1.02 m, weight 15 kg, head circumference 50 cm. Family history: born to non-consanguineous parents.
1142961
1206259
63299
GRCh38
Deletion
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case81
0.5 yrs.
M
Hypertonia, normal deep tendon reflexes. Growth parameters: height 0.64 m, weight 4.4 kg, head circumference 41 cm. Family history: 1 deceased sibling; born to consanguineous parents.
2079380
2143421
64042
GRCh38
Duplication
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case95
6 yrs.
F
ASD
Autism. Growth parameters: height 1.15 m, weight 19 kg, head circumference 49 cm. Family history: born to non-consanguineous parents.
6816135
6889805
73671
GRCh38
Deletion
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case448
1.5 yrs.
F
ASD and developmental delay
Developmental milestones: delayed speech and language development (HP:0000750). Behavioral/psychiatric evaluation: autism (HP:0000717). Growth parameters: head circumference 48 cm, height 79 cm, weight 10.5 kg.
2057156
2298516
241361
GRCh38
Deletion
No
annunziata_21_ASD_discovery_cases-caseIB293
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
6048395
6059826
11432
GRCh38
Deletion
Yes
asadollahi_14_NDD_discovery_cases-case43552
19 yrs.
M
Intellectual disability
Intellectual disability, speech problems, spastic movement disorder, tall stature
4996262
5056680
60419
GRCh38
Deletion
Yes
asadollahi_14_NDD_discovery_cases-case71156
1 yr.
F
Developmental delay
Developmental delay, microcephaly, facial dysmorphic features
3738866
3885835
146970
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_cases-caseAB41
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
5667323
5690784
23462
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_cases-caseAB74
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
6616747
6650499
33753
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_cases-caseAB86
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
6766913
6879535
112623
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseSSC04850
N/A
F
ASD
Case from SSC_phase2 cohort
2060812
2061573
762
GRCh38
Deletion
No
bremer_11_ASD_discovery_cases-case4
6
F
ASD
Syndromic ASD, sporadic case
MR (IQ<70)
3342370
5702859
2360490
GRCh38
Duplication
Yes
calderoni_20_ASD_discovery_cases-caseP3
3 yrs. 6 mos.
F
ASD
Language and communication evaluation: speech delay/absent speech.
IQ 70
6831090
7020688
189599
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
2776897
2777130
234
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11415
NA
M
ASD
NA
NA
3025857
3025998
142
GRCh38
Deletion
No
chan_22_ASD_discovery_cases-case3-0313-000
NA
M
ASD
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Language and communication evaluation: speech dyspraxia, loss of a 10-word vocabulary at 3 years followed by usage of 20 words approximations at 5 years 7 months. Brain imaging: anomalous optic nerve heads (no central disc cup, redundent vessels at the disc) and Drusen of the left optic nerve documented at 5 years. Additional medical history: severe velopharyngeal insufficiency, asthma. Dysmorphic features: abnormal eyebrows (thick medially, sparse laterally), asymmetric upslanting palpebral fissures, malar hypoplasia, square upturned nose, small mouth with immobile soft palate, dystrophic finger and toenails (all nails were absent at birth).
292000
6794000
6502001
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case113
N/A
F
Developmental delay
Developmental delay, facial dysmorphism and tuberous sclerosis. Family history: affected twin sister with same phenotype and 16p13.3 deletion.
35880
2095950
2060071
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case115
N/A
F
Developmental delay
Developmental delay, facial dysmorphism and tuberous sclerosis. Family history: affected twin sister with same phenotype and 16p13.3 deletion.
35880
2096447
2060568
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case180
4 yrs.
M
Developmental delay
Developmental delay, hypothyroidism
6193227
6785897
592671
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case319
N/A
F
MCA
Anal imperforation, onfalocele and cloacal exstrophy
1202411
1354817
152407
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case384
2 yrs.
M
Motor delay
Motor delay, chronic encephalopathy, spastic quadriparesis
7058168
7175284
117117
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case444
5 yrs.
M
ASD and developmental delay
Autism spectrum disorder, developmental delay
6594078
6625605
31528
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case81
N/A
M
Speech delay
Speech and/or language delay or impairment, convulsions and facial dysmorphism
499826
1399861
900036
GRCh38
Duplication
No
chen_17_ASD_discovery_cases-caseU-2015
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 3 (past score 8); Qualitative abnormalities in verbal and nonverbal communication, current score 5 (past score 7); Qualitative abnormalities in nonverbal communication, current score 0 (past score 1); Restricted, repetitive, and stereotyped patterns of behaviour, current score 7 (past score 7); Abnormality of development evident at or before 36 months, past score 0. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 93; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 31. Epilepsy: no history of epilepsy.
Performance IQ 109, Verbal IQ 105, Full-scale IQ 107
5892658
6950799
1058142
GRCh38
Duplication
Yes
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3983
N/A
M
Intellectual disability
Mild intellectual disability, multiple congenital anomalies (MCA), blepharophimosis, dysmorphic features. Family history: none reported.
Mild intellectual disability
2955167
5205794
2250628
GRCh38
Duplication
Yes
cuinat_22_DD/ID_discovery_cases-case15
7 yrs.
M
Developmental delay, intellectual disability, autistic features, and ADHD features
Birth/neonatal history: premature birth (36+4 weeks). Developmental milestones: developmental delay, langauge delay (first words at 1 years, first sentences at 3 years, followed by developmental stagnation). Motor and musculoskeletal evaluation: coordination problems/dyspraxia. Behavioral/psychiatric evaluation: autistic features, ADHD features. Dysmorphic features: facial dysmorphism. Growth parameters: decreased body mass index (3rd %ile). Family history: this patient also had an Xp22.33 duplication inherited from a father with ADHD.
Mild intellectual disability (IQ 55)
2713526
2982565
269040
GRCh38
Deletion
No
cuinat_22_DD/ID_discovery_cases-case22
14 yrs.
M
Developmental delay, intellectual disability, and ADHD features
Developmental milestones: developmental delay, language delay (first words at 25 months), delayed ability to walk (18 months). Motor and musculoskeletal evaluation: abnormalities of the hands and feet (thin fingers, sandal gap). Behavioral/psychiatric evaluation: ADHD features, behavioral problems (often very tired). Additional medical history: feeding difficulties. Dysmorphic features: Growth parameters: microcephaly (-2.5 SD).
Mild intellectual disability (IQ 55)
2697759
2763510
65752
GRCh38
Deletion
No
deemer_12_DD/ID_discovery_cases-patient1
13.5 yrs.
M
Intellectual disability and ADHD
Birth/neonatal history: delivered by C-section at 39 weeks; birth weight 25th-50th %ile, length 9th-25th %ile, head circumference 90th %ile; neonatal examination showed bilateral pes calcaneovalgus and left ptosis. Developmental milestones: walking at 15-16 months. Language and communication evaluation: N/A. Motor and musculoskeletal evaluation: developed bilateral pes cavovarus from age 11, with signs of disturbed peripheral circulation with areflexia pf lower limbs also noted; mild pectus excavatum, proximal placement of thumbs. Behavioral/psychiatric evaluation: ADHD. Other features: inguinal hernia repaired at age of 5 years. Dysmorphic features: small and upslanting palpebral fissures with epicanthus, ptosis of left eye, right strabismus, midface hypoplasia, hyperconvex fingernails and toenails. Growth parameters: normal growth at 13.5 years [height of 157 cm (25th-50th %ile) and weight of 42 kg (25th-50th %ile)]. Family history: only child of healthy unrelated parents of Swedish origin; unremarkable family history.
Mild intellectual disability (FSIQ of 54; verbal IQ of 79)
3711911
3955520
243610
GRCh38
Duplication
Yes
deemer_12_DD/ID_discovery_cases-patient2
19 mos.
M
Developmental delay
Birth/neonatal history: born at gestational age of 39 weeks after uneventful pregnancy; birth weight 2nd %ile, lenght <0.4th %ile, head circumference 25th %ile; neonatal examination showed bilateral inguinal hernia and facial dysmorphism; bronchotrachomalacia diagnosed at 2 weeks; cardiac ultrasound detected dextrocardia. Developmental milestones: able to walk unaided from 18 months. Language and communication evaluation: poor speech (<5 words). Motor and musculoskeletal evaluation: relative facial hypotonia; fingers tended to stay in a flexed but not fixed position; distal flexion creases of fingers iV and V absent; hypoplasia of middle and distal phalanges of finger V. Behavioral/psychiatric evaluation: alert child, good eye contact. Dysmorphic features: midface hypoplasia, short nose with anteverted nares, long philtrum, slightly upslanted palpebral fissures, thin blond hair, thin translucent skin, high forehead with cowlick, short hypoplastic nose, low set and posteriorly rotated ears, short neck, hypoconvex toenails. Growth parameters:. Family history: second child of healthy unrelated parents.
3656247
4041020
384774
GRCh38
Duplication
Yes
deemer_12_DD/ID_discovery_cases-patient3
22 mos.
M
Developmental delay
First seen at genetic department at 22 months of age due to facial dysmorphism and psychomotor delay. Birth/neonatal history: uneventful pregnancy; birth weight 50th %ile, birth length 75th %ile, head circumference 25th %ile, Apgar score 10/10; neonatal exam showed cleft palate and microganthia, dysmorphic facial features and bilateral talus valgus which regressed with help of splint and physiotherapy; divergent strabismus noted at 9 months. Developmental milestones: sat at 10 months of age, walked at 21 months. Language and communication evaluation: speech delay, vocabulary of only 3 words. Motor and musculoskeletal evaluation: short, rather proximally implanted thumbs, clinodactyly of 5th fingers, halluces large and in a varus position. Behavioral/psychiatric evaluation: no behavioral problems or sleep disturbances. Dysmorphic features: bilateral epicanthi, small and slightly upslanting palpebral fissures, thick alae nasi, small nares, midface hypoplasia, micrognathia, hyperconvex fingernails. Growth parameters: normal; weight of 12 kg (50th %ile), lenght of 87 cm (50th-75th %ile), and head circumference of 48.5 cm (9th-25th %ile) at 22 months. Family history: first child of healthy unrelated parents; unremarkable family history.
3676605
4865282
1188678
GRCh38
Duplication
Yes
deemer_12_DD/ID_discovery_cases-patient4
6 yrs.
F
Intellectual disability and ADHD
Birth/neonatal history: uneventful pregnancy, born at gestational age of 39 weeks; birth weight 25th-50th %ile, length 50th %ile, head circumference 25th %ile; right ptosis noted on neonatal examination (surgically repaired). Developmental milestones: speech delay noted at 2.5 years; otherwise in normal range with walking at 17 months and daytime toilet training from 2 years. Language and communication evaluation: speech delay. Motor and musculoskeletal evaluation: relative facial hypotonia; short and proximally set thumbs, increased space between hallux & 2nd toe, right II clinodactyly, II-III bilateral syndactyly. Behavioral/psychiatric evaluation: diagnosed with ADHD. Dysmorphic features: high and broad forehead, telecanthus with small and upslanting palpebral fissures, bilateral epicanthi, midface hypoplasia, rather small nostrils, large uvula. Growth parameters: height of 122 cm (91st %ile), height of 22.6 kg (75th %ile), and head circumference of 51 cm (50th %ile) at 6 years. Family history: only child of healthy unrelated parents with an unremarkable family history; 4 half-siblings on mother's side.
Moderate intellectual disability (predominant on language side)
2773439
4084808
1311370
GRCh38
Duplication
Yes
deemer_12_DD/ID_discovery_cases-patient5
15 yrs.
M
Developmental delay/intellectual disability
Birth/neonatal history: born at term but was of lower birth weight (~2.7 kg) than healthy siblings (3.3-3.6 kg), no nails on halluces until age of 18 months. Developmental milestones: delayed milestones; walked at 2.5 years. Language and communication evaluation: since age of 4 years case has used occasional single words but primarily communicates via Makaton sign langugae; receptive language better than expressive language. Motor and musculoskeletal evaluation:. Behavioral/psychiatric evaluation:. Other features: mild sensorineural hearing loss on right and profound-to-moderate hearing loss on left side (wears a hearing aid); localized dilation of sinus of Valsalva noted. Dysmorphic features: cleft palate (repaired at 5 years), hypoplastic midface, depressed nasal bridge, prominent rather simple ears with very small ear canals. Growth parameters: normal; height 25th %ile, weight 9th-25th %ile, OFC 9th-25th %ile. Family history: second child of healthy unrelated parents from South East Asia; three siblings developing normally.
Moderate-severe learning disability
3714779
5236856
1522078
GRCh38
Duplication
Yes
deemer_12_DD/ID_discovery_cases-patient6
7.5 yrs.
F
Intellectual disability and behavioral problems
Birth/neonatal history: born after uneventful pregnancy; birth weight 25th %ile, length 50th %ile, head circumferecne 9th %ile; facial dysmorphism and adducted hypoplastic thumbs noted at birth; feeding problems during first three months of life. Developmental milestones: delayed psychomotor development, sitting at 9 months, walking at 2.5 years; severely delayed speech; day-toilet training at 5 years. Language and communication evaluation: nasal speech, able to say a few, partly incomprehensible words. Motor and musculoskeletal evaluation: short and proximally set thumbs, ankle flexion limited predominantly on right side, right pes cavus. Behavioral/psychiatric evaluation: behavioral problems (frequent fits of anger, hyperactivity), no sleep disturbances. Other features:. Dysmorphic features: high and broad forehead, high nasal bridge, bilateral ptosis, telecanthus, very short palpebral fissures, anteversion of nostrils, slightly protruding and low-set ears, bifid uvula, short neck, hyperconvex fingernails. Growth parameters: weight of 17.2 kg (50th %ile), height of 112 cm (75th %ile), and head circumference of 50 cm (9th %ile) at 5 years of age. Family history: second child of healthy unrelated parents; unremarkable family history.
Moderate intellectual disability (verbal IQ 44 and performance IQ 56 on WPPSI-III evaluation)
2586802
4961718
2374917
GRCh38
Duplication
Yes
deemer_12_DD/ID_discovery_cases-patient7
8 yrs.
M
Intellectual disability and behavioral problems
Birth/neonatal history: born at gestational age of 38.5 weeks after uneventful pregnancy; birth weight 2nd %ile, birth length 0.4th %ile, head circumference 5th %ile; bilateral talus valgus noted and treated by splint and physiotherapy; relative macrocephaly at 22 months (head circumference of 53.5 cm/97th %ile). Developmental milestones: speech delay; sat at 12 months, walked at 18.5 months, day-toilet trained at 4 years. Language and communication evaluation: language impairment more severe on comprehensive than on expressive language; not yet able to associate words. Motor and musculoskeletal evaluation: proximally implanted and addcuted thumbs, moderate hyperlaxity of large joints. Behavioral/psychiatric evaluation: marked behavioral problems, including destructive behavior and temper tantrums; no sleep disturbances. Brain imaging: lacunae around corpus callosum detected by MRI. Dysmorphic features: high forehead, telecanthus, epicanthal folds. Growth parameters: normal growth, with weight of 25 kg (50th %ile) and height of 131 cm (75th %ile). Family history: born to healthy, unrelated parents.
Moderate intellectual disability
929681
3974887
3045207
GRCh38
Duplication
Yes
deemer_12_DD/ID_discovery_cases-patient8
14 yrs.
M
Intellectual disability and ASD
Patient referred to genetic department at age of 10 months for facial dysmorphism and moderate global pscyhomotor delay. Birth/neonatal history: uneventful pregnancy, cleft palate (surgically corrected at 20 months of age), neonatal hypotonia; surgery required at 8 months for strangulated inguinal hernia. Developmental milestones: moderate global psychomotor delay; growth delay (weight 0.4th %ile, height <0.4th %ile, head circumference 50th %ile); wlaked at 4 years of age, toilet-trained at 6 years. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: short and proximally set thumbs, long fingers, bilateral pes cavus. Behavioral/psychiatric evaluation: behavioral problems diagnosed as ADHD and ASD. Other features: admitted to ICU at age of 9 years due to epileptic status and hepatitis, probably from toxic origin. Dysmorphic features: bilateral ptosis and blpeharophimosis, bilateral epicanthal folds, convergent strabismus, flat and broad nasal bridge, anteverted nares, closed anterior fontanel, hypospadias, bialteral ectopic testis, short neck, dolichocephaly, bitemporal narrowing, retrognathia. Growth parameters: weight of 25.9 kg (25th %ile) and height of 1.30 m (25th %ile). Family history: eldest of two children born from healthy unrelated parents; patient's sister presents with mild intellectual disability and facial dysmorphism; patient's father has a sister with intellectual disability and a brother with two children with intellectual disability.
Moderate intellectual disability
1335174
4822899
3487726
GRCh38
Duplication
Yes
deemer_12_DD/ID_discovery_cases-patient9
12.5 yrs.
M
Intellectual disability and behavioral problems
Referred to genetic department at age of 7 years for intellectual disability and behavioral problems. Birth/neonatal history: birth weight and lenght both 50th %ile, head circumference 75th %ile; neonatal examination showed bilateral inguinal hernia, cleft plate, and micrognathia. Developmental milestones: walked at 18 months. Language and communication evaluation: poor vocabulary with only a few words. Motor and musculoskeletal evaluation: long fingers, clinodactyly of fingers II, camptodactyly of fingers IV, proximally implanted thumbs. Behavioral/psychiatric evaluation: marked behavioral problems with inappropriate social behaviors. Brain imaging: normal. Dysmorphic features: round and flat face, small and upslanting palpebral fissures, bilateral ptosis, divergent strabismus, broad nose, thick alae nasi, thin upper lip, microretrognathia, cleft palate (repaired), short neck, hypopigmented skin and hair, retinal depigmentation. Growth parameters: height of 151 cm (50th %ile) and weight of 42 kg (50th %ile) at 12.5 years. Family history: adopted; parents unavailable for testing and family history not available.
Mild-moderate intellectual disability
1334174
4823099
3488926
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300135
N/A
F
Developmental delay/intellectual disability
6831090
6958382
127293
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300576
N/A
F
Developmental delay/intellectual disability
3461539
3781321
319783
GRCh38
Deletion
Yes
eisfeldt_24_ASD_discovery_cases-caseFam5-1
M
ASD
Proband diagnosed with autism spectrum disorder (met ADI-R or ADOS criteria or received a clinical diagnosis from an expert physician following DSM-IV or DSM-5 criteria). This proband also presented with a Wechsler IQ score of 117. Family history was N/A; the presence of this rearrangment in an unaffected sibling was not determined. Copy number profile for the complex genomic rearrangment (CGR) identified in this individual was triplication-quintuplication-triplication, and HGVS annotation for this CGR was chr16:g.3899656_qterdelins[chr16:g.3689871_3762460inv;chr16:g.3688503_3899656;chr16:g.3689781_3762460inv;chr16:g.3688503_qter].
3638502
3849655
211154
GRCh38
Triplication
Yes
eisfeldt_24_ASD_discovery_cases-caseFam5-1
M
ASD
Proband diagnosed with autism spectrum disorder (met ADI-R or ADOS criteria or received a clinical diagnosis from an expert physician following DSM-IV or DSM-5 criteria). This proband also presented with a Wechsler IQ score of 117. Family history was N/A; the presence of this rearrangment in an unaffected sibling was not determined. Copy number profile for the complex genomic rearrangment (CGR) identified in this individual was triplication-quintuplication-triplication, and HGVS annotation for this CGR was chr16:g.3899656_qterdelins[chr16:g.3689871_3762460inv;chr16:g.3688503_3899656;chr16:g.3689781_3762460inv;chr16:g.3688503_qter].
3639780
3712459
72680
GRCh38
Triplication
No
elalaoui_21_DD/ID_discovery_cases-case6
3 yrs.
M
Developmental delay and intellectual disability
Developmental milestones: psychomotor delay, speech delay. Motor and musculoskeletal evaluation: broad and angulated thumbs, broad halluces. Additional medical history: urogenital malformation (cryptorchidism), heart malformation (ventricular septal defect, atrial septal defect), feeding difficulties, recurrent pulmonary infections. Dysmorphic features: low anterior hairline, high arched and broad eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, low-set ears, hirsutism, micrognatha, short neck, strabismus, convexed nose, high arched palate. Growth parameters: growth retardation. Family history: only child of non-consanguineous Moroccan parents.
Intellectual disability
3658918
3756510
97593
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13204_883
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
774098
855016
80919
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14116_2080
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5322480
5978450
655971
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14329_4430
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2585106
2630476
45371
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14338_4520
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
675335
1134967
459633
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14370_4830
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4898935
5157301
258367
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16079_1571066001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3013263
3052208
38946
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18085_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3209823
3349012
139190
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3576_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2848355
2951034
102680
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4224_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4941053
5095229
154177
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4430_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1623187
1715231
92045
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0026759
N/A
F
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
2253963
2295741
41779
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000010
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S14
N/A
234431
293758
59328
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1091304
Autism
5059873
5174056
114184
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1091304
Autism
6072599
6197543
124945
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1091306
Autism
6072599
6197543
124945
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1601302
Autism
2924869
2963606
38738
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU011005
Autism
3053899
3670579
616681
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU038304
Autism
5124912
5211023
86112
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0934302
Autism
5124912
5430856
305945
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case517-3
6 yrs.
F
ASD
ASD; no other clinical information provided
N/A
793861
1112728
318868
GRCh38
Duplication
Yes
gazzellone_14_ASD_discovery_cases-case517-3
6 yrs.
F
ASD
ASD; no other clinical information provided
N/A
2038390
2365015
326626
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si147
11
M
Autism
ADOS score: 6. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 60.
854582
1324688
470107
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si304
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 48; Non-verbal IQ, 94.
585396
1358325
772930
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case0842
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0843
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0844
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0845
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0846
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0847
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0848
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0849
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0850
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0851
NA
NA
Developmental delay
NA
NA
3699998
3899998
200001
GRCh38
Deletion
NA
girirajan_13b_ASD_discovery_cases-16709111253
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
551637
1123388
571752
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25209111475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
382482
1123388
740907
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9505103679
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
281640
1224335
942696
GRCh38
Duplication
No
granata_25_ASD_discovery_cases-caseA082
M
ASD
Case diagnosed with ASD based on DSM-5 criteria.
6991434
7082675
91242
GRCh38
Deletion
No
gupta_25_ASD_discovery_cases-case19
M
ASD
Case diagnosed with ASD based on DSM-5 criteria.
6864585
6865758
1174
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D1529
23 mos. 15 days
M
Developmental delay and intellectual disability
Facial dysmorphism
Intellectual disability
1933068
2081074
148007
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case15D1529
23 mos. 15 days
M
Developmental delay and intellectual disability
Facial dysmorphism
Intellectual disability
1003514
1216903
213390
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case15D2316
3 yrs. 9 mos.
M
Developmental delay/Intellectual disability and epilepsy
Epilepsy
5320506
5386487
65982
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D1672
6 yrs. 1 mo.
F
Developmental delay/Intellectual disability
Speech delay
1002879
1299822
296944
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseF11
3 yrs. 4 mos.
M
ASD
6274052
6568297
294246
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case11
4 yrs. 3 mos.
M
Autism and intellectual disability
Autism, speech delay, syndactyly
Mild intellectual disability
705100
1044049
338950
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case13
4 yrs. 7 mos.
M
Epilepsy and developmental delay
Speech delay, seizures, macrocephaly, congenital heart defect, optic nerve atrophy, facial dysmorphisms. Karyotype: 9phqh.
Cognitive delay
546000
726000
180001
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case17
4 yrs. 11 mos.
F
Intellectual disability
Speech delay, microcephaly, hypertelorism, syndactyly. Karyotype: 1phqh, 1qh+.
Intellectual disability
2091101
2277411
186311
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case22
1 yr 11 mos.
M
Developmental delay
Congenital heart disease (long QT syndrome). Karyotype: 9phqh, 22ps.
Severe developmental delay
460000
1104048
644049
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case23
4 yrs.
M
Developmental delay/intellectual disability
Facial dysmorphisms, high-arched palate, congenital dislocation of the hip. Karyotype: 1phqh.
Developmental delay/intellectual disability
764190
912809
148620
GRCh38
Duplication
Yes
iourov_12_ASD/ID/EP_discovery_cases-case24
1 yr. 9 mos.
M
Developmental delay
Optic nerve hypoplasia
Developmental delay
3542260
3733072
190813
GRCh38
Duplication
No
itsara_10_ASD_discovery_cases-HI1704
NA
NA
Autism
NA
NA
5994486
6180057
185572
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI5473
NA
NA
Autism
NA
NA
1757779
1804539
46761
GRCh38
Duplication
Yes
jiao_19_EP/DD/ID_discovery_cases-caseDD18012682
2 yrs. 5 mos.
Male
DD and epilepsy/seizures
Developmental milestones: global developmental delay, delayed speech and language development. Motor and musculoskeletal evaluation: motor deterioration. Epilepsy/seizures: seizures (febrile seizures). EEG: EEG abnormality.
60961
543252
482292
GRCh38
Duplication
No
kamien_14_ASD_discovery_cases-case1
6 yrs.
F
ASD
Formal assessment at age of 5 years using ADOS and ADI-R supported a DSM-IV-TR criteria diagnosis of pervasive developmental disorder-not otherwise specificed (PDD-NOS). Birth/neonatal history: born at 40 weeks gestation after uncomplicated pregnancy with no known exposures in utero; birth weight of 3.60 kg (AGA). Developmental milestones: slow developmental progress, particularly speech delay, noted at age of 2 years. Behavioral/psychiatric evaluation: reduced social understanding, features of separation anxiety, generalized anxiety including nail biting and trichotillomania, sensitivity to loud noises, tactile defensiveness, rituals, need for routine, poor attention. Other features: recurrent acute and chronic otitis media requiring grommet insertion at age of 2 years and 4 years (formal hearing assessment after 2nd set of grommets was normal); normal investigations for urine amino acid, organic acid and glycosaminoglycan profiles, and fragile X analysis. Dysmorphic features: mildly downslanting palpebral fissures, autoimmune vitiligo. Growth parameters: height of 112 cm (25th %ile), weight of 20.5 kg (75th %ile), and head circumference of 52.4 cm (75th %ile) at age of 6 years. Family history: father (positive for 16p13.3/RBFOX1 duplication) reported to have mild learning difficulties (no access to further phenotypic information); paternal half-sister (negative for 16p13.3/RBFOX1 duplication) with apparently normal intellect; 10-month-old paternal half-brother (positive for 16p13.3/RBFOX1 duplication) currently meeting developmental milestones.
Weschler Preschool and Primary Scale of Intelligence; third edition (WPPSI-3) assessment at age of 5 years showed verbal IQ of 54 (0.1 %ile) and nonverbal/visual skills of 44 (<0.1 %ile), giving a full scale assessment of 49 in the moderate developmental delay range.
6099355
6298680
199326
GRCh38
Duplication
Yes
kamien_14_ASD_discovery_cases-case2
5 yrs.
M
ASD
Diagnosis of autistic disorder made using ADOS, ADI-R, and DSM-IV-TR criteria performed at age of 4 years, 6 months. Birth/neonatal history: born at 36 weeks gestation after uncomplicated pregnancy with no known exposures in utero; birth weight of 3.33 kg (AGA). Developmental milestones: concerns raised at age of 18 months for speech delay. Behavioral/psychiatric evaluation: anxiety and sensory issues. Other features: normal investigations including fragile X testing and urine metabolic screening. Dysmorphic features: relatively smooth philtrum. Growth parameters: height of 118 cm (97th %ile), weight of 15.0 kg (10th %ile), and head circumference of 51.0 cm (50th %ile) at age of 5 years. Family history: father (positive for 16p13.3/RBFOX1 deletion) with no medical conditions and no reported learning difficulties or social difficulties; maternal and paternal relatives reported ro have significant learning difficulties or ASD, but no testing data available.
Griffith's Developmental assessment at age of 5 years showed cognitive performance of approximately 4 years, 9 months (i.e. within lower end of average range of functioning).
6922276
7003841
81566
GRCh38
Deletion
Yes
kamien_14_ASD_discovery_cases-case3
9 yrs.
M
ASD, ADHD, ODD
Case met DSM-IV-TR criteria for autistic disorder; additional clinical diagnoses of ADHD, oppositional defiant disorder (ODD), and anxiety. Birth/neonatal history: born at 36 weeks gestation after uncomplicated pregnancy (mother took the antidepressant venlafaxine during pregnancy); birth weight of 3.1 kg (AGA). Developmental milestones: history of developmental regression with reduced academic functioning, loss of toilet training, and increased aggression between ages of 7 and 9 years; developmental regression has not continued. EEG: sleep-deprived EEG within normal ranges. Brain imaging: cerebral MRI within normal ranges. Other features: normal ophthalmology review; investigations into serum glucose, lactate, ammonia, creatine kinase, thyroid function, amino acids, transferrin isoforms, 7-dehydrocholestrol, very long chain fatty acids analysis, white cell enzymes, urune amino acid, organic acid profile, glycosaminoglycan screen, creatine studies, and purine/pyrimidine analysis within normal ranges. Dysmorphic features: large frontal incisors. Growth parameters: height of 144 cm (90th %ile), weight of 43 kg (95th %ile), and head circumference of 53.2 cm (50th %ile) at age of 9 years. Family history: mother (positive for 16p13.3/RBFOX1 deletion) with self-reported diagnoses of ADHD, dyslexia, learning difficulties, and mild ASD traits with difficulties in social settings (diagnoses have not been formally assessed); one sister with clinical diagnosis of osteogenesis imperfecta; another sister (negative for 16p13.3/RBFOX1 deletion) with clinical diagnosis of Asperger syndrome and ADHD.
Assessment at age of 9 years using Wechsler Intelligence Scale for Chidren (WISC-IV) showed full-scale IQ score of 79 (8th %ile); in borderline range.
6168639
6244159
75521
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000509
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2046988
2060016
13029
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000936
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
165725
180586
14862
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000940
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3710449
4644951
934503
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001069
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4490463
4815780
325318
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001164
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
129081
168972
39892
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001258
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46766
168972
122207
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001619
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29941
2560460
2530520
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001697
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3493167
3993345
500179
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001753
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3680455
3741327
60873
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001808
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46766
3214623
3167858
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002144
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1278821
1919148
640328
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002281
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1816283
2020966
204684
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002287
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3861794
3904192
42399
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002348
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3750305
3769722
19418
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002474
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
5959600
6121461
161862
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002510
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
239680
589745
350066
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002523
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23141
1773349
1750209
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002557
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1221651
2233773
1012123
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003801
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3607087
3877320
270234
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004078
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152050
180589
28540
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004096
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2494804
3246579
751776
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004122
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
105429
1499893
1394465
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004216
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2089647
2096105
6459
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004357
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2786223
2913719
127497
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004422
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3665835
3727120
61286
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004578
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46766
1997582
1950817
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004596
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2089462
2092132
2671
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004832
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23141
1712523
1689383
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004867
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2717952
4041020
1323069
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004871
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2089462
2092132
2671
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004919
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46566
1800860
1754295
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005347
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2326840
3487106
1160267
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1912
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.
7757373
7776124
18752
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case1983
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.
3707747
3718848
11102
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case2973
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.
3707747
3718728
10982
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case11118.p1
N/A
F
ASD
ASD proband from SSC quad family 11118. SRS score of 80.
Full-scale IQ (FSIQ) score of 93.
4821379
4821597
219
GRCh38
Duplication
No (False Positive)
krumm_13_ASD_discovery_cases-case12735.p1
N/A
M
ASD
ASD proband from SSC quad family 12735. SRS score of 90.
Full-scale IQ (FSIQ) score of 55.
3057032
3069355
12324
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12826.p1
N/A
F
ASD
ASD proband from SSC quad family 12826. SRS score of 90.
Full-scale IQ (FSIQ) score of 66.
404955
411578
6624
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13018.p1
N/A
M
ASD
ASD proband from SSC quad family 13018. SRS score of 76.
Full-scale IQ (FSIQ) score of 78.
4574971
4592367
17397
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case13398.p1
N/A
M
ASD
ASD proband from SSC quad family 13398. SRS score of 90.
Full-scale IQ (FSIQ) score of 75.
2966324
3050546
84223
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13512.p1
N/A
M
ASD
ASD proband from SSC quad family 13512. SRS score of 83.
Full-scale IQ (FSIQ) score of 110.
4340318
4341504
1187
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11296.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3029544
3050144
20601
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11417.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type: N/A
2054295
2055521
1227
GRCh38
N/A
Yes
krumm_15_ASD_discovery_cases-case11435.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
47429
1258406
1210978
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11464.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
3655373
3666118
10746
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11981.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1857734
1862118
4385
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12370.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1781357
1809833
28477
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12404.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
2948687
3050144
101458
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12826.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
404955
411578
6624
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12931.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3057309
3069355
12047
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13018.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
4571560
4594803
23244
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13065.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
763232
775664
12433
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13398.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2979602
3030597
50996
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13412.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
768647
813861
45215
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13812.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
3655373
3666118
10746
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13861.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
7518146
7597453
79308
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13973.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3057032
3069355
12324
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14170.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
3057032
3069355
12324
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14247.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
377036
406397
29362
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14343.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3057032
3069355
12324
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0976
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
6759005
6789572
30568
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD1001
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
6759005
6789572
30568
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0402
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
6765959
7040095
274137
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0713
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
6589026
6667451
78426
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1446
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
6765959
6833235
67277
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1585
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
6749242
6851577
102336
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0076
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
7029166
7099643
70478
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0474
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
1138685
1274606
135922
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0603
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
1138685
1325829
187145
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0613
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
6631946
7029167
397222
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1786
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
6622569
6720408
97840
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2138
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
6773908
6978067
204160
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2452
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
6355715
6937802
582088
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2653
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
6360350
6582207
221858
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3257
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
6946801
7178748
231948
GRCh38
Deletion
Yes
lal_13_EP_discovery_cases-caseAo2023
NA
NA
Epilepsy
NA
NA
NA
NA
NA
GRCh37
Deletion
lal_13_EP_discovery_cases-caseD07u0680
16 yrs.
M
Epilepsy
Diagnosis of juvenile myoclonic epilepsy. Myoclonic seizures and generalized tonic-clonic seizures, age at onset of 16 years. Family history: proband's affected mother (epilepsy with generalized tonic-clonic seizures alone) and affected brother (epilepsy with generalized tonic-clonic seizures alone, as well as pervasive developmental disorder/PDD and learning disability) do not carry RBFOX1 deletion.
Learning disability
6984999
7087999
103001
GRCh38
Deletion
Yes
lal_13_EP_discovery_cases-caseD07u5024
NA
NA
Epilepsy
NA
NA
NA
NA
NA
GRCh37
Deletion
lal_13_EP_discovery_cases-caseE103
N/A
F
Epilepsy
Epilepsy/seizures: rolandic epilepsy; nocturnal generalized tonic-clonic seizures; postictal speech arrest. Developmental milestones: normal global development, normal speech acquisition. Family history: sibling with clonic-tonic seizures (EEG trait only), normal global development, and normal speech acquisition.
Normal global development
N/A
N/A
365000
GRCh37
Deletion
Yes
lal_13_EP_discovery_cases-caseEG0369
7 yrs.
F
Epilepsy
Diagnosis of childhood absence epilepsy. Absence seizures, age at onset of 3 years; generalized tonic-clonic seziures, age at onset of 7 years. Other features: neurodevelopmental problems with delayed speech and attention and memory problems. Family history: both the proband's affected mother (childhood absence epilepsy) and decreased maternal uncle (juvenile myoclonic epilepsy) carried RBFOX1 deletion; proband's unaffected brother not tested for RBFOX1 deletion.
Learning disability
5565999
6461999
896001
GRCh38
Deletion
Yes
lal_13_EP_discovery_cases-caseEG0395
3 yrs.
M
Epilepsy
Diagnosis of childhood absence epilepsy. Absence seizures and generalized tonic-clonic seziures, age at onset of 3 years. Family history: no neuropsychiatric disorders.
6658999
6823999
165001
GRCh38
Deletion
Yes
lal_13_EP_discovery_cases-caseEP1613
15 yrs.
M
Epilepsy
Diagnosis of juvenile absence epilepsy. Febrile seizures, age at onset of 1 year; absence seizures and generalized tonic-clonic seizures, age at onset of 15 years. Family history: proband's affected mother (childhood absence epilepsy) and unaffected brother carry RBFOX1 deletion.
6746999
6814999
68001
GRCh38
Deletion
Yes
lal_13_EP_discovery_cases-caseEZ741
NA
NA
Epilepsy
NA
NA
NA
NA
NA
GRCh37
Deletion
lal_13_EP_discovery_cases-caseL2364
14 yrs.
NA
Epilepsy
Diagnosis of juvenile myoclonic epilepsy. Myoclonic seizures and generalized tonic-clonic seizures, age at onset of 14 years. Family history: no neuropsychiatric disorders.
6243999
6343999
100001
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case92
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
620096
678000
57905
GRCh38
Deletion
No
larson_17_ASD_discovery_cases-case93
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
620096
678000
57905
GRCh38
Deletion
No
larson_17_ASD_discovery_cases-case94
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
620096
678000
57905
GRCh38
Deletion
No
larson_17_ASD_discovery_cases-case95
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
620096
678000
57905
GRCh38
Deletion
No
larson_17_ASD_discovery_cases-case96
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
620096
678000
57905
GRCh38
Deletion
No
larson_17_ASD_discovery_cases-case97
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
620096
678000
57905
GRCh38
Deletion
No
larson_17_ASD_discovery_cases-case98
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
620096
678000
57905
GRCh38
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case17
7 yrs.
M
Intellectual disability
Multiple neuromuscular problems
Intellectual disability
499826
995161
495336
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case22
3 yrs.
M
Developmental delay
Developmental delay, dystonia
521141
860738
339598
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case23
14 yrs.
M
Developmental delay
Developmental delay, dystonia
952394
957394
5001
GRCh38
Triplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case32
11 yrs.
F
ASD and intellectual disability
ASD
Intellectual disability
486666
1399861
913196
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case33
4 yrs.
M
Developmental delay
Developmental delay, iron-deficiency anemia
1079251
1467727
388477
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU3531301
N/A
F
ASD
5732999
6837999
1105001
GRCh38
Duplication
No
levchenko_22_DD/ID_discovery_cases-caseD856
NA
F
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder; no additional clinical information was provided.
35880
4969216
4933337
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11435.p1
NA
M
ASD
NA
NA
31530
1265849
1234320
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11502.p1
NA
F
ASD
NA
NA
2599684
2689445
89762
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12154.p1
NA
M
ASD
NA
NA
345989
444447
98459
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12370.p1
NA
M
ASD
NA
NA
1782881
1815512
32632
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case189
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
38164
1066567
1028404
GRCh38
Deletion
No
mahjani_22_OCD/CTD_discovery_cases-case1
NA
F
OCD and bipolar disorder.
Case diagnosed with obsessive compulsive disorder (OCD) at 44 years of age; case also presented with bipolar disorder.
269502
4801861
4532360
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case61
13 yrs.
F
Language delay
Birth history: born at 38 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: overlapping toes (F2 and F4 overlapping F3). Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: neurological anomalies, ocular anomalies. Dysmorphic features: mild proptosis, hypoplastic alae nasi, thin upper lip. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Mild intellectual disability
2473463
3115110
641648
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown55
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
46000
1523998
1477999
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown56
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
46000
1523998
1477999
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown57
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 benign (VOUS-LB)
56271
283799
227529
GRCh38
Duplication
No
martin_07_ASD_discovery_cases-AU077504
12 yrs. 2 mo.
F
Autism
Autism (CARS score of 39.5, ADI-R scores: social 29, communication 29, restricted & repetitive behaviors 10), severe developmental disability, epilepsy, delayed walking with mild residual ataxia, behavioral regression, fluctuating liver function tests, mild cerebellar atrophy. Proband also has de novo translocation between 15p and 16p arms. Proband was also studied in Sebat et al., 2007 article.
Merrill-Palmer ratio IQ=30 (testing at 6 yrs. 2 mo.)
160000
Unknown
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530590
F
Developmental delay and intellectual disability
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249).
1
1510000
1510000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530968
M
Autism and seizures
Autism (HP:0000717), seizure (HP:0001250), abnormal facial shape (HP:0001999)
6010001
7010000
1000000
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case110503
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
6388255
6688545
300291
GRCh38
Deletion
Yes
mucha_18_DD/ID/EP_discovery_cases-case1
13 yrs.
F
Developmental delay and epilepsy/seizures
Birth/neonatal history: born at term after uneventful pregnancy. Developmental milestones: developmental delay. Epilepsy/seizures: cluster of generalized tonic-clonic seizures at 23 months that were treated with levetiracetam and sodium valproate; seizure-free on levetiracetam monotherapy for 5 years. Brain imaging: normal at 5 years. Dysmorphic features: none. Growth parameters: microcephaly (head circumference < 0.4th %ile), height and weight both at 9th %ile. Family history: only child from a non-consanguineous union.
Attends mainstream school with one-to-one support (major difficulties in comprehension and mathematics)
N/A
N/A
259000
GRCh37
Deletion
No
mucha_18_DD/ID/EP_discovery_cases-case2
6 yrs.
M
DD, ADHD, and epilepsy/seizures
Birth/neonatal history: born at term; feeding difficulties, failure to thrive, microcephaly with increased tone. Developmental milestones: early developmental milestones were met normally, but at 6 years, he was not yet toilet trained, speech was limited to single words, and he was able to follow simple verbal commands. Behavioral/psychiatric evaluation: ADHD, insomnia. Epilepsy/seizures: generalized tonic-clonic seizures, atonic seizures, and head drops at 13 months. Dysmorphic features: none. Growth parameters: short stature (height < 5th %ile), head circumference 2nd-5th %ile. Family history: born to nonconsanguineous parents.
N/A
N/A
255000
GRCh37
Deletion
No
mucha_18_DD/ID/EP_discovery_cases-case3
8 yrs.
M
Developmental delay and epilepsy/seizures
Birth/neonatal history: born at term after normal pregnancy; birth weight 25th %ile, height 25th %ile, head circumference 25th %ile. Developmental milestones: developmental delay (sitting at 9 months, walking after 21 months). Motor and musculoskeletal evaluation: hypotonia during early childhood; tapering fingers. Behavioral/psychiatric evaluation: hyperacusis. Epilepsy/seizures: myoclonic astatic seizures at 30 months, subsequently hospitalized for epileptic encephalopathy; seizure-free since age of 5 years with normalization of EEG patterns. Dysmorphic features: prognathism, small teeth with only two permanent teeth. Growth parameters: microcephaly (head circumference < 3rd %ile). Family history: first of three brothers of nonconsanguineous parents. Note: 16p13.3 deletion was not detected in either parent and was present in 83% of patient's cells, suggesting a postzygotic event.
N/A
N/A
504000
GRCh37
Deletion
No
mucha_18_DD/ID/EP_discovery_cases-case4
15.5 yrs.
M
ASD, ADHD, ID, and epilepsy/seizures
Birth/neonatal history: born at term. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: diagnoses of ASD and ADHD; sexualized behavior. Epilepsy/seizures: convulsions of generalized tonic-clonic seizures from 15 months initially associated with febrile illnesses. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: none. Growth parameters: microcephaly (head circumference 2nd %ile), height and weight both > 90th %ile. Family history: born to nonconsanguineous parents.
Mild intellectual disability (IQ 51-62), significant learning difficulties
N/A
N/A
345000
GRCh37
Deletion
No
mucha_18_DD/ID/EP_discovery_cases-case5
17 yrs.
M
Intellectual disability and epilepsy/seizures
Epilepsy/seizures: generalized tonic-clonic seizures at 10 months; myoclonic seizures, atonic seizures, absence seizures. Brain imaging: small stable venous variant observed on MRI at 13 years. Dysmorphic features: posteriorly rotated ears, pointed chin. Growth parameters: short stature (height and weight at 3rd %ile at age of 17 years), microcephaly (head circumference at 2nd %ile at 14 years).
Intellectual disability (< 1st %ile on WISC-IV)
N/A
N/A
221000
GRCh37
Deletion
No
mucha_18_DD/ID/EP_discovery_cases-case6
39 yrs.
M
Intellectual disability and epilepsy/seizures
Behavioral/psychiatric evaluation: significant emotional behavioral concerns with mania and bipolar episodes requiring multiple psychiatric hospitalization. Epilepsy/seizures: generalized tonic-clonic seizures from age of 3 years (well controlled with the exception of breakthrough seizures at 14 and 25 years of age). Brain imaging: thickening of the calvarium and minimal vermian atrophy (possibly secondary to chronic phenytoin use). Visual evaluation: strabismus, vision loss. Additional medical history: multiple dental operations. Dysmorphic features: tubular nose, slightly enlarged testicles. Growth parameters: microcephaly, normal height and weight.
Intellectual disability
N/A
N/A
376000
GRCh37
Deletion
No
mucha_18_DD/ID/EP_discovery_cases-case7
5.5 yrs.
M
DD, ADHD, and epilepsy/seizures
Birth/neonatal history: born after normal pregnancy. Developmental milestones: developmental delay (developmental status at age of 5.5 years was estimated at about 2 years). Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: generalized tonic-clonic seizures. Brain imaging: cerebral and cerebellar atrophy. Visual evaluation: strabimsus, nystagmus. Auditory evaluation: hearing loss. Growth parameters: microcephaly (head circumference 2nd-5th %ile), normal height and weight. Family history: born to healthy nonconsanguineous parents.
N/A
N/A
394000
GRCh37
Deletion
No
mucha_18_DD/ID/EP_discovery_cases-case8
6.5 yrs.
F
Developmental delay and epilepsy/seizures
Birth/neonatal history: born at 32 weeks estimated gestational age via Caesarian section for nonreassuring fetal heart tracing; birth weight 10th %ile, height 10th %ile, Head circumference 50th %ile. Developmental milestones: developmental delay (gross motor and language delay). Epilepsy/seizures: first febrile seizure at 18 months, followed by a cluster of febrile and afebrile tonic seizures at 20 months and 2.4 years; two more seizure cluster of myoclonic seizures. Dysmorphic features: high forehead, long tubular nose with broad nasal ridge, epicanthus. Growth parameters: microcephaly (head circumference < 3rd %ile), height and weight both at 10th %ile.
IQ measured at 58 with the Culture Fair Intelligence Test (CFT-R)
N/A
N/A
205000
GRCh37
Deletion
No
munnich_19_ASD_discovery_cases-case12
N/A
F
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
3781262
3781321
60
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249917
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
1335714
4822958
3487245
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250971
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Depressed/flat nasal bridge, hypertelorism, kyphosis, intellectual disability/developmental delay, prominent ears.
Developmental delay/intellectual disability
1344506
4345975
3001470
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255116
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: intellectual disability/developmental delay
Developmental delay/intellectual disability
43522
2610240
2566719
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256297
N/A
U
MCA
Database: DECIPHER. Indication for study: Atrio-ventricular septal defect, nasal bridge, small mandible
58857
986997
928141
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-257526
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Macrocephaly, intellectual disability/developmental delay, speech delay.
Developmental delay/intellectual disability
1745551
2718152
972602
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-819
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Blepharophimosis/blepharospasm, Camptodactyly/hammer toes, intellectual disability/developmental delay, ptosis of eyelids
Developmental delay/intellectual disability
935716
3874936
2939221
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC18306
N/A
F
MCA
Database: Signature. Indication for study: Cleft Palate, Multiple Congenital Anomalies, arr cgh 9p24.3(RP11-59O6->RP11-443B9)x1
21706
3141284
3119579
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2288
N/A
F
Short stature
Database: Signature. Indication for study: Short Stature
809895
2498968
1689074
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2436
N/A
F
Developmental delay and epilepsy
Database: Signature. Indication for study: Developmental Delay, Seizure Disorder, arr cgh 4q35(RP11-347P3,RP11-706F1,RP11-45F23)x1
809895
5745796
4935902
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2531
N/A
F
MCA
Database: Signature. Indication for study: Multiple congenital anomalies, Seizures, arr cgh 7q36.3(RP11-93F2,RP11-789H4,RP11-1112M14)x1
809895
5745796
4935902
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2938
N/A
M
Dysmorphic features and MCA
Database: Signature. Indication for study: Dysmorphic Features, Tetralogy of Fallot , arr cgh 9q34.3(RP11-48C7->RP11-31M4)x1
809895
2498968
1689074
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC29800
N/A
F
Developmental delay
Database: Signature. Indication for study: Developmental Delay
Developmental delay
21706
7649302
7627597
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC34382
N/A
M
Developmental delay
Database: Signature. Indication for study: Developmental Delay, arr cgh 6p25.3(RP3-416J7->RP11-58P20)x1
Developmental delay
21706
2498968
2477263
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36836
N/A
M
MCA
Database: Signature. Indication for study: Multiple Congenital Anomalies
42132
3126703
3084572
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38246
N/A
M
DD/ID/MCA
Database: Signature. Indication for study: Rocker Bottom Feet, 46,XY,dup(16)(p13.2p13.3)
717554
7089190
6371637
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40429
N/A
F
DD/ID/MCA
Database: Signature. Indication for study: Te Fistula
42132
7432259
7390128
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC41115
N/A
F
Intellectual disability
Database: Signature. Indication for study: Lack of coordination, Severe intellectual disability, Unspecified disorder of metabolism
Severe intellectual disability
1483847
2500745
1016899
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC4733
N/A
M
Dysmorphic features and epilepsy
Database: Signature. Indication for study: Ambiguous Genitalia, Dysmorphic Features, Seizure Disorder
2072655
3970552
1897898
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC48384
N/A
F
Developmental delay
Database: Signature. Indication for study: Developmental Delay
Developmental delay
1937023
2374205
437183
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62115
N/A
F
ASD and developmental delay
Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, Seizure Disorder, Multiple Congenital Anomalies, Autistic Disorder
Developmental delay
47922
6077886
6029965
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC8977
N/A
M
Developmental delay
Database: Signature. Indication for study: Developmental Delay
Developmental delay
21706
4107317
4085612
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient185
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient186
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient187
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient188
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nord_11_ASD_discovery_cases-250-1
ASD
1095803
1129354
33552
Unknown
Deletion
No
panigrahi_24_ASD/DD/ID_discovery_cases-case15
7 yrs.
M
Intellectual disability
Short stature, microcephaly, triangular facies.
Intellectual disability
996099
2081074
1084976
GRCh38
Duplication
No
panigrahi_24_ASD/DD/ID_discovery_cases-case16
6 yrs.
M
Developmental delay and seizures
Global developmental delay, refractory seizures, microcephaly, hypotonia.
1003217
1218271
215055
GRCh38
Duplication
No
peycheva_18_ID/EP_discovery_cases-case424
4 yrs.
F
ID and epilepsy
Language and communication evaluation: delayed speech. Motor and musculoskeletal evaluation: static ataxia, bilateral limb spasticity. Behavioral/psychiatric evaluation: hyperactivity. Epilepsy/seizures: generalized tonic-clonic seizures.
Mild intellectual disability
521779
748340
226562
GRCh38
Deletion
Yes
pfundt_16_NDD_discovery_cases-case10
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: ALG1 deletion
4958316
6317058
1358743
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case16058_1571037001
24 yrs.
M
ASD
Autism, few words, chronic otitis media, no seizures; no problems at birth but large baby (4.59 kg). Family history: both parents unaffected.
Moderate ID (Leiter Brief at 24 y: PIQ 40)
2061229
2089694
28466
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1235A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU056603; NDAR ID NDAR_INVVG057REG)
2586674
2597769
11096
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case03HI2537A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0934302; NDAR ID NDAR_INVMY062BPQ)
5089105
5095516
6412
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI2774A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0994302; NDAR ID NDAR_INVRW825HC4)
3655372
3666120
10749
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI3508B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1364302; NDAR ID NDAR_INVFL271UFE)
1338900
1525328
186429
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0158A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU010904; NDAR ID NDAR_INVWN987FMF)
634524
653672
19149
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
2206084
2208879
2796
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1171A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU023804; NDAR ID NDAR_INVBJ403VYZ)
3057031
3091599
34569
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case103019L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
758920
824148
65229
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case110408
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3047397
3065441
18045
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case131240
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
155524
171978
16455
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case165216L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
3360809
5067433
1706625
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47378
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3693064
3706799
13736
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case59800L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
4554195
4588211
34017
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60965L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
386762
402542
15781
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60973L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3047397
3065441
18045
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case92173L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1805320
1814923
9604
Unknown
Deletion
No
saia_23_TS_discovery_cases-case18
NA
M
Tourette syndrome, ASD, and intellectual disability
Case diagnosed with Tourette syndrome (YGTSS score 25). Motor and musucloskeletal evaluation: pectus excavatum, fifth finger clinodactyly. Behavioral/psychiatric evaluation: autism spectrum disorder (ASD). Dysmorphic features: flat front on the right, low-set ears, horizontal eyelid rhymes, right eyelid ptosis.
Severe intellectual disability
6830889
6958523
127635
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1058-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: unknown.
Developmental delay: yes. Intellectual disability: yes.
93226
137510
44285
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
1202441
1247144
44704
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-323
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
1754356
1791032
36677
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
4074299
4104850
30552
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11032.p1
5.8
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
173619
175654
2036
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
153255
162650
9396
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
4370786
4395326
24541
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
153255
165863
12609
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11056.p1
6.4
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11111.p1
7.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ 100
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11114.p1
8.8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
1239868
1247188
7321
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11152.p1
6.7
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
3164963
3193850
28888
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
3164963
3195766
30804
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11212.p1
16.1
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
2621297
2649782
28486
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11218.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
155036
162650
7615
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
2655415
2675255
19841
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11232.p1
8.7
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11282.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 83
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11334.p1
14.6
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
153255
165863
12609
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11399.p1
11.9
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11414.p1
12.7
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 83; verbal IQ, 80
3696240
3713733
17494
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11425.p1
9.7
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
326781
331927
5147
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
10835
1263636
1252802
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
627629
735279
107651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
1427472
1452863
25392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
505572
554444
48873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
1134967
1221348
86382
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
173619
175654
2036
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
3655014
3668847
13834
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
171058
173676
2619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
173619
175654
2036
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
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11502.p1
16.1
F
Autism
NA
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
2557800
2675255
117456
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11543.p1
16.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11577.p1
14.5
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 100; verbal IQ, 73
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11580.p1
9.7
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 64
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11581.p1
5.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
171058
173676
2619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11642.p1
5.3
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
3576300
3579226
2927
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11721.p1
4.8
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
1944748
1956098
11351
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
173122
175654
2533
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11781.p1
7
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
173626
175654
2029
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11894.p1
5.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
155036
165863
10828
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11894.p1
5.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
1213042
1222038
8997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11933.p1
8.7
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
504458
546762
42305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11933.p1
8.7
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11954.p1
5.3
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 62; verbal IQ, 79
153255
162650
9396
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
1857557
1862020
4464
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
2460602
2466737
6136
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12003.p1
4.3
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
573238
583354
10117
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
700107
735279
35173
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
2315287
2318168
2882
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12050.p1
5.5
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
173626
175654
2029
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
171987
175654
3668
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12093.p1
6
M
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12096.p1
11.7
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
173619
175654
2036
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12152.p1
8.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12162.p1
4.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
2644500
2649782
5283
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12220.p1
14.4
F
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12286.p1
4.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
2639208
2659456
20249
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12370.p1
8.2
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 127; verbal IQ, 123
1778838
1813519
34682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
2947254
3052208
104955
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12477.p1
14.1
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12497.p1
4.6
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12543.p1
8.9
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 67
2607623
2675255
67633
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12566.p1
10.4
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 43
802137
830773
28637
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12579.p1
6.6
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12604.p1
4.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12610.p1
5.4
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
173619
175654
2036
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
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12708.p1
10.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
5486964
5499932
12969
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
1487838
1510193
22356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
774098
802137
28040
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12735.p1
10.7
M
ASD
NA
Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
3059031
3072281
13251
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12735.p1
10.7
M
ASD
NA
Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12796.p1
5.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12931.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 53; verbal IQ, 45
3059031
3072281
13251
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12937.p1
17.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
2934495
2937001
2507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12946.p1
10.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 106
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12979.p1
4.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
173122
175654
2533
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
3426078
3453738
27661
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
4564858
4593451
28594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13019.p1
5.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
173122
175654
2533
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
747571
785298
37728
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13072.p1
15.5
F
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
173626
175654
2029
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13159.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 95; verbal IQ, 55
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13218.p1
6.9
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
3164963
3193850
28888
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
6207541
6225530
17990
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case36
7 yrs.
M
Developmental delay/intellectual disability and ASD
Developmental delay/intellectual disability, ASD
3654208
3666094
11887
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case4
2 yrs.
M
Developmental delay/intellectual disability and ASD
Developmental delay/intellectual disability, ASD
6941420
6986067
44648
GRCh38
Deletion
No
sebat_07_ASD_discovery_cases-AU077504
NA
F
Autism
NA
NA
5992836
6200816
207980
Unknown
Deletion
Yes
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC16
NA
F
Intellectual disability
Hyperactivity, sleep disturbance
Intellectual disability
6321453
6518175
196723
GRCh38
Deletion
No
tammimies_15_ASD_discovery_cases-case3-0313-000
N/A
M
ASD
Speech dyspraxia, immobile soft palate, velopharyngeal insufficiency, Drusen left optic nerve. Dysmorphic features: small mouth, abnormal eyebrows, asymmetric palpebral fissures, malar hypoplasia, square nose, dystrophic nails, dimples over scapulae.
Normal intelligence (IQ of 120)
3370386
5071366
1700981
GRCh38
Duplication
No
tuncay_22_ASD_discovery_cases-caseMC-03-3
NA
F
ASD
Diagnosis of ASD at 7 years. Language and communication evaluation: speech impairment (phonetic, non-verbal). Family history: born to unaffected non-consanguineous parents of South Asian ancestry.
5143621
6573109
1429489
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
2915102
4017601
1102500
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
1022982
1702764
679783
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
1858419
2646432
788014
GRCh38
Deletion
No
verberne_22_ASD/DD/ID_discovery_cases-case518
NA
F
Polycystic kidney disease, subcortical tubers, hypertrophic cardiomyopathy, hypopigmentation
2056892
2081456
24565
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case487
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
10765
60860
50096
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case488
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
4960912
5166717
205806
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case489
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
5582425
5735404
152980
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case490
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
5892658
6950799
1058142
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case491
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
6375428
6455455
80028
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case5-0138-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
3638500
3849499
211000
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-caseAU048206
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
2052500
2089999
37500
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU4399302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
2037000
2097999
61000
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0794-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
6699973
7072768
372796
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0965-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
6627326
6669037
41712
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0138-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
3644758
3848505
203748
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0213-004
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
6241018
6344433
103416
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
bacchelli_20_ASD_discovery_controls-control10013
N/A
F
Control
Control
6841680
6910280
68601
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control20092
N/A
M
Control
Control
6405469
6515649
110181
GRCh38
Deletion
No
brandler_18_ASD_discovery_controls-controlSSC07841
N/A
F
Control
Control from SSC_phase1 cohort
485235
489654
4420
GRCh38
Deletion
Yes
brandler_18_ASD_replication_controls-controlSSC04855
N/A
F
control
Control from SSC_phase2 cohort
2060812
2061573
762
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036018794_
N/A
N/A
Control
No previous psychiatric history
3949583
4083075
133493
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036023398_
N/A
N/A
Control
No previous psychiatric history
774098
835032
60935
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036024081_
N/A
N/A
Control
No previous psychiatric history
1083049
1247188
164140
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB413051_1007853900
N/A
N/A
Control
No previous psychiatric history
3060405
3683733
623329
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB467864_1007874035
N/A
N/A
Control
No previous psychiatric history
2709498
2743531
34034
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB542562_1007854322
N/A
N/A
Control
No previous psychiatric history
5526243
5585802
59560
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB644709_1007846503
N/A
N/A
Control
No previous psychiatric history
75547
137510
61964
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB656745_1007841112
N/A
N/A
Control
No previous psychiatric history
3164963
3195766
30804
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB884589_1007853691
N/A
N/A
Control
No previous psychiatric history
5722479
5806690
84212
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB885849_1007872260
N/A
N/A
Control
No previous psychiatric history
5025541
5281290
255750
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB951788_1007843996
N/A
N/A
Control
No previous psychiatric history
126744
157743
31000
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900270_900270
N/A
N/A
Control
No previous psychiatric history
1364166
1482836
118671
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900304_900304
N/A
N/A
Control
No previous psychiatric history
774098
828324
54227
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900444_900444
N/A
N/A
Control
No previous psychiatric history
5479408
5654840
175433
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900990_900990
N/A
N/A
Control
No previous psychiatric history
5067846
5175060
107215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901062_901062
N/A
N/A
Control
No previous psychiatric history
2848355
2951034
102680
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37904101339
N/A
N/A
Control
Ethnicity: Caucasian
N/A
551637
1257494
705858
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1307
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
3707747
3718848
11102
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1892
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
6836312
7014662
178351
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1932
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
6807461
6838398
30938
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split408
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
2005563
2074219
68657
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control12826.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12826. SRS score of 42.
404955
411578
6624
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13018.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13018. SRS score of 41.
4571560
4592367
20808
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13398.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13398. SRS score of 42.
2964520
3050546
86027
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11391.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
47429
93325
45897
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11979.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3541824
3565036
23213
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12154.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
346147
461497
115351
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12826.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
404955
411578
6624
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12931.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3057309
3069355
12047
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13018.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
4571560
4594803
23244
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13398.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3021554
3030814
9261
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13973.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3057032
3069355
12324
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14343.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3057032
3069355
12324
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON1002
42 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
5120206
5451254
331049
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0005
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
6638297
6813605
175309
GRCh38
Deletion
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0783
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
6144839
6389790
244952
GRCh38
Duplication
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1897
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
6589026
6708633
119608
GRCh38
Deletion
Yes
lal_13_EP_discovery_controls-control310001598
NA
NA
Control
NA
NA
NA
NA
NA
GRCh37
Deletion
No
lal_13_EP_discovery_controls-control310002253
NA
NA
Control
NA
NA
NA
NA
41000
GRCh37
Deletion
No
levy_11_ASD_discovery_controls-12154.s1
NA
F
Control
NA
NA
345989
444447
98459
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12370.s1
NA
F
Control
NA
NA
1782881
1815512
32632
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control35
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control36
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control37
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control38
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control39
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nord_11_ASD_discovery_controls-04C27669
Control
142536
156287
13752
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28486
Control
3644364
3659228
14865
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C35887A
N/A
M
Control
NIMH Control (NIMH ID 74760)
3655372
3666120
10749
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C43337
N/A
M
Control
NIMH Control (NIMH ID 53939)
3655372
3666120
10749
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11027.s1
5.8
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11032.s1
3.7
M
Control (matched sibling)
NA
NA
169745
175654
5910
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11047.s1
12.9
F
Control (matched sibling)
NA
NA
4367179
4395326
28148
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11064.s1
10
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11096.s1
11.7
M
Control (matched sibling)
NA
NA
2607623
2664086
56464
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11114.s1
11.6
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11124.s1
13.3
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
3164963
3193850
28888
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11212.s1
19.2
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11247.s1
4.7
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11263.s1
15.9
F
Control (matched sibling)
NA
NA
2607623
2675255
67633
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11284.s1
7.1
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11291.s1
13.6
F
Control (matched sibling)
NA
NA
171987
177894
5908
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11301.s1
7.2
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11305.s1
18.3
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11339.s1
11.2
M
Control (matched sibling)
NA
NA
155036
165863
10828
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11357.s1
4.7
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11381.s1
7.4
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
2639208
2649782
10575
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11414.s1
14.8
F
Control (matched sibling)
NA
NA
3696240
3713733
17494
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11425.s1
5.5
F
Control (matched sibling)
NA
NA
326781
331927
5147
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
5625043
5632754
7712
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11453.s1
8.8
F
Control (matched sibling)
NA
NA
2460602
2476653
16052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11470.s1
12.2
M
Control (matched sibling)
NA
NA
2644500
2649782
5283
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11497.s1
5.1
M
Control (matched sibling)
NA
NA
611142
749273
138132
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11502.s1
13.2
M
Control (matched sibling)
NA
NA
2601372
2675255
73884
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11509.s1
20.3
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11511.s1
9
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
2648868
2687070
38203
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11629.s1
11
F
Control (matched sibling)
NA
NA
2607623
2649782
42160
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
173122
175654
2533
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11723.s1
4.5
F
Control (matched sibling)
NA
NA
2648868
2649755
888
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
2644500
2682264
37765
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11827.s1
20
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
3164963
3193850
28888
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
2315287
2318168
2882
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11933.s1
6.8
M
Control (matched sibling)
NA
NA
785298
802137
16840
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11933.s1
6.8
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
3543549
3576300
32752
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12150.s1
10.3
F
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12150.s1
10.3
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12185.s1
4.9
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12223.s1
10.9
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12224.s1
6
M
Control (matched sibling)
NA
NA
130720
137510
6791
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
3164963
3193850
28888
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12241.s1
6.2
M
Control (matched sibling)
NA
NA
3159050
3193850
34801
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12272.s1
9.8
F
Control (matched sibling)
NA
NA
562698
583125
20428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12317.s1
10.8
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
153255
162650
9396
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12370.s1
6.3
F
Control (matched sibling)
NA
NA
1778838
1813519
34682
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12383.s1
12.8
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12517.s1
11.7
M
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12575.s1
18.6
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12708.s1
11.8
F
Control (matched sibling)
NA
NA
5486964
5499932
12969
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12836.s1
4.2
M
Control (matched sibling)
NA
NA
173626
175654
2029
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12865.s1
5.8
M
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12871.s1
17.4
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12931.s1
13.6
F
Control (matched sibling)
NA
NA
3059031
3072281
13251
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
173619
175654
2036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
1052701
1087354
34654
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13006.s1
7.5
F
Control (matched sibling)
NA
NA
2648868
2649782
915
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
4564858
4593451
28594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
5468258
5476707
8450
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
6200970
6225530
24561
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family20_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
7082182
7132537
50356
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family20_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
7082182
7132537
50356
GRCh38
Deletion
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_12
N/A
M
Control
N/A
N/A
1060513
1944155
883643
GRCh38
Deletion
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-case145
Unknown
CACNA1H
akter_23_ASD/ADHD/DD/ID_discovery_cases-case81
Unknown
MIR1225,MIR3180-5,MIR4516,PKD1,MIR6511B1,TSC2,RAB26
akter_23_ASD/ADHD/DD/ID_discovery_cases-case95
Unknown
RBFOX1,RNU6-457P
akter_24_ASD/ADHD/DD/ID_discovery_cases-case448
Unknown
ABCA3,DNASE1L2,E4F1,ECI1,SNORD60,CASKIN1,MLST8,TRAF7,PGP,BRICD5,MIR940,MIR1225,MIR3180-5,MIR3677,MIR4516,SNHG19,MIR4717,PKD1,MIR6511B1,TSC2,MIR3677HG,RNPS1,RAB26
annunziata_21_ASD_discovery_cases-caseIB293
qPCR, FISH
Maternal
RBFOX1
asadollahi_14_NDD_discovery_cases-case43552
MLPA
De novo
Unknown
Unknown
NAGPA-AS1,NAGPA,ALG1,C16orf89,SEC14L5
asadollahi_14_NDD_discovery_cases-case71156
MLPA
De novo
Unknown
Unknown
CREBBP
bacchelli_20_ASD_discovery_cases-caseAB41
Paternal
Simplex
RBFOX1
bacchelli_20_ASD_discovery_cases-caseAB74
qPCR
Maternal
Simplex
RBFOX1
bacchelli_20_ASD_discovery_cases-caseAB86
qPCR
Maternal
Simplex
RNU6-457P,RBFOX1
brandler_18_ASD_replication_cases-caseSSC04850
No validation step reported
Paternal
TSC2
bremer_11_ASD_discovery_cases-case4
MLPA, FISH
Unknown
NA
NA
OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,SNRPCP20,MIR8065,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,SRL,RBFOX1
calderoni_20_ASD_discovery_cases-caseP3
qPCR
Maternal
RNU6-457P,RNU6-328P,RBFOX1
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
ELOB
celestino-soper_11_ASD_discovery_cases-11415
Unknown
Simplex
NA
THOC6
chan_22_ASD_discovery_cases-case3-0313-000
Unknown (not maternal)
ATP6V0C,CCNF,CLCN7,ABCA3,ADCY9,DNASE1L2,E4F1,CREBBP,ECI1,DNASE1,SNORA64,SNORD60,CDIP1,SOX8,MSRB1,AMDHD2,PAM16,UBN1,TNFRSF12A,NAGPA,GNG13,KCTD5,ZSCAN32,RBFOX1,HCFC1R1,CRAMP1,ALG1,TBC1D24,CASKIN1,RAB40C,PGAP6,NMRAL1,HS3ST6,CHTF18,TMEM204,LMF1,RPS3AP2,NAA60,ANTKMT,CIAO3,MRPS34,UNKL,METRN,MLST8,CORO7,RPS20P2,LINC00254,THOC6,LINC00235,ROGDI,TPSB2,KREMEN2,MMP25,PRSS22,FAHD1,FLYWCH1,HAGHL,TEDC2,TRAF7,MCRIP2,WDR24,METTL26,PRSS27,NUDT16L1,SLX4,SPSB3,ZSCAN10,JPT2,GLIS2,GNPTG,RHOT2,TIGD7,RPUSD1,GLYR1,ZNF598,FLYWCH2,SEPTIN12,UBALD1,NOXO1,TSR3,PRSS29P,PAQR4,ZG16B,CCDC78,WFIKKN1,PRSS30P,VASN,ANKS3,FBXL16,ZNF597,BICDL2,RNF151,DNAAF8,PRR35,SSTR5-AS1,C16orf89,NLRC3,WDR90,EME2,EEF2KMT,CASP16P,HAGH,IGFALS,GFER,HMOX2,GREP1,PGP,LINC00921,MEIOB,BRICD5,NPW,NHLRC4,C16orf91,PRSS33,JMJD8,C16orf96,PRSS41,PTX4,C1QTNF8,MSLNL,SMIM22,SNORA10,C16orf90,CCDC154,PDPK2P,ABCA17P,MIR662,SNORA78,TPSP2,SNHG9,MIR940,TEDC2-AS1,CEMP1,RPS3AP48,EIF1P4,SRRM2-AS1,NPM1P3,NDUFB10,OR1F1,MEFV,NME3,OR2C1,NTHL1,NTN3,NME4,MIR1225,MTND1P8,MIR3180-5,MIR3177,MIR3677,MIR3178,MTRNR2L4,MIR3176,MMP25-AS1,CORO7-PAM16,MIR4516,LINC01569,ERVK13-1,ZNF213-AS1,SNHG19,RPL23AP86,MIR4717,MIR5587,RNU1-22P,LINC01570,GLIS2-AS1,PKD1,PDPK1,PPL,RPL3L,RPS2,LMF1-AS1,MIR6126,MIR6511B1,MIR6767,MIR8065,MIR6768,MIR6769A,LINC02861,LINC02124,LINC02164,STUB1-DT,PERCC1,RN7SL219P,TSC2,UBE2I,SSTR5,TFAP4,ELOB,TPSAB1,SRL,CAPN15,RN7SL850P,SNRPCP20,RNU7-99P,SUB1P3,MTCO1P28,RNU1-125P,ENPP7P14,MIR3677HG,SNORA3C,CACNA1H,AXIN1,ZNF200,BAIAP3,ZNF213,ZNF75A,ZNF205,ZNF174,CEROX1,PIGQ,ZNF263,IL32,PKMYT1,DNAJA3,SYNGR3,CLDN9,SLC9A3R2,RHBDL1,NUBP2,TRAP1,SEC14L5,RAB11FIP3,CLDN6,TELO2,IFT140,MRPL28,PRSS21,STUB1,MSLN,RNPS1,TBL3,OR1F2P,TPSG1,CLUAP1,TPSD1,ZNF500,MGRN1,RAB26,DECR2,SRRM2,MAPK8IP3
chaves_19_ASD/DD/ID_discovery_cases-case113
Unknown
SNRNP25,HBA2,HBA1,HBQ1,RGS11,ARHGDIG,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,CEROX1,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,PERCC1,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,IL9RP3,POLR3K,RHBDF1,MPG,HBZ,HBM,HBZP1,LUC7L,AXIN1,PGAP6,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,ANTKMT,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,PKD1
chaves_19_ASD/DD/ID_discovery_cases-case115
Unknown
SNRNP25,HBA2,HBA1,HBQ1,RGS11,ARHGDIG,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,CEROX1,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,PERCC1,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,IL9RP3,POLR3K,RHBDF1,MPG,HBZ,HBM,HBZP1,LUC7L,AXIN1,PGAP6,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,ANTKMT,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,PKD1
chaves_19_ASD/DD/ID_discovery_cases-case180
Unknown
RNU7-99P,RBFOX1
chaves_19_ASD/DD/ID_discovery_cases-case319
Unknown
TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,TPSB2,PRSS29P,BAIAP3,GNPTG,CACNA1H,UBE2I
chaves_19_ASD/DD/ID_discovery_cases-case384
Unknown
RBFOX1
chaves_19_ASD/DD/ID_discovery_cases-case444
Unknown
RBFOX1
chaves_19_ASD/DD/ID_discovery_cases-case81
Unknown
LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,CEROX1,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,ANTKMT,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I
chen_17_ASD_discovery_cases-caseU-2015
RT-qPCR
Maternal
RNU7-99P,RNU6-457P,RBFOX1
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3983
Nimblegen aCGH
De novo
Simplex (negative family history)
Segregated
PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,CASP16P,SRL
cuinat_22_DD/ID_discovery_cases-case15
De novo
KREMEN2,PRSS22,FLYWCH1,PRSS27,FLYWCH2,PAQR4,ZG16B,PRSS30P,PRSS33,PRSS41,EIF1P4,SRRM2-AS1,RPL23AP86,ELOB,SNORA3C,PKMYT1,PRSS21,SRRM2
cuinat_22_DD/ID_discovery_cases-case22
De novo
KCTD5,PRSS27,SRRM2-AS1,SRRM2
deemer_12_DD/ID_discovery_cases-patient1
MLPA
De novo
Simplex
Likely segregated
TRAP1,CREBBP,ADCY9
deemer_12_DD/ID_discovery_cases-patient2
qPCR
De novo
Possible simplex
Possibly segregated
DNASE1,TRAP1,CREBBP,ADCY9
deemer_12_DD/ID_discovery_cases-patient3
qPCR
De novo
Simplex
Likely segregated
LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SRL
deemer_12_DD/ID_discovery_cases-patient4
qPCR
De novo
Simplex
Likely segregated
ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,CASP16P
deemer_12_DD/ID_discovery_cases-patient5
FISH
De novo
Simplex
Likely segregated
LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,SRL
deemer_12_DD/ID_discovery_cases-patient6
qPCR
De novo
Simplex
Likely segregated
ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,CASP16P,SRL
deemer_12_DD/ID_discovery_cases-patient7
FISH
De novo
Unknown
Unknown
SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,PKD1,CASP16P
deemer_12_DD/ID_discovery_cases-patient8
qPCR
De novo
Multiplex (sister with mild ID)
Not segregated
TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,PKD1,CASP16P,SRL
deemer_12_DD/ID_discovery_cases-patient9
Unknown
Unknown
Unknown
TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,PKD1,CASP16P,SRL
digregorio_17_DD/ID_discovery_cases-DECIPHER_300135
Unknown
RNU6-457P,RBFOX1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300576
qPCR
Unknown
MIR6126,C16orf90,NAA60,NLRC3,SLX4,CLUAP1,DNASE1,TRAP1,CREBBP
eisfeldt_24_ASD_discovery_cases-caseFam5-1
Digital qPCR
Paternal
Simplex
Unknown
CREBBP,DNASE1,TRAP1
eisfeldt_24_ASD_discovery_cases-caseFam5-1
Paternal
Simplex
Unknown
DNASE1,TRAP1
elalaoui_21_DD/ID_discovery_cases-case6
QMF-PCR
De novo
CREBBP,DNASE1,TRAP1
engchuan_15_ASD_discovery_cases-case13204_883
Unknown
CHTF18,GNG13,MSLNL,RPUSD1,LMF1
engchuan_15_ASD_discovery_cases-case14116_2080
Unknown
MIR8065,LINC01570,RBFOX1
engchuan_15_ASD_discovery_cases-case14329_4430
Unknown
PDPK1,PDPK2P
engchuan_15_ASD_discovery_cases-case14338_4520
Unknown
RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,RPUSD1,LMF1
engchuan_15_ASD_discovery_cases-case14370_4830
Unknown
PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,SEC14L5,ENPP7P14
engchuan_15_ASD_discovery_cases-case16079_1571066001
Unknown
CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,BICDL2,MMP25-AS1,MMP25
engchuan_15_ASD_discovery_cases-case18085_302
Unknown
OR1F2P,LINC00921,TIGD7,ZNF200,MEFV,ZNF75A,ZNF263
engchuan_15_ASD_discovery_cases-case3576_4
Unknown
PRSS22,RPL23AP86,FLYWCH1,FLYWCH2
engchuan_15_ASD_discovery_cases-case4224_1
Unknown
PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,SEC14L5
engchuan_15_ASD_discovery_cases-case4430_1
Unknown
CRAMP1,JPT2,MAPK8IP3
feliciano_19_ASD_discovery_cases-caseSP0026759
Maternal
Simplex
MIR3677,MIR940,MIR4717,RNPS1,ABCA3
null
fitzgerald_14_ASD/DD/ID_discovery_cases-case000010
De novo
Unknown
Unknown
RGS11,PDIA2,ARHGDIG,AXIN1,FAM234A
gai_11_ASD_discovery_cases-AU1091304
Inherited
ALG1, FAM86A
gai_11_ASD_discovery_cases-AU1091304
Inherited
RBFOX1 (intronic)
gai_11_ASD_discovery_cases-AU1091306
Inherited
RBFOX1 (intronic)
gai_11_ASD_discovery_cases-AU1601302
Inherited
FLYWCH1, KREMEN2, PAQR4, PKMYT1
gai_11_ASD_replication_cases-AU011005
Inherited
IL32, ZSCAN10, MGC3771, ZNF205, ZNF213, OR1F1, OR1F2P, ZNF200, MEFV, ZNF263, TIGD7, ZNF75A, OR2C1, ZNF434, ZNF174, ZNF597, NAT15, C16orf90, CLUAP1, NLRC3, BTBD12, DNASE1, TRAP1
gai_11_ASD_replication_cases-AU038304
Inherited
0 genes
gai_11_ASD_replication_cases-AU0934302
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case517-3
qPCR or Taqman assay
De novo
Unknown
Possibly segregated
CHTF18,GNG13,SSTR5,C1QTNF8,LMF1-AS1,SOX8,SSTR5-AS1,LMF1
gazzellone_14_ASD_discovery_cases-case517-3
qPCR or Taqman assay
De novo
Unknown
Possibly segregated
NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,E4F1,ABCA17P,PKD1
girirajan_11_ASD_discovery_cases-Si147
Unknown
Simplex
SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,LMF1,CACNA1H,UBE2I
girirajan_11_ASD_discovery_cases-Si304
Unknown
Simplex
WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I
girirajan_12_ASD/DD/ID_discovery_cases-case0842
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0843
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0844
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0845
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0846
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0847
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0848
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0849
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0850
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0851
NA
Unknown
Unknown
Unknown
TRAP1,CREBBP
girirajan_13b_ASD_discovery_cases-16709111253
Unknown
Unknown
Unknown
PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,WDR90,RPUSD1,LMF1
girirajan_13b_ASD_discovery_cases-25209111475
Unknown
Unknown
Unknown
LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,WDR90,RPUSD1,LMF1
girirajan_13b_ASD_discovery_cases-9505103679
Unknown
Unknown
Unknown
PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,WDR90,RPUSD1,LMF1,CACNA1H
granata_25_ASD_discovery_cases-caseA082
Paternal
RBFOX1,RNU6-328P
gupta_25_ASD_discovery_cases-case19
De novo
Simplex
RBFOX1
han_22_ASD/DD/ID_discovery_cases-case15D1529
Unknown
SNORA64,MSRB1,ZNF598,NOXO1,RNF151,GFER,NPW,SNORA10,SNORA78,SNHG9,NDUFB10,NTHL1,RPL3L,RPS2,RN7SL219P,TSC2,SYNGR3,SLC9A3R2,TBL3
han_22_ASD/DD/ID_discovery_cases-case15D1529
Unknown
SSTR5-AS1,C1QTNF8,SSTR5,CACNA1H
han_22_ASD/DD/ID_discovery_cases-case15D2316
Unknown
RBFOX1,NPM1P3
han_22_ASD/DD/ID_discovery_cases-case16D1672
Unknown
TPSB2,PRSS29P,SSTR5-AS1,C1QTNF8,TPSP2,SSTR5,TPSAB1,CACNA1H,TPSG1,TPSD1
han_22_ASD/DD/ID_discovery_cases-caseF11
Paternal
RBFOX1
iourov_12_ASD/ID/EP_discovery_cases-case11
Unknown
Unknown
Unknown
METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,RPUSD1,LMF1
iourov_12_ASD/ID/EP_discovery_cases-case13
Unknown
Unknown
Unknown
PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,WDR90
iourov_12_ASD/ID/EP_discovery_cases-case17
Unknown
Unknown
Unknown
MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,E4F1,PKD1
iourov_12_ASD/ID/EP_discovery_cases-case22
Unknown
Unknown
Unknown
LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,WDR90,RPUSD1,LMF1
iourov_12_ASD/ID/EP_discovery_cases-case23
FISH
Unknown
Unknown
Unknown
MSLN,MIR662,CHTF18,GNG13,MSLNL,RPUSD1,LMF1
iourov_12_ASD/ID/EP_discovery_cases-case24
Unknown
Unknown
Unknown
NLRC3,SLX4,DNASE1,TRAP1,CREBBP
itsara_10_ASD_discovery_cases-HI1704
aCGH (custom NimbleGen 12 X 135)
De novo
Simplex
RBFOX1
itsara_10_ASD_discovery_cases-HI5473
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
NME3,MRPS34,EME2,IGFALS,MAPK8IP3,SPSB3,NUBP2,HAGH
jiao_19_EP/DD/ID_discovery_cases-caseDD18012682
De novo
Simplex
Segregated
HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,RHBDF1,MPG,HBZ,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,NPRL3,FAM234A
kamien_14_ASD_discovery_cases-case1
FISH or aCGH (Agilent 15K)
Possibly paternal
Paternal
Possibly multi-generational
Unknown
RBFOX1
kamien_14_ASD_discovery_cases-case2
FISH or aCGH (Agilent 15K)
Paternal
Multi-generational
Unknown
RBFOX1
kamien_14_ASD_discovery_cases-case3
FISH or aCGH (Agilent 15K)
Possibly maternal
Maternal
Possibly multi-generational
Not segregated
RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000509
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NTHL1,TSC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000936
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HBA2,HBA1,HBQ1,HBM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000940
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LINC01569,SUB1P3,UBALD1,RN7SL850P,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,SRL
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001069
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,C16orf96,ANKS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001164
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HBZ,HBM,HBZP1,NPRL3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001258
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNRNP25,HBZ,POLR3K,RHBDF1,MPG,HBM,HBZP1,NPRL3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001619
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,IL9RP3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001697
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C16orf90,NLRC3,SLX4,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001753
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TRAP1,CREBBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001808
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,PKD1,CASP16P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002144
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,UBE2I,CCDC154,IFT140,FAHD1,MEIOB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002281
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,FAHD1,MEIOB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002287
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CREBBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002348
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CREBBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002474
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002510
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,FAM234A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002523
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WASIR2,SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IL9RP3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002557
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003801
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SLX4,DNASE1,TRAP1,CREBBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004078
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HBZ,HBA2,HBA1,HBQ1,HBM,HBZP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004096
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,CASP16P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004122
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004216
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1225,PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004357
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNORA3C,EIF1P4,PRSS30P,PRSS22,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,FLYWCH2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004422
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DNASE1,TRAP1,CREBBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004578
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004596
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1225,TSC2,PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004832
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WASIR2,SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,IL9RP3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004867
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,CASP16P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004871
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1225,TSC2,PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004919
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005347
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CASP16P
kanduri_15_ASD_discovery_cases-case1912
Paternal
Unknown
Unknown
RBFOX1
kanduri_15_ASD_discovery_cases-case1983
Paternal
Unknown
Unknown
DNASE1,TRAP1
kanduri_15_ASD_discovery_cases-case2973
Paternal
Unknown
Unknown
DNASE1,TRAP1
krumm_13_ASD_discovery_cases-case11118.p1
Solid phase hybridization (Illumina 1M) (not tested by aCGH)
Maternal
Simplex
Segregated
GLYR1
krumm_13_ASD_discovery_cases-case12735.p1
Paternal
Simplex
Segregated
MMP25-AS1,MMP25,IL32
krumm_13_ASD_discovery_cases-case12826.p1
Maternal
Simplex
Not segregated
NME4,DECR2
krumm_13_ASD_discovery_cases-case13018.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Not segregated
C16orf96
krumm_13_ASD_discovery_cases-case13398.p1
Maternal
Simplex
Not segregated
PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,KREMEN2,BICDL2,MMP25-AS1,MMP25
krumm_13_ASD_discovery_cases-case13512.p1
Paternal
Simplex
Segregated
PAM16,CORO7-PAM16
krumm_15_ASD_discovery_cases-case11296.p1
Illumina 1M
De novo
Simplex
Segregated
BICDL2,MMP25-AS1,MMP25
krumm_15_ASD_discovery_cases-case11417.p1
aCGH
Paternal
Simplex
Unknown
TSC2
krumm_15_ASD_discovery_cases-case11435.p1
Illumina 1M
De novo
Simplex
Segregated
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H
krumm_15_ASD_discovery_cases-case11464.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
DNASE1,TRAP1
krumm_15_ASD_discovery_cases-case11981.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MEIOB
krumm_15_ASD_discovery_cases-case12370.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
EME2,IGFALS,SPSB3,NUBP2,HAGH
krumm_15_ASD_discovery_cases-case12404.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25
krumm_15_ASD_discovery_cases-case12826.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
NME4,DECR2
krumm_15_ASD_discovery_cases-case12931.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MMP25-AS1,MMP25,IL32
krumm_15_ASD_discovery_cases-case13018.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
C16orf96
krumm_15_ASD_discovery_cases-case13065.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MSLN,MIR662,MSLNL
krumm_15_ASD_discovery_cases-case13398.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PKMYT1,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,BICDL2
krumm_15_ASD_discovery_cases-case13412.p1
1M-Duov3
Paternal
Simplex
Segregated
MSLN,MIR662,CHTF18,GNG13,MSLNL,RPUSD1
krumm_15_ASD_discovery_cases-case13812.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
DNASE1,TRAP1
krumm_15_ASD_discovery_cases-case13861.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RBFOX1
krumm_15_ASD_discovery_cases-case13973.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MMP25-AS1,MMP25,IL32
krumm_15_ASD_discovery_cases-case14170.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MMP25-AS1,MMP25,IL32
krumm_15_ASD_discovery_cases-case14247.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
TMEM8A,NME4,DECR2
krumm_15_ASD_discovery_cases-case14343.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MMP25-AS1,MMP25,IL32
kushima_22_ASD_discovery_cases-caseASD0976
qRT-PCR
Unknown
RBFOX1
kushima_22_ASD_discovery_cases-caseASD1001
qRT-PCR
Unknown
RBFOX1
kushima_22_BPD_discovery_cases-caseBD0402
qRT-PCR
Unknown
RBFOX1,RNU6-457P,RNU6-328P
kushima_22_BPD_discovery_cases-caseBD0713
qRT-PCR
Unknown
RBFOX1
kushima_22_BPD_discovery_cases-caseBD1446
qRT-PCR
Unknown
RBFOX1
kushima_22_BPD_discovery_cases-caseBD1585
qRT-PCR
Unknown
RBFOX1
kushima_22_SCZ_discovery_cases-caseSCZ0076
qRT-PCR
Paternal
RBFOX1
kushima_22_SCZ_discovery_cases-caseSCZ0474
qRT-PCR
De novo
TPSB2,PRSS29P,TPSAB1,CACNA1H,TPSG1,TPSD1
kushima_22_SCZ_discovery_cases-caseSCZ0603
qRT-PCR
Unknown
TPSB2,PRSS29P,TPSP2,UBE2I,TPSAB1,CACNA1H,TPSG1,TPSD1
kushima_22_SCZ_discovery_cases-caseSCZ0613
qRT-PCR
Unknown
RBFOX1,RNU6-457P,RNU6-328P,RNU7-99P
kushima_22_SCZ_discovery_cases-caseSCZ1786
qRT-PCR
Unknown
RBFOX1
kushima_22_SCZ_discovery_cases-caseSCZ2138
qRT-PCR
Unknown
RBFOX1,RNU6-457P
kushima_22_SCZ_discovery_cases-caseSCZ2452
qRT-PCR
Unknown
RBFOX1,RNU6-457P,RNU7-99P
kushima_22_SCZ_discovery_cases-caseSCZ2653
qRT-PCR
Unknown
RBFOX1
kushima_22_SCZ_discovery_cases-caseSCZ3257
qRT-PCR
Unknown
RBFOX1,RNU6-328P
lal_13_EP_discovery_cases-caseAo2023
Unknown
Unknown
Unknown
RBFOX1 (intronic)
lal_13_EP_discovery_cases-caseD07u0680
qPCR
Possibly maternal
Paternal
Multiplex
Not segregated
RNU6-328P,RBFOX1
lal_13_EP_discovery_cases-caseD07u5024
Unknown
Unknown
Unknown
RBFOX1 (intronic)
lal_13_EP_discovery_cases-caseE103
qPCR
Unknown
Multiplex
Segregated
RBFOX1
lal_13_EP_discovery_cases-caseEG0369
qPCR
Maternal
Simplex
Possibly segregated
MIR8065,LINC01570,RBFOX1
lal_13_EP_discovery_cases-caseEG0395
qPCR
Maternal
Simplex
Segregated
RNU7-99P,RBFOX1
lal_13_EP_discovery_cases-caseEP1613
qPCR
Maternal
Maternal
Simplex
Not segregated
RNU7-99P,RBFOX1
lal_13_EP_discovery_cases-caseEZ741
Unknown
Unknown
Unknown
RBFOX1 (intronic)
lal_13_EP_discovery_cases-caseL2364
qPCR
Unknown
Unknown
Unknown
RBFOX1
larson_17_ASD_discovery_cases-case92
Unknown
Unknown
WFIKKN1,METTL26,RHBDL1,RAB40C,MCRIP2,RHOT2,WDR90
larson_17_ASD_discovery_cases-case93
Unknown
Unknown
WFIKKN1,METTL26,RHBDL1,RAB40C,MCRIP2,RHOT2,WDR90
larson_17_ASD_discovery_cases-case94
Unknown
Unknown
WFIKKN1,METTL26,RHBDL1,RAB40C,MCRIP2,RHOT2,WDR90
larson_17_ASD_discovery_cases-case95
Unknown
Unknown
WFIKKN1,METTL26,RHBDL1,RAB40C,MCRIP2,RHOT2,WDR90
larson_17_ASD_discovery_cases-case96
Unknown
Unknown
WFIKKN1,METTL26,RHBDL1,RAB40C,MCRIP2,RHOT2,WDR90
larson_17_ASD_discovery_cases-case97
Unknown
Unknown
WFIKKN1,METTL26,RHBDL1,RAB40C,MCRIP2,RHOT2,WDR90
larson_17_ASD_discovery_cases-case98
Unknown
Unknown
WFIKKN1,METTL26,RHBDL1,RAB40C,MCRIP2,RHOT2,WDR90
lee_17_ASD/DD/ID/MCA_discovery_cases-case17
Unknown
LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,WDR90,RPUSD1,LMF1
lee_17_ASD/DD/ID/MCA_discovery_cases-case22
Unknown
LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,WDR90,RPUSD1,LMF1
lee_17_ASD/DD/ID/MCA_discovery_cases-case23
Unknown
LMF1
lee_17_ASD/DD/ID/MCA_discovery_cases-case32
Unknown
LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I
lee_17_ASD/DD/ID/MCA_discovery_cases-case33
Unknown
SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,CACNA1H,UBE2I,CCDC154
leppa_16_ASD_discovery_cases-AU3531301
Paternal
Simplex
Unknown
RNU7-99P,RBFOX1
levchenko_22_DD/ID_discovery_cases-caseD856
Unknown
ARHGDIG,ATP6V0C,CCNF,CLCN7,ABCA3,ADCY9,DNASE1L2,E4F1,CREBBP,ECI1,DNASE1,SNORA64,SNORD60,CDIP1,SOX8,POLR3K,MSRB1,AMDHD2,PAM16,UBN1,TNFRSF12A,GNG13,KCTD5,ZSCAN32,LUC7L,HCFC1R1,CRAMP1,TBC1D24,CASKIN1,RAB40C,PGAP6,NMRAL1,HS3ST6,CHTF18,TMEM204,LMF1,RPS3AP2,NAA60,ANTKMT,CIAO3,MRPS34,UNKL,METRN,RHBDF1,PDIA2,MLST8,CORO7,RPS20P2,LINC00254,THOC6,SNRNP25,LINC00235,ROGDI,TPSB2,KREMEN2,MMP25,PRSS22,FAHD1,FLYWCH1,HAGHL,TEDC2,FAM234A,TRAF7,MCRIP2,WDR24,METTL26,PRSS27,NUDT16L1,SLX4,SPSB3,ZSCAN10,JPT2,GLIS2,GNPTG,RHOT2,TIGD7,RPUSD1,GLYR1,ZNF598,FLYWCH2,SEPTIN12,UBALD1,NOXO1,TSR3,PRSS29P,PAQR4,ZG16B,CCDC78,WFIKKN1,PRSS30P,VASN,ANKS3,FBXL16,ZNF597,BICDL2,RNF151,DNAAF8,PRR35,SSTR5-AS1,NLRC3,WDR90,EME2,CASP16P,HBZ,HBA2,HAGH,IGFALS,GFER,HBA1,HBAP1,HBZP1,HMOX2,HBQ1,HBM,GREP1,PGP,LINC00921,MEIOB,BRICD5,NPW,NHLRC4,C16orf91,PRSS33,JMJD8,C16orf96,PRSS41,PTX4,C1QTNF8,MSLNL,SMIM22,SNORA10,C16orf90,CCDC154,PDPK2P,ABCA17P,MIR662,SNORA78,TPSP2,SNHG9,MIR940,TEDC2-AS1,IL9RP3,CEMP1,EIF1P4,SRRM2-AS1,NDUFB10,OR1F1,MEFV,NME3,OR2C1,NTHL1,NTN3,MPG,NME4,MIR1225,MTND1P8,MIR3180-5,MIR3177,MIR3677,MIR3178,MTRNR2L4,MIR3176,MMP25-AS1,CORO7-PAM16,MIR4516,LINC01569,ERVK13-1,ZNF213-AS1,SNHG19,RPL23AP86,MIR4717,MIR5587,RNU1-22P,GLIS2-AS1,PKD1,PDPK1,PPL,RPL3L,RPS2,LMF1-AS1,MIR6126,MIR6511B1,MIR6767,MIR6768,MIR6769A,LINC02861,LINC02124,STUB1-DT,PERCC1,RN7SL219P,TSC2,UBE2I,SSTR5,TFAP4,ELOB,TPSAB1,SRL,CAPN15,RN7SL850P,SUB1P3,MTCO1P28,RNU1-125P,MIR3677HG,SNORA3C,CACNA1H,AXIN1,ZNF200,BAIAP3,ZNF213,NPRL3,RGS11,ZNF75A,ZNF205,ZNF174,CEROX1,PIGQ,ZNF263,IL32,PKMYT1,DNAJA3,SYNGR3,CLDN9,SLC9A3R2,RHBDL1,NUBP2,TRAP1,SEC14L5,RAB11FIP3,CLDN6,TELO2,IFT140,MRPL28,PRSS21,STUB1,MSLN,RNPS1,TBL3,OR1F2P,TPSG1,CLUAP1,TPSD1,ZNF500,MGRN1,RAB26,DECR2,SRRM2,MAPK8IP3
levy_11_ASD_discovery_cases-11435.p1
De novo
Simplex
Segregated
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,IL9RP3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H
levy_11_ASD_discovery_cases-11502.p1
Maternal
Simplex
Segregated
PDPK1,ERVK13-1,KCTD5,PDPK2P
levy_11_ASD_discovery_cases-12154.p1
Paternal
Simplex
Not segregated
MRPL28,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3
levy_11_ASD_discovery_cases-12370.p1
Maternal
Simplex
Not segregated
IGFALS,SPSB3,NUBP2,HAGH
mahjani_21_ASD_discovery_cases-case189
Unknown
ARHGDIG,GNG13,POLR3K,SOX8,LUC7L,PGAP6,RAB40C,CHTF18,LMF1,CIAO3,ANTKMT,PDIA2,METRN,RHBDF1,SNRNP25,LINC00235,FAM234A,METTL26,HAGHL,MCRIP2,WDR24,RPUSD1,RHOT2,WFIKKN1,CCDC78,SSTR5-AS1,PRR35,FBXL16,WDR90,HBM,HBQ1,HBZ,HBA1,HBAP1,HBZP1,HBA2,NHLRC4,JMJD8,MSLNL,MIR662,IL9RP3,MPG,NME4,MIR3176,MIR5587,LMF1-AS1,STUB1-DT,CAPN15,AXIN1,RGS11,NPRL3,CEROX1,PIGQ,RHBDL1,RAB11FIP3,MSLN,MRPL28,STUB1,DECR2
mahjani_22_OCD/CTD_discovery_cases-case1
Unknown
ARHGDIG,ATP6V0C,CCNF,CLCN7,ABCA3,ADCY9,DNASE1L2,E4F1,CREBBP,ECI1,DNASE1,SNORA64,SNORD60,CDIP1,SOX8,MSRB1,AMDHD2,PAM16,TNFRSF12A,GNG13,KCTD5,ZSCAN32,HCFC1R1,CRAMP1,TBC1D24,CASKIN1,RAB40C,PGAP6,NMRAL1,HS3ST6,CHTF18,TMEM204,LMF1,RPS3AP2,NAA60,ANTKMT,CIAO3,MRPS34,UNKL,METRN,PDIA2,MLST8,CORO7,RPS20P2,LINC00254,THOC6,LINC00235,ROGDI,TPSB2,KREMEN2,MMP25,PRSS22,FAHD1,FLYWCH1,HAGHL,TEDC2,FAM234A,TRAF7,MCRIP2,WDR24,METTL26,PRSS27,NUDT16L1,SLX4,SPSB3,ZSCAN10,JPT2,GLIS2,GNPTG,RHOT2,TIGD7,RPUSD1,ZNF598,FLYWCH2,SEPTIN12,UBALD1,NOXO1,TSR3,PRSS29P,PAQR4,ZG16B,CCDC78,WFIKKN1,PRSS30P,VASN,ANKS3,FBXL16,ZNF597,BICDL2,RNF151,DNAAF8,PRR35,SSTR5-AS1,NLRC3,WDR90,EME2,CASP16P,HAGH,IGFALS,GFER,HMOX2,GREP1,PGP,LINC00921,MEIOB,BRICD5,NPW,NHLRC4,C16orf91,PRSS33,JMJD8,C16orf96,PRSS41,PTX4,C1QTNF8,MSLNL,SMIM22,SNORA10,C16orf90,CCDC154,PDPK2P,ABCA17P,MIR662,SNORA78,TPSP2,SNHG9,MIR940,TEDC2-AS1,CEMP1,EIF1P4,SRRM2-AS1,NDUFB10,OR1F1,MEFV,NME3,OR2C1,NTHL1,NTN3,NME4,MIR1225,MTND1P8,MIR3180-5,MIR3177,MIR3677,MIR3178,MTRNR2L4,MIR3176,MMP25-AS1,CORO7-PAM16,MIR4516,LINC01569,ERVK13-1,ZNF213-AS1,SNHG19,RPL23AP86,MIR4717,MIR5587,RNU1-22P,GLIS2-AS1,PKD1,PDPK1,RPL3L,RPS2,LMF1-AS1,MIR6126,MIR6511B1,MIR6767,MIR6768,MIR6769A,LINC02861,LINC02124,STUB1-DT,PERCC1,RN7SL219P,TSC2,UBE2I,SSTR5,TFAP4,ELOB,TPSAB1,SRL,CAPN15,RN7SL850P,SUB1P3,MTCO1P28,RNU1-125P,MIR3677HG,SNORA3C,CACNA1H,AXIN1,ZNF200,BAIAP3,ZNF213,RGS11,ZNF75A,ZNF205,ZNF174,CEROX1,PIGQ,ZNF263,IL32,PKMYT1,DNAJA3,SYNGR3,CLDN9,SLC9A3R2,RHBDL1,NUBP2,TRAP1,RAB11FIP3,CLDN6,TELO2,IFT140,MRPL28,PRSS21,STUB1,MSLN,RNPS1,TBL3,OR1F2P,TPSG1,CLUAP1,TPSD1,ZNF500,MGRN1,RAB26,DECR2,SRRM2,MAPK8IP3
maini_18_ASD/DD/ID_discovery_cases-case61
De novo
Simplex
Possibly segregated
ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2
maini_18_ASD/DD/ID_discovery_cases-case_unknown55
De novo
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140
maini_18_ASD/DD/ID_discovery_cases-case_unknown56
De novo
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140
maini_18_ASD/DD/ID_discovery_cases-case_unknown57
Paternal
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,NPRL3,FAM234A
martin_07_ASD_discovery_cases-AU077504
qPCR
Paternal
Simplex
NA
RBFOX1
Reduced expression of RBFOX1 isoforms 1-4
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530590
Unknown
ARHGDIG,CLCN7,SOX8,POLR3K,GNG13,LUC7L,RAB40C,PGAP6,CHTF18,LMF1,RPS3AP2,ANTKMT,CIAO3,UNKL,METRN,RHBDF1,PDIA2,RPS20P2,SNRNP25,LINC00235,TPSB2,HAGHL,FAM234A,MCRIP2,WDR24,METTL26,GNPTG,RHOT2,RPUSD1,TSR3,PRSS29P,CCDC78,WFIKKN1,FBXL16,PRR35,SSTR5-AS1,WDR90,HBZ,HBA2,HBA1,HBAP1,HBZP1,HBQ1,HBM,NHLRC4,C16orf91,JMJD8,WASH4P,PTX4,C1QTNF8,MSLNL,CCDC154,MIR662,TPSP2,IL9RP3,MPG,NME4,WASIR2,DDX11L10,MIR3176,MIR5587,LMF1-AS1,MIR6859-4,STUB1-DT,PERCC1,UBE2I,SSTR5,TPSAB1,CAPN15,CACNA1H,AXIN1,BAIAP3,NPRL3,RGS11,CEROX1,PIGQ,RHBDL1,RAB11FIP3,TELO2,MRPL28,STUB1,MSLN,TPSG1,TPSD1,DECR2
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530968
Unknown
RBFOX1,RNU6-457P,RNU6-328P,RNU7-99P
mosca_16_DCD_discovery_cases-case110503
qPCR
Maternal
Multi-generational
Not segregated
RBFOX1
mucha_18_DD/ID/EP_discovery_cases-case1
CNV validation not reported
Unknown (not maternal)
ABCA3,ABCA17P,CCNF,C16orf59,NTN3,TBC1D24,ATP6V0C,AMDHD2,CEMP1,MIR3168,PDPK1,DQ577714 (Note: CNV gene content extracted from supplementary material; no CNV coordinates were provided in this report)
mucha_18_DD/ID/EP_discovery_cases-case2
CNV validation not reported
De novo
TBC1D24,ATP6V0C,AMDHD2,CEMP1,MIR3168,PDPK1,DQ577714,AX748261,LOC652276,AK056253,FLJ42627,ERVK13-1,KCTD5,PRSS27,SRRM2-AS1,SRRM2,TCEB2,PRSS33,PRSS41 (Note: CNV gene content extracted from supplementary material; no CNV coordinates were provided in this report)
mucha_18_DD/ID/EP_discovery_cases-case3
CNV validation not reported
De novo mosaic
CASKIN1,MLST8,BRICD5,PGP,E4F1,DNASE1L2,ECI1,RNPS1,MIR3677,MIR940,MIR4717,ABCA3,ABCA17P,CCNF,C16orf59,NTN3,TBC1D24,ATP6V0C,AMDHD2,CEMP1,MIR3168,PDPK1,DQ577714,AX748261,LOC652276,AK056253,FLJ42627,ERVK13-1 (Note: CNV gene content extracted from supplementary material; no CNV coordinates were provided in this report)
mucha_18_DD/ID/EP_discovery_cases-case4
CNV validation not reported
De novo
ABCA3,ABCA17P,CCNF,C16orf59,NTN3,TBC1D24,ATP6V0C,AMDHD2,CEMP1,MIR3168,PDPK1,DQ577714,AX748261,LOC652276,AK056253,FLJ42627,ERVK13-1 (Note: CNV gene content extracted from supplementary material; no CNV coordinates were provided in this report)
mucha_18_DD/ID/EP_discovery_cases-case5
CNV validation not reported
De novo
ABCA17P,CCNF,C16orf59,NTN3,TBC1D24,ATP6V0C,AMDHD2,CEMP1,MIR3168,PDPK1,DQ577714,AX748261,LOC652276,AK056253,FLJ42627,ERVK13-1 (Note: CNV gene content extracted from supplementary material; no CNV coordinates were provided in this report)
mucha_18_DD/ID/EP_discovery_cases-case6
CNV validation not reported
De novo
ABCA17P,CCNF,C16orf59,NTN3,TBC1D24,ATP6V0C,AMDHD2,CEMP1,MIR3168,PDPK1,DQ577714,AX748261,LOC652276,AK056253,FLJ42627,ERVK13-1,KCTD5,PRSS27,SRRM2-AS1,SRRM2,TCEB2 (Note: CNV gene content extracted from supplementary material; no CNV coordinates were provided in this report)
mucha_18_DD/ID/EP_discovery_cases-case7
CNV validation not reported
De novo
ABCA17P,CCNF,C16orf59,NTN3,TBC1D24,ATP6V0C,AMDHD2,CEMP1,MIR3168,PDPK1,DQ577714,AX748261,LOC652276,AK056253,FLJ42627,ERVK13-1,KCTD5,PRSS27,SRRM2-AS1,SRRM2,TCEB2 (Note: CNV gene content extracted from supplementary material; no CNV coordinates were provided in this report)
mucha_18_DD/ID/EP_discovery_cases-case8
CNV validation not reported
De novo
ABCA17P,CCNF,C16orf59,NTN3,TBC1D24,ATP6V0C,AMDHD2,CEMP1,MIR3168,PDPK1,DQ577714,AX748261,LOC652276 (Note: CNV gene content extracted from supplementary material; no CNV coordinates were provided in this report)
munnich_19_ASD_discovery_cases-case12
FISH
Unknown
CREBBP
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249917
De novo
Unknown
Possibly segregated
TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,PKD1,CASP16P,SRL
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250971
Unknown
Unknown
Unknown
TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,PKD1,CASP16P,SRL
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255116
De novo
Unknown
Possibly segregated
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256297
Unknown
Unknown
Unknown
HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,NPRL3,FAM234A,WDR90,RPUSD1,LMF1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-257526
De novo
Unknown
Possibly segregated
NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-819
Unknown
Unknown
Unknown
SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,PKD1,CASP16P
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC18306
FISH
Maternal (balanced carrier)
Unknown
Unknown
WASIR2,SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,IL9RP3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2288
FISH
Unknown
Unknown
Unknown
SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2436
FISH
De novo
Unknown
Possibly segregated
SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,SNRPCP20,MIR8065,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,PKD1,CASP16P,SRL,RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2531
FISH
Unknown
Unknown
Unknown
SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,SNRPCP20,MIR8065,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,PKD1,CASP16P,SRL,RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2938
FISH
Maternal (balanced carrier)
Unknown
Unknown
SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC29800
FISH
Unknown
Unknown
Unknown
WASIR2,SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,SNRPCP20,MIR8065,RNU7-99P,RNU6-457P,RNU6-328P,IL9RP3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,PKD1,CASP16P,SRL,RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC34382
FISH
De novo
Unknown
Possibly segregated
WASIR2,SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,IL9RP3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36836
FISH
Maternal (balanced carrier)
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38246
FISH
De novo
Unknown
Possibly segregated
METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,SNRPCP20,MIR8065,RNU7-99P,RNU6-457P,RNU6-328P,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,PKD1,CASP16P,SRL,RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40429
FISH
Unknown
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,SNRPCP20,MIR8065,RNU7-99P,RNU6-457P,RNU6-328P,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,PKD1,CASP16P,SRL,RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC41115
FISH
Unknown
Unknown
Unknown
PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC4733
FISH
De novo
Unknown
Possibly segregated
MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,PKD1,CASP16P
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC48384
FISH
Unknown
Unknown
Unknown
MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,E4F1,ABCA17P,PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62115
FISH
De novo
Unknown
Possibly segregated
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,SNRPCP20,MIR8065,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,PKD1,CASP16P,SRL,RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC8977
FISH
Unknown
Unknown
Unknown
WASIR2,SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,IL9RP3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,PKD1,CASP16P
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient185
Unknown
Unknown
Unknown
Minimum CNV gene content: RNPS1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient186
Unknown
Unknown
Unknown
Minimum CNV gene content: RNPS1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient187
Unknown
Unknown
Unknown
Minimum CNV gene content: RNPS1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient188
Unknown
Unknown
Unknown
Minimum CNV gene content: RNPS1
nord_11_ASD_discovery_cases-250-1
Maternal
0 genes
panigrahi_24_ASD/DD/ID_discovery_cases-case15
Unknown
CLCN7,SNORA64,MSRB1,CRAMP1,HS3ST6,TMEM204,RPS3AP2,MRPS34,UNKL,RPS20P2,LINC00254,TPSB2,FAHD1,SPSB3,JPT2,GNPTG,ZNF598,NOXO1,TSR3,PRSS29P,RNF151,SSTR5-AS1,EME2,HAGH,IGFALS,GFER,MEIOB,NPW,C16orf91,PTX4,C1QTNF8,SNORA10,CCDC154,SNORA78,TPSP2,SNHG9,NDUFB10,NME3,NTHL1,MIR3177,RPL3L,RPS2,LINC02124,PERCC1,RN7SL219P,TSC2,UBE2I,SSTR5,TPSAB1,CACNA1H,BAIAP3,SYNGR3,SLC9A3R2,NUBP2,TELO2,IFT140,TBL3,TPSG1,TPSD1,MAPK8IP3
panigrahi_24_ASD/DD/ID_discovery_cases-case16
Unknown
SSTR5-AS1,C1QTNF8,SSTR5,CACNA1H
peycheva_18_ID/EP_discovery_cases-case424
qPCR
Unknown
LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,WDR90
pfundt_16_NDD_discovery_cases-case10
LINC02164,SNRPCP20,MIR8065,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,SEC14L5,ENPP7P14,RBFOX1
pinto_14_ASD_discovery_cases2-case16058_1571037001
qPCR
Paternal
Multiplex
Unknown (brother with autism and 2 unaffected sisters, not tested)
TSC2,PKD1
poultney_13_ASD_discovery_cases-case00HI1235A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PDPK1
poultney_13_ASD_discovery_cases-case03HI2537A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
EEF2KMT
poultney_13_ASD_discovery_cases-case04HI2774A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DNASE1,TRAP1
poultney_13_ASD_discovery_cases-case04HI3508B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TSR3,C16orf91,RPS3AP2,PTX4,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,CCDC154,IFT140
poultney_13_ASD_discovery_cases-case98HI0158A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
METTL26,MCRIP2,WDR90
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MLST8
poultney_13_ASD_discovery_cases-case99HI1171A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU1-125P,RNU1-22P,MMP25-AS1,MMP25,IL32,ZSCAN10
prasad_12_ASD_discovery_cases-case103019L
Unknown
Unknown
Unknown
GNG13,MIR662,MSLNL,RPUSD1,CHTF18,PRR25
prasad_12_ASD_discovery_cases-case110408
qPCR
Maternal
Multiplex
Segregated
MMP25,IL32
prasad_12_ASD_discovery_cases-case131240
Unknown
Unknown
Unknown
HBM,HBA1,HBA2,HBQ1
prasad_12_ASD_discovery_cases-case165216L
Unknown
Unknown
Unknown
CLUAP1,NAGPA,CORO7-PAM16,GLIS2,ALG1,ROGDI,SEC14L5,C16orf5,ZNF597,NUDT16L1,GLYR1,LOC440335,UBN1,CORO7,C16orf89,LOC342346,SLX4,TRAP1,DNASE1,PPL,ZNF434,PAM16,ANKS3,FAM100A,NLRC3,MTRNR2L4,C16orf71,VASN,NMRAL1,SRL,NAT15,DNAJA3,TFAP4,ZNF174,ADCY9,HMOX2,C16orf90,ZNF500,SEPT12,MGRN1,CREBBP
prasad_12_ASD_discovery_cases-case47378
qPCR
Maternal
Unknown
Unknown
TRAP1
prasad_12_ASD_discovery_cases-case59800L
Unknown
Simplex
Unknown
LOC342346
prasad_12_ASD_discovery_cases-case60965L
Unknown
Unknown
Unknown
NME4,DECR2
prasad_12_ASD_discovery_cases-case60973L
qPCR
Maternal
Multiplex
Not segregated (deletion present in unaffected sibling)
MMP25,IL32
prasad_12_ASD_discovery_cases-case92173L
Unknown
Unknown
Unknown
HAGH
saia_23_TS_discovery_cases-case18
MLPA, RT-PCR
Paternal
RBFOX1,RNU6-457P
sajan_13_ACC/CBLH/PMG_discovery_cases-case1058-0
Not tested by qPCR
Unknown
Unknown
Unknown
NPRL3
sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
TPSG1,TPSAB1,TPSB2,CACNA1H
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-323
Not tested by qPCR
Unknown
Unknown
Unknown
NME3,MRPS34,EME2,IGFALS,MAPK8IP3,SPSB3,NUBP2
sanders_11_ASD_discovery_cases-11001.p1
Maternal
Simplex (trio)
NA
ADCY9
sanders_11_ASD_discovery_cases-11032.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Segregated
HBZ,HBM
sanders_11_ASD_discovery_cases-11041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11047.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CORO7-PAM16,CORO7,VASN
sanders_11_ASD_discovery_cases-11048.p1
Paternal
Simplex (quad-proband matched)
Segregated
HBZ,HBM,HBZP1
sanders_11_ASD_discovery_cases-11056.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11111.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11114.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11115.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TPSAB1
sanders_11_ASD_discovery_cases-11124.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11152.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11158.p1
Both parents
Simplex (quad-proband matched)
Segregated
HBA2
sanders_11_ASD_discovery_cases-11172.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11202.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11212.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PDPK2P
sanders_11_ASD_discovery_cases-11218.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBM
sanders_11_ASD_discovery_cases-11229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ERVK13-1
sanders_11_ASD_discovery_cases-11232.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11246.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11282.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11334.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11350.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HBZ,HBM,HBZP1
sanders_11_ASD_discovery_cases-11399.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11414.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRAP1
sanders_11_ASD_discovery_cases-11425.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AXIN1
sanders_11_ASD_discovery_cases-11435.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
DDX11L10,MIR6859-4,WASIR2,SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,WASH4P,IL9RP3,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H
sanders_11_ASD_discovery_cases-11439.p1
Unknown
Simplex (quad-proband matched)
Not segregated
WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,WDR90
sanders_11_ASD_discovery_cases-11439.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCN7,CCDC154
sanders_11_ASD_discovery_cases-11439.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC00235,MIR5587,MIR3176,RAB11FIP3,CAPN15
sanders_11_ASD_discovery_cases-11439.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CACNA1H
sanders_11_ASD_discovery_cases-11447.p1
Both parents
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
DNASE1,TRAP1
sanders_11_ASD_discovery_cases-11473.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11475.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11485.p1
Both parents
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11491.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11502.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PDPK1,ERVK13-1,PDPK2P
sanders_11_ASD_discovery_cases-11543.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Both parents
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11577.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11580.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11592.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11625.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11642.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11691.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLRC3
sanders_11_ASD_discovery_cases-11691.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11721.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11734.p1
Maternal
Simplex (trio)
NA
RPL3L
sanders_11_ASD_discovery_cases-11734.p1
Paternal
Simplex (trio)
NA
HBA2
sanders_11_ASD_discovery_cases-11781.p1
Paternal
Simplex (trio)
NA
HBA2
sanders_11_ASD_discovery_cases-11841.p1
Paternal
Simplex (trio)
NA
HBA2
sanders_11_ASD_discovery_cases-11843.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11846.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11894.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBM,HBZP1
sanders_11_ASD_discovery_cases-11894.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11918.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TPSG1,CACNA1H
sanders_11_ASD_discovery_cases-11933.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC00235,MIR5587,MIR3176,RAB11FIP3,CAPN15
sanders_11_ASD_discovery_cases-11933.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11939.p1
Both parents
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-11954.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBZ,HBM
sanders_11_ASD_discovery_cases-11981.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MEIOB
sanders_11_ASD_discovery_cases-11989.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TEDC2,MIR6768
sanders_11_ASD_discovery_cases-12003.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12007.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PIGQ
sanders_11_ASD_discovery_cases-12019.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12032.p1
Both parents
Simplex (quad-proband matched)
Not segregated
METRN,CCDC78,HAGHL,FBXL16,FAM173A,CIAO3
sanders_11_ASD_discovery_cases-12033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ABCA3
sanders_11_ASD_discovery_cases-12050.p1
Paternal
Simplex (trio)
NA
HBA2
sanders_11_ASD_discovery_cases-12060.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-12093.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12096.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12102.p1
Maternal
Simplex (trio)
NA
HBA2
sanders_11_ASD_discovery_cases-12150.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-12152.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12162.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12208.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-12286.p1
Maternal
Simplex (trio)
NA
PDPK2P
sanders_11_ASD_discovery_cases-12332.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12337.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-12370.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EME2,IGFALS,SPSB3,NUBP2,HAGH
sanders_11_ASD_discovery_cases-12404.p1
Maternal
Simplex (trio)
NA
PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25
sanders_11_ASD_discovery_cases-12424.p1
Both parents
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-12477.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12497.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-12543.p1
Maternal
Simplex (trio)
NA
ERVK13-1,PDPK2P
sanders_11_ASD_discovery_cases-12566.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12579.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12604.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12610.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-12638.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-12648.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-12708.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-12710.p1
Both parents
Simplex (trio)
NA
PTX4,TELO2
sanders_11_ASD_discovery_cases-12710.p1
Both parents
Simplex (trio)
NA
CHTF18,GNG13,MSLNL,RPUSD1
sanders_11_ASD_discovery_cases-12735.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RNU1-125P,MMP25-AS1,MMP25,IL32
sanders_11_ASD_discovery_cases-12735.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12796.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12931.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNU1-125P,MMP25-AS1,MMP25,IL32
sanders_11_ASD_discovery_cases-12937.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FLYWCH1
sanders_11_ASD_discovery_cases-12946.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
HBA2
sanders_11_ASD_discovery_cases-12979.p1
Paternal
Simplex (trio)
NA
HBA2
sanders_11_ASD_discovery_cases-12984.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
ZNF597,NAA60
sanders_11_ASD_discovery_cases-13013.p1
Both parents
Simplex (trio)
NA
HBA2
sanders_11_ASD_discovery_cases-13018.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C16orf96
sanders_11_ASD_discovery_cases-13019.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13056.p1
Maternal
Simplex (trio)
NA
HBA2
sanders_11_ASD_discovery_cases-13065.p1
Maternal
Simplex (trio)
NA
MSLN,MIR662,MSLNL,RPUSD1
sanders_11_ASD_discovery_cases-13072.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-13136.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-13159.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13218.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HBA2
sanders_11_ASD_discovery_cases-13266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sansovic_17_DD/ID/ASD_discovery_cases-case36
Unknown
DNASE1,TRAP1
sansovic_17_DD/ID/ASD_discovery_cases-case4
Unknown
RBFOX1
sebat_07_ASD_discovery_cases-AU077504
390K ROMA or Agilent 244K aCGH, G-banded karyotyping, FISH, microsatellite
De novo
Simplex
NA
RBFOX1
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC16
Paternal
Multiplex
Not segregated
RBFOX1
tammimies_15_ASD_discovery_cases-case3-0313-000
Unknown (not maternal)
Unknown
Unknown
MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,SRL
tuncay_22_ASD_discovery_cases-caseMC-03-3
De novo
Simplex
Segregated
RBFOX1,RPS3AP48,NPM1P3,LINC01570,MIR8065,LINC02164,SNRPCP20,ENPP7P14
tuncay_22_ASD_discovery_cases-caseMC-16-3
Unknown
Simplex
Unknown
ADCY9,CREBBP,DNASE1,TNFRSF12A,ZSCAN32,HCFC1R1,NAA60,THOC6,KREMEN2,MMP25,FLYWCH1,SLX4,ZSCAN10,TIGD7,PAQR4,ZNF597,BICDL2,NLRC3,CASP16P,GREP1,LINC00921,C16orf90,OR1F1,MEFV,OR2C1,MTND1P8,MTRNR2L4,MMP25-AS1,ZNF213-AS1,RPL23AP86,RNU1-22P,MIR6126,LINC02861,MTCO1P28,RNU1-125P,ZNF200,ZNF213,ZNF75A,ZNF205,ZNF174,ZNF263,IL32,PKMYT1,CLDN9,TRAP1,CLDN6,OR1F2P,CLUAP1
tuncay_22_ASD_discovery_cases-caseMC-17-3
Unknown
Simplex
Unknown
CLCN7,CRAMP1,TMEM204,RPS3AP2,UNKL,RPS20P2,TPSB2,JPT2,GNPTG,TSR3,PRSS29P,SSTR5-AS1,C16orf91,PTX4,C1QTNF8,CCDC154,TPSP2,PERCC1,UBE2I,SSTR5,TPSAB1,CACNA1H,BAIAP3,TELO2,IFT140,TPSG1,TPSD1
tuncay_22_ASD_discovery_cases-caseMC-17-3
Unknown
Simplex
Unknown
ATP6V0C,CCNF,ABCA3,DNASE1L2,E4F1,ECI1,SNORA64,SNORD60,MSRB1,AMDHD2,TBC1D24,CASKIN1,HS3ST6,MLST8,LINC00254,TEDC2,TRAF7,ZNF598,NOXO1,RNF151,GFER,PGP,MEIOB,BRICD5,NPW,SNORA10,PDPK2P,ABCA17P,SNORA78,SNHG9,MIR940,TEDC2-AS1,CEMP1,NDUFB10,NTHL1,NTN3,MIR1225,MIR3180-5,MIR3677,MIR3178,MIR4516,SNHG19,MIR4717,PKD1,PDPK1,RPL3L,RPS2,MIR6511B1,MIR6767,MIR6768,LINC02124,RN7SL219P,TSC2,MIR3677HG,SYNGR3,SLC9A3R2,RNPS1,TBL3,RAB26
verberne_22_ASD/DD/ID_discovery_cases-case518
De novo
TSC2
yin_16_ASD_discovery_cases-case487
Unknown
Unknown
Unknown
DDX11L10,MIR6859-4,WASIR2,SNRNP25,WASH4P,IL9RP3,POLR3K,RHBDF1
yin_16_ASD_discovery_cases-case488
Unknown
Unknown
Unknown
NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,SEC14L5,ENPP7P14
yin_16_ASD_discovery_cases-case489
Unknown
Unknown
Unknown
MIR8065,LINC01570,RBFOX1
yin_16_ASD_discovery_cases-case490
Unknown
Unknown
Unknown
RNU7-99P,RNU6-457P,RBFOX1
yin_16_ASD_discovery_cases-case491
Unknown
Unknown
Unknown
RBFOX1
yuen_17_ASD_discovery_cases-case5-0138-003
Affymetrix CytoScanHD
Paternal
Simplex
Unknown
DNASE1,TRAP1,CREBBP
yuen_17_ASD_discovery_cases-caseAU048206
Not available
Paternal
Multiplex
Not segregated
TSC2,PKD1
yuen_17_ASD_discovery_cases-caseAU4399302
Not available
Unknown
Simplex
Unknown
NTHL1,MIR1225,SLC9A3R2,TSC2,PKD1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0794-003
RT-qPCR or WGS
Unknown
RNU7-99P,RNU6-457P,RNU6-328P,RBFOX1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0965-003
RT-qPCR or WGS
Unknown
RBFOX1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0138-003
RT-qPCR or WGS
Unknown
DNASE1,TRAP1,CREBBP
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0213-004
RT-qPCR or WGS
Unknown
RBFOX1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10013
Unknown
RNU6-457P,RBFOX1
bacchelli_20_ASD_discovery_controls-control20092
Unknown
RBFOX1
brandler_18_ASD_discovery_controls-controlSSC07841
PCR or SNP data validation
Maternal
RAB11FIP3
brandler_18_ASD_replication_controls-controlSSC04855
No validation step reported
Paternal
TSC2
engchuan_15_ASD_discovery_controls-control110036018794_
Unknown
ADCY9
engchuan_15_ASD_discovery_controls-control110036023398_
Unknown
CHTF18,GNG13,MSLNL,RPUSD1
engchuan_15_ASD_discovery_controls-control110036024081_
Unknown
C1QTNF8,TPSG1,TPSAB1,TPSB2,CACNA1H
engchuan_15_ASD_discovery_controls-controlB413051_1007853900
Unknown
RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CASP16P
engchuan_15_ASD_discovery_controls-controlB467864_1007874035
Unknown
PRSS27,SRRM2-AS1
engchuan_15_ASD_discovery_controls-controlB542562_1007854322
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlB644709_1007846503
Unknown
RHBDF1,MPG,NPRL3
engchuan_15_ASD_discovery_controls-controlB656745_1007841112
Unknown
engchuan_15_ASD_discovery_controls-controlB884589_1007853691
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlB885849_1007872260
Unknown
LINC02164,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,ENPP7P14,RBFOX1
engchuan_15_ASD_discovery_controls-controlB951788_1007843996
Unknown
HBZ,HBM,NPRL3
engchuan_15_ASD_discovery_controls-controlHABC_900270_900270
Unknown
C16orf91,RPS3AP2,UNKL,CLCN7,CCDC154
engchuan_15_ASD_discovery_controls-controlHABC_900304_900304
Unknown
CHTF18,GNG13,MSLNL,RPUSD1
engchuan_15_ASD_discovery_controls-controlHABC_900444_900444
Unknown
MIR8065,LINC01570,RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_900990_900990
Unknown
ALG1,EEF2KMT,ENPP7P14
engchuan_15_ASD_discovery_controls-controlHABC_901062_901062
Unknown
PRSS22,RPL23AP86,FLYWCH1,FLYWCH2
girirajan_13b_ASD_discovery_controls-37904101339
Unknown
PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,WDR90,RPUSD1,LMF1,CACNA1H
kanduri_15_ASD_discovery_controls-control_split1307
Unknown
DNASE1,TRAP1
kanduri_15_ASD_discovery_controls-control_split1892
Unknown
RBFOX1 (intronic)
kanduri_15_ASD_discovery_controls-control_split1932
Unknown
RBFOX1 (splicing location)
kanduri_15_ASD_discovery_controls-control_split408
Unknown
GFER,NDUFB10,NOXO1,NPW,RNF151,RPS2,SYNGR3,TBL3,ZNF598
krumm_13_ASD_discovery_controls-control12826.s1
Maternal
Simplex
NME4,DECR2
krumm_13_ASD_discovery_controls-control13018.s1
Maternal
Simplex
C16orf96
krumm_13_ASD_discovery_controls-control13398.s1
Maternal
Simplex
PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,KREMEN2,BICDL2,MMP25-AS1,MMP25
krumm_15_ASD_discovery_controls-control11391.s1
Illumina 1M
Paternal
SNRNP25,POLR3K,RHBDF1,MPG,NPRL3
krumm_15_ASD_discovery_controls-control11979.s1
Illumina 1MDuo
Maternal
NLRC3
krumm_15_ASD_discovery_controls-control12154.s1
Illumina 1MDuo
Paternal
MRPL28,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3
krumm_15_ASD_discovery_controls-control12826.s1
1M-Duov3
Maternal
NME4,DECR2
krumm_15_ASD_discovery_controls-control12931.s1
Illumina 1MDuo
Paternal
MMP25-AS1,MMP25,IL32
krumm_15_ASD_discovery_controls-control13018.s1
Illumina 1MDuo
Maternal
C16orf96
krumm_15_ASD_discovery_controls-control13398.s1
1M-Duov3
Maternal
TNFRSF12A,HCFC1R1,THOC6,BICDL2
krumm_15_ASD_discovery_controls-control13973.s1
Omni2.5-4v1
Maternal
MMP25-AS1,MMP25,IL32
krumm_15_ASD_discovery_controls-control14343.s1
Omni2.5-4v1
Maternal
MMP25-AS1,MMP25,IL32
kushima_18_ASD/SCZ_discovery_controls-controlCON1002
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
LINC02164,SNRPCP20,ENPP7P14,RBFOX1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0005
qRT-PCR
Unknown
RBFOX1,RNU7-99P
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0783
qRT-PCR
Unknown
RBFOX1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1897
qRT-PCR
Unknown
RBFOX1
lal_13_EP_discovery_controls-control310001598
Unknown
RBFOX1 (intronic)
lal_13_EP_discovery_controls-control310002253
Unknown
RBFOX1 (intronic)
levy_11_ASD_discovery_controls-12154.s1
Paternal
Simplex
NA
MRPL28,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3
levy_11_ASD_discovery_controls-12370.s1
Maternal
Simplex
NA
IGFALS,SPSB3,NUBP2,HAGH
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control35
Unknown
Unknown
Minimum CNV gene content: RNPS1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control36
Unknown
Unknown
Minimum CNV gene content: RNPS1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control37
Unknown
Unknown
Minimum CNV gene content: RNPS1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control38
Unknown
Unknown
Minimum CNV gene content: RNPS1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control39
Unknown
Unknown
Minimum CNV gene content: RNPS1
nord_11_ASD_discovery_controls-04C27669
HBZ,HBM
nord_11_ASD_discovery_controls-04C28486
DNASE1,TRAP1
poultney_13_ASD_discovery_controls-control04C35887A
Unknown
DNASE1,TRAP1
poultney_13_ASD_discovery_controls-control05C43337
Unknown
DNASE1,TRAP1
sanders_11_ASD_discovery_controls-11027.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11032.s1
Paternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11041.s1
Maternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11047.s1
Maternal
Simplex (quad)
NA
CORO7-PAM16,CORO7,VASN
sanders_11_ASD_discovery_controls-11064.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11096.s1
Paternal
Simplex (quad)
NA
ERVK13-1,PDPK2P
sanders_11_ASD_discovery_controls-11114.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11124.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11172.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11212.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11234.s1
Paternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11247.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11263.s1
Maternal
Simplex (quad)
NA
ERVK13-1,PDPK2P
sanders_11_ASD_discovery_controls-11284.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11291.s1
Maternal
Simplex (quad)
NA
HBA2,HBA1
sanders_11_ASD_discovery_controls-11301.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11305.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11339.s1
Maternal
Simplex (quad)
NA
HBM,HBZP1
sanders_11_ASD_discovery_controls-11349.s1
Paternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11357.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11381.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11399.s1
Maternal
Simplex (quad)
NA
PDPK2P
sanders_11_ASD_discovery_controls-11414.s1
Maternal
Simplex (quad)
NA
TRAP1
sanders_11_ASD_discovery_controls-11425.s1
Maternal
Simplex (quad)
NA
AXIN1
sanders_11_ASD_discovery_controls-11436.s1
Unknown
Simplex (quad)
NA
MIR8065,RBFOX1
sanders_11_ASD_discovery_controls-11447.s1
Both parents
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11453.s1
Both parents
Simplex (quad)
NA
TEDC2,MIR6768,NTN3,TBC1D24
sanders_11_ASD_discovery_controls-11470.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11475.s1
Paternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11485.s1
Both parents
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11497.s1
Unknown
Simplex (quad)
NA
WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,WDR90
sanders_11_ASD_discovery_controls-11502.s1
Maternal
Simplex (quad)
NA
PDPK1,ERVK13-1,PDPK2P
sanders_11_ASD_discovery_controls-11509.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11511.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11564.s1
Maternal
Simplex (quad)
NA
ERVK13-1,KCTD5
sanders_11_ASD_discovery_controls-11567.s1
Both parents
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11629.s1
Both parents
Simplex (quad)
NA
PDPK2P
sanders_11_ASD_discovery_controls-11696.s1
Maternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11718.s1
Maternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11723.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11766.s1
Paternal
Simplex (quad)
NA
ERVK13-1
sanders_11_ASD_discovery_controls-11827.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11843.s1
Paternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-11905.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11917.s1
Unknown
Simplex (quad)
NA
ABCA3
sanders_11_ASD_discovery_controls-11933.s1
Unknown
Simplex (quad)
NA
CHTF18,GNG13,RPUSD1
sanders_11_ASD_discovery_controls-11933.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11979.s1
Maternal
Simplex (quad)
NA
NLRC3
sanders_11_ASD_discovery_controls-12096.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12150.s1
Maternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-12150.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12185.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12223.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12224.s1
Maternal
Simplex (quad)
NA
NPRL3
sanders_11_ASD_discovery_controls-12231.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12241.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12272.s1
Both parents
Simplex (quad)
NA
PRR35,NHLRC4,PIGQ
sanders_11_ASD_discovery_controls-12317.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12341.s1
Paternal
Simplex (quad)
NA
HBZ,HBM
sanders_11_ASD_discovery_controls-12370.s1
Maternal
Simplex (quad)
NA
EME2,IGFALS,SPSB3,NUBP2,HAGH
sanders_11_ASD_discovery_controls-12383.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12409.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12424.s1
Both parents
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-12517.s1
Paternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-12555.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12575.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Paternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-12708.s1
Maternal
Simplex (quad)
NA
RBFOX1
sanders_11_ASD_discovery_controls-12836.s1
Maternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-12865.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12871.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12931.s1
Paternal
Simplex (quad)
NA
RNU1-125P,MMP25-AS1,MMP25,IL32
sanders_11_ASD_discovery_controls-12964.s1
Paternal
Simplex (quad)
NA
HBA2
sanders_11_ASD_discovery_controls-12972.s1
Maternal
Simplex (quad)
NA
SSTR5,SSTR5-AS1
sanders_11_ASD_discovery_controls-13006.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13018.s1
Maternal
Simplex (quad)
NA
C16orf96
sanders_11_ASD_discovery_controls-13195.s1
Paternal
Simplex (quad)
NA
RBFOX1
sanders_11_ASD_discovery_controls-13266.s1
Maternal
Simplex (quad)
NA
RBFOX1
stamouli_18_ASD/NDD_discovery_controls-family20_Twin_1
Unknown
N/A (both twins typically developing)
RBFOX1
stamouli_18_ASD/NDD_discovery_controls-family20_Twin_2
Unknown
N/A (both twins typically developing)
RBFOX1
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_12
Unknown
SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB
No Animal Model Data Available