10q21.3CNV Type: Deletion-Duplication
Largest CNV size: 242090 bp
Statistics Box:
Number of Reports: 44
Number of Reports: 44
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
A CTNNA3 compound heterozygous deletion implicates a role for T-catenin in susceptibility to autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
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
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
229125
1
0
1
bacchelli_14_ASD_discovery_cases
ASD samples from the Autism Genome Project (AGP)
2147
Diagnosis of ASD (diagnostic, clinical, and cognitive assessment previously described)
N/A
N/A
268640
16
0
16
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
115249
3
0
3
brandler_16_ASD_discovery_cases
ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
71
Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
N/A
N/A
305
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
305
1
0
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
391962
1
0
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
105918
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
144716
11
0
11
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
153159
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
164000
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
183000
0
1
1
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
800000
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
268639
29
3
32
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
20233
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
154408
4
0
4
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
291496
21
1
22
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
1685213
3
1
4
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
212622
1
0
1
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
71978
1
1
2
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
227000
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
101168
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
101168
2
1
3
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
26054
1
0
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
124308
1
0
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
245000
4
0
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
241774
10
1
11
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
144714
4
0
4
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
530000
2
0
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
106828
1
0
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
42643
1
0
1
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
73512
2
0
2
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
213000
1
1
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
266391
0
1
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
235000
3
0
3
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
111000
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
154794
13
0
13
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
155785
6
1
7
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
173843
2
1
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
242090
49
4
53
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
97258
1
0
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
127200
0
2
2
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
110000
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
84825
3
0
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
305944
7
0
7
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
51000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_14_ASD_discovery_controls
European control subjects from the Study of Addiction:Genetics and Environment cohort (SAGE), POPGEN, the Ottawa River Valley (OHI), CHOP, the Ontario Colorectal Cancer Case-Control study (OC), and the NHGR-CIDR Visceral Adiposity Study
6639
Control
N/A
N/A
415239
43
0
43
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
210359
6
0
6
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
293369
28
2
30
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
218941
4
0
4
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
8
0
8
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
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
101168
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
101168
3
1
4
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
26054
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
241774
3
2
5
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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.
0
0
0
0
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)
155785
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.
239140
40
3
43
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
84825
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
bacchelli_14_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 1Mv1 single and Illumina 1Mv3 duo
iPattern, PennCNV, QuantiSNP
PCR, qPCR
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
brandler_16_ASD_discovery_cases
N/A
WGS
Illumina HiSeq
Lumpy
SVtyper
PCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
aCGH (Agilent 180K)
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
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
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
aCGH (Agilent 1M)
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
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
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_14_ASD_discovery_controls
European
Array SNP, solid phase hybridization
Illumina 1Mv1 single, Illumina 1Mv3 duo, Illumina 550K; Affymetrix 6.0
None
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
egle_16_DD/ID_discovery_controls
N/A
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
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)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
qPCR
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG0194
N/A
N/A
ASD
ASD, speech delay with partial syndactyly between second and third toes, white hypopigmented area over right thigh anteriorly. Non-consanguineous parents.
66460348
66689473
229126
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_14299_4200
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66557325
66626756
69432
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_3093_004
N/A
M
ASD
Proband from the AGP (Autism Genome Project). Family history: unaffected parents; affected male sibling who also carries CTNNA3 deletion.
66557325
66637546
80222
GRCh38
Deletion
Yes
bacchelli_14_ASD_discovery_cases-case_3169_004
N/A
M
ASD
Proband from the AGP (Autism Genome Project). Family history: unaffected parents; affected male sibling who also carries CTNNA3 deletion.
66599376
66754169
154794
GRCh38
Deletion
Yes
bacchelli_14_ASD_discovery_cases-case_3311_003
N/A
M
ASD
Proband from the AGP (Autism Genome Project). Family history: unaffected parents; two male siblings with ASD (CTNNA3 deletion present in only 1 of these siblings).
66258603
66329543
70941
GRCh38
Deletion
Yes
bacchelli_14_ASD_discovery_cases-case_3456_3
5 yrs. 6 mos.
M
ASD
Case met criteria for autism on both ADOS-G and ADI-R (age of 5 years 6 months). Birth/neonatal history: born at 39 weeks gestation by spontaneous delivery; no prenatal exposure or history of chronic illnesses, alcohol, tobacco, or street drugs; birth weight of 3500 g (50th %ile), length of 52 cm (90th %ile), and OFC of 34.5 cm (50th %ile); Apgar scores of 8 and 9; breast fed with good suction. Developmental milestones: sat unsupported at 9 months, walked alone at 19 months, babbled at 12 months, able to pronounce first words at 30 months (echolalia noted). Langauge and communication evaluation: language limited to simple sentences with echolalia. Motor and musculoskeletal evaluation: bilateral pes planus pronatus; mild joint laxity. Behavioral/psychiatric evaluation: behavior characterized by motor instability, low levels of frustration tolerance, very poor and repetitive interests, bruxism, and occassional motor stereotypes; withdrawn from an early age; no interest towards peers; very passive, with no eye-to-eye contact; feeding selective for semi-solid foods. Sleep disturbances: none (normal sleep-wake rhythm). Additional medical history: started on risperidone at age of 5 years. Dysmorphic features: bilateral epicanthal folds, large anteverted ears, high arched palate. Growth parameters: height of 118 cm (90th %ile), weight of 22 kg (75th-90th %ile), and OFC of 50.5 cm (2nd-50th %ile) at age of 5 years 6 months. Family history: first child of healthy non-consanguineous parents; younger sister with normal cognition (WISC-R: TIQ 86, VIQ 90, PIQ 85), normal social and communication skills; parents do not show any evident cognitive or behavioral impairment; non-contributory family history. Additional genetic information: patient carries compound heterozygous CTNNA3 deletion (one of maternal origin, one of paternal origin); unaffected sister carries only paternally-transmitted deletion.
Borderline cognitive impairment (Griffiths Mental Developmental Scales and Leiter International Performance Scale), with performance better than verbal competences, at age of 5 years 6 months
66468408
66572910
104503
GRCh38
Deletion
Yes
bacchelli_14_ASD_discovery_cases-case_3456_3
5 yrs. 6 mos.
M
ASD
Case met criteria for autism on both ADOS-G and ADI-R (age of 5 years 6 months). Birth/neonatal history: born at 39 weeks gestation by spontaneous delivery; no prenatal exposure or history of chronic illnesses, alcohol, tobacco, or street drugs; birth weight of 3500 g (50th %ile), length of 52 cm (90th %ile), and OFC of 34.5 cm (50th %ile); Apgar scores of 8 and 9; breast fed with good suction. Developmental milestones: sat unsupported at 9 months, walked alone at 19 months, babbled at 12 months, able to pronounce first words at 30 months (echolalia noted). Langauge and communication evaluation: language limited to simple sentences with echolalia. Motor and musculoskeletal evaluation: bilateral pes planus pronatus; mild joint laxity. Behavioral/psychiatric evaluation: behavior characterized by motor instability, low levels of frustration tolerance, very poor and repetitive interests, bruxism, and occassional motor stereotypes; withdrawn from an early age; no interest towards peers; very passive, with no eye-to-eye contact; feeding selective for semi-solid foods. Sleep disturbances: none (normal sleep-wake rhythm). Additional medical history: started on risperidone at age of 5 years. Dysmorphic features: bilateral epicanthal folds, large anteverted ears, high arched palate. Growth parameters: height of 118 cm (90th %ile), weight of 22 kg (75th-90th %ile), and OFC of 50.5 cm (2nd-50th %ile) at age of 5 years 6 months. Family history: first child of healthy non-consanguineous parents; younger sister with normal cognition (WISC-R: TIQ 86, VIQ 90, PIQ 85), normal social and communication skills; parents do not show any evident cognitive or behavioral impairment; non-contributory family history. Additional genetic information: patient carries compound heterozygous CTNNA3 deletion (one of maternal origin, one of paternal origin); unaffected sister carries only paternally-transmitted deletion.
Borderline cognitive impairment (Griffiths Mental Developmental Scales and Leiter International Performance Scale), with performance better than verbal competences, at age of 5 years 6 months
66468408
66568082
99675
GRCh38
Deletion
Yes
bacchelli_14_ASD_discovery_cases-case_3476_3
N/A
M
ASD
Proband from the AGP (Autism Genome Project). Family history: unaffected parents; two unaffected male siblings (neither carry CTNNA3 deletion).
66725087
66817611
92525
GRCh38
Deletion
Yes
bacchelli_14_ASD_discovery_cases-case_4196_1
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66482914
66547056
64143
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_4211_1
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66599376
66754169
154794
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_4228_1
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66528001
66796640
268640
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_4291_1
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66622377
66780891
158515
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_4527_1
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66518071
66538288
20218
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_5013_3
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66593981
66641273
47293
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_5065_3
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66708822
66797795
88974
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_5237_3
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66198419
66322726
124308
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_cases-case_6372_3
N/A
N/A
ASD
Proband from the AGP (Autism Genome Project). Family history: N/A.
66549410
66684976
135567
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_cases-caseAB105
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
66547056
66560568
13513
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_cases-caseAB119
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
66455212
66508523
53312
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_cases-caseAB35
N/A
F
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
66305993
66421241
115249
GRCh38
Deletion
Yes
brandler_16_ASD_discovery_cases_caseREACH000288
N/A
M
ASD
Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
68063745
68064049
305
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000228
N/A
F
ASD
Case from REACH cohort
68063740
68064045
306
GRCh38
Deletion
Yes
chehbani_22_ASD_discovery_cases-case5
NA
F
ASD, intellectual disability, and epilepsy
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with epilepsy and developmental regression.
Intellectual disability.
66327560
66719521
391962
GRCh38
Deletion
No
costa_21_ASD_discovery_cases-caseP17
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: facial dysmorphisms, hypotonia, intellectual disability.
Intellectual disability
66516072
66621989
105918
GRCh38
Deletion
Yes
cucinotta_23_ASD_discovery_cases-case13
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66297230
66441945
144716
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case14
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66297230
66441945
144716
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case199
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66634652
66678676
44025
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case36
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66634652
66707841
73190
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case392
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66505754
66570991
65238
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case394
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66327560
66350285
22726
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case404
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66327560
66350285
22726
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case412
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66655831
66678676
22846
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case423
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66532653
66559268
26616
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case460
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66634652
66678676
44025
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case69
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
66667995
66798901
130907
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU026803
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
67718516
67871675
153159
Unknown
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300215
N/A
M
Developmental delay/intellectual disability
63861317
64024888
163572
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA244
12 yrs. (born 2002)
M
ASD
Diagnosis: High functioning autism/Asperger syndrome. Comorbidities/additional features: vocal and motor tics. Family history: none reported.
Normal IQ
66975510
67158616
183107
GRCh38
Duplication
No
egle_16_DD/ID_discovery_cases-case16_1
3 yrs.
M
Developmental delay
Atrial septal defect, Duane anomaly, strabismus
Developmental delay
62878242
63625311
747070
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14089_1530
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66780891
66908741
127851
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14184_3020
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65502746
65559102
56357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14214_3450
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66639401
66747663
108263
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14236_2610
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65502746
65559102
56357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14299_4200
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66557325
66626756
69432
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2169_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66528001
66568726
40726
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3034_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66669805
66737330
67526
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3061_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66975140
67162484
187345
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3093_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66557325
66637546
80222
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3134_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66409196
66455397
46202
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3169_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66595757
66754598
158842
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3311_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66258603
66329543
70941
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3377_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66688645
66719666
31022
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3456_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66470589
66568726
98138
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3476_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66725087
66817611
92525
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3537_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66695052
66754169
59118
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3582_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66425460
66504426
78967
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4028_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66975140
67162484
187345
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4038_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66695052
66754169
59118
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4196_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66476943
66547056
70114
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4211_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66599376
66754169
154794
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4228_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66528001
66796640
268640
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4291_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66622377
66792631
170255
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4349_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66794237
66828782
34546
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5013_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66593981
66641273
47293
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5065_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66708822
66797795
88974
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5237_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66198419
66322726
124308
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5282_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66449131
66504426
55296
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6323_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66460006
66490895
30890
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6372_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66549410
66684976
135567
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8701_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65502746
65559102
56357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case9749_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66665709
66760687
94979
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1573302
Autism
68174741
68194973
20233
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU002903
Autism
66198419
66322726
124308
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU002905
Autism
66198419
66322726
124308
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU026803
Autism
67741619
67772339
30721
Unknown
Homozygous Deletion
No
gai_11_ASD_replication_cases-AU026804
Autism
67724488
67878895
154408
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-11156.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66599477
66696730
97254
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11232.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66756561
66799042
42482
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11299.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66502371
66588839
86469
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11463.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66297031
66439619
142589
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11711.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66523579
66737249
213671
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12108.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66297031
66439619
142589
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12153.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66297031
66439619
142589
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13001.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66551387
66696730
145344
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13005.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66562661
66634853
72193
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13043.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66523579
66684277
160699
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13494.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66551387
66656032
104646
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13526.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66095471
66139152
43682
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13541.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66588439
66656032
67594
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13557.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66297031
66439619
142589
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13619.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66562661
66756961
194301
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13658.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66599477
66634853
35377
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13997.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66562661
66648188
85528
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14260.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66413505
66502771
89267
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14487.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66562661
66854157
291497
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU0911301
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66451593
66588839
137247
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU0946302
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66616557
66725992
109436
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1391302
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
66523579
66599877
76299
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case19D0628
15 mos. 28 days
F
Developmental delay
66634326
68319538
1685213
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseF3
3 yrs.
F
ASD
66264743
66338809
74067
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY67
3 yrs. 2 mos.
M
ASD
66476202
66725815
249614
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY95
5 yrs. 2 mos.
M
ASD
66449738
66622774
173037
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002020
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66544198
66756820
212623
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1834
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.
68395924
68448403
52480
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case2974
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.
69359021
69430998
71978
Unknown
Duplication
No
kim_18_DD/ID_discovery_cases-case10
2 yrs. 1 mo.
M
Developmental delay/intellectual disability and epilepsy
Absent speech, dysmorphic features, epilepsy, failure to thrive, microcephaly, hypotonia
Severe developmental delay/intellectual disability
66956243
67182776
226534
GRCh38
Deletion
No
krumm_13_ASD_discovery_cases-case11711.p1
N/A
M
ASD
ASD proband from SSC quad family 11711. SRS score of 88.
Full-scale IQ (FSIQ) score of 94.
66520616
66621784
101169
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11232.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
66766263
66775524
9262
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11549.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68442916
68506718
63803
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11711.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
66520616
66621784
101169
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case76
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.
67122903
67148957
26055
GRCh38
Deletion
No
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
66198419
66322726
124308
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseDZ29
NA
M
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: ND. Autistic features: ND. ADHD features: ND. Other features: None.
Initial cognitive development: ND. Cognitive regression: ND.
66327561
66350285
22725
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseEA25
NA
M
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: ND. Autistic features: ND. ADHD features: ND. Other features: None.
Initial cognitive development: ND. Cognitive regression: ND.
66790723
66908251
117529
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseEB99
NA
F
Epilepsy + autistic features
Phenotype: i-CSWSS. Seizure Characteristics: FS, absences. Autistic features: Yes. ADHD features: No. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 76, performance IQ 80 (at 6 years of age).
66491777
66737108
245332
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseEC08
NA
F
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: IGE, PS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 46, performance IQ 48 (at 8.5 years of age).
66678617
66746799
68183
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11120.p1
NA
M
ASD
NA
NA
66511170
66523745
12576
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11156.p1
NA
M
ASD
NA
NA
66593697
66700861
107165
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11232.p1
NA
M
ASD
NA
NA
66708753
66798715
89963
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11299.p1
NA
M
ASD
NA
NA
66494226
66593697
99472
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11463.p1
NA
M
ASD
NA
NA
66293991
66427225
133235
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11549.p1
NA
M
ASD
NA
NA
68443393
68508891
65499
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11705.p1
NA
M
ASD
NA
NA
66746764
66810261
63498
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11711.p1
NA
M
ASD
NA
NA
66508105
66749878
241774
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11762.p1
NA
M
ASD
NA
NA
66545597
66640191
94595
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12087.p1
NA
M
ASD
NA
NA
66470391
66545597
75207
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12153.p1
NA
M
ASD
NA
NA
66293991
66440169
146179
GRCh38
Deletion
No
lintas_17_ASD_discovery_cases-case1.1
12 yrs.
M
PDD-NOS
High functioning ASD (Asperger syndrome)
66297231
66441945
144715
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case1.2
10 yrs.
M
Autism
ASD, verbal
66297231
66441945
144715
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case1.3
8 yrs.
M
Autism
Low-functioning ASD, non-verbal
66297231
66441945
144715
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case14.1
N/A
N/A
Autism
No additional clinical information available
66327561
66374788
47228
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown3
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)
64300234
64830237
530004
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown4
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), CNV reported as 10q21.1 in original report
66562861
66684136
121276
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0068-003
NA
M
ASD
NA
NA
66709436
66816263
106828
GRCh38
Deletion
Yes
miclea_22_DD/ID_discovery_cases-case68
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
66347724
66390366
42643
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case107103
N/A
M
DCD/ADHD
Ancestry: Chinese. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
65934701
66008212
73512
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case110503
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
65848500
65861617
13118
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam640Proband7542
N/A
M
ASD
Additional clinical profile info N/A
ID
66500772
66713641
212870
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam734Proband8225
N/A
M
ASD
Additional clinical profile info N/A
ID
67587359
67671240
83882
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-304-1
ASD
69813554
70079944
266391
Unknown
Duplication
No
o'roak_12_ASD_discovery_cases-case11711.p1
NA
M
ASD/Autism
Case also identified with de novo KIAA0182 missense mutation. No additional clinical info available.
High IQ. Non verbal IQ, 97
66512663
66747663
235001
GRCh38
Deletion
Yes
o'roak_12_ASD_discovery_cases-case13494.p1
NA
F
ASD/Autism
Case also identified with de novo NOLC1 missense mutation. No additional clinical info available.
High IQ. Non verbal IQ, 93
66551387
66656032
104646
GRCh38
Deletion
Yes
o'roak_12_ASD_discovery_cases-case13557.p1
NA
M
ASD/Autism
Case also identified with de novo TTN, CISH and TSNARE1misssense mutations, and de novo ZBED2 synonymous mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 40
66294724
66449739
155016
GRCh38
Deletion
Yes
peycheva_18_ID/EP_discovery_cases-case222
14 yrs.
M
ID and epilepsy
Language and communication evaluation: absent speech. Behavioral/psychiatric evaluation: aggressive behavior, stereotypies, autistic features. Epilepsy/seizures: generalized tonic-clonic seizures.
Severe intellectual disability
66422076
66532713
110638
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3034_003
NA
M
Autism
Language delay, recurrent ear infections, no dysmorphic features, no epilepsy
Low normal IQ
66669805
66737330
67526
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3093_004
NA
M
Autism
NA
Mild MR
66557325
66637546
80222
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3134_004
NA
M
Autism
Phrase speech delay, no dysmorphic features, no seizures, born at 35 wks. Brother: autism, profound MR, language delay (nonverbal at time of evaluation), head circumference P98, no dysmorphic features, no seizures, left extremities decreased muscle function, flat feet, fullterm, C-section due to cord around neck
Moderate MR
66409196
66455397
46202
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3135_004
NA
M
Autism
Language delay, head circumference P98, no dysmorphic features, no seizures
Mild MR
66318723
66355445
36723
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3156_003
NA
M
Autism
Epilepsy
Mild MR
67741619
67788456
46837
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case3169_004
NA
M
Autism
NA
Low average IQ
66599376
66754169
154794
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3209_004
NA
M
Autism
Delay in single words but not in phrase speech, no other associated medical or psychiatric problems, no epilepsy. Sister: Autism, performance IQ 70, language delay, no other associated medical or psychiatric problems, no epilepsy
Normal IQ
66980652
66983475
2823
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case3311_003
NA
M
Autism
Language delay, congenital cataract, amblyopia, seizures in infancy. Brother with CNV: PDDNOS, language delay, amblyopia
Moderate MR
66258603
66329543
70941
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3321_3
NA
M
Autism
No epilepsy
Normal IQ
67741619
67788456
46837
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5013_3
NA
M
ASD
NA
NA
66593981
66641273
47293
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5065_3
NA
M
Autism
Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
Below average nonverbal IQ (<1%ile)
66708822
66797795
88974
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5237_3
NA
M
Autism
Below average language (<1%ile), no epilepsy, 5th finger clinodactyly, several curled toes
Below average nonverbal IQ (1%ile)
66198419
66322726
124308
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5282_3
NA
M
ASD
NA
NA
66449131
66504426
55296
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100564
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
67008990
67056307
47318
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case113501L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
67627058
67751842
124785
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case118909L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
67439723
67447839
8117
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case55449
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
67723100
67878884
155785
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60836
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
68140707
68228806
88100
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case66954
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
69898018
69913188
15171
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case95578
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
68761434
68779805
18372
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1202-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: unknown. Intellectual disability: no.
66494324
66668166
173843
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-004
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
66982077
67149807
167731
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-200
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
66530836
66684976
154141
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11006.p1
7.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
66318723
66364889
46167
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
68853524
68859520
5997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11085.p1
10.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
66547056
66569424
22369
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11120.p1
15.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 128
66512663
66524259
11597
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11142.p1
7.9
M
Autism
NA
Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
65033720
65091394
57675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11156.p1
13.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
66590624
66705735
115112
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11194.p1
5.3
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 88; verbal IQ, 98
67620398
67636658
16261
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11232.p1
8.7
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
66708822
66799596
90775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11274.p1
11.6
F
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
66318723
66364852
46130
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11299.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
66494324
66601650
107327
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11305.p1
14.6
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
66633908
66637546
3639
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11327.p1
11.3
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
66318723
66358692
39970
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11345.p1
6.1
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
66318723
66355445
36723
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11346.p1
11
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
66449131
66512663
63533
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11395.p1
6.4
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 127; verbal IQ, 87
66318723
66364889
46167
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
65816489
65829410
12922
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11463.p1
7.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
66291076
66450664
159589
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
68450138
68503822
53685
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
68853524
68859520
5997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11552.p1
9.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
66318723
66364852
46130
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11572.p1
9.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 83; verbal IQ, 93
66311855
66364852
52998
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11617.p1
15.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
66975140
67162484
187345
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
66708822
66719666
10845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
66508523
66750613
242091
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11740.p1
11.7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
66547056
66560568
13513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11788.p1
8.8
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
66318723
66355445
36723
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11860.p1
6
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
66547056
66569424
22369
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11911.p1
9.9
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
66318723
66367286
48564
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12087.p1
5.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
66470589
66547056
76468
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12108.p1
13.9
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 63; verbal IQ, 74
66294724
66455397
160674
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
64435541
64481815
46275
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12153.p1
11.1
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
66294724
66449739
155016
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
63383798
63419654
35857
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
68849311
68859520
10210
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12313.p1
11.8
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
68060108
68061152
1045
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12321.p1
11.2
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 76
66318723
66358692
39970
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
65537202
65553279
16078
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
65558690
65564698
6009
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12429.p1
4.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
66318723
66358692
39970
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12456.p1
14.3
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
65282445
65287663
5219
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12501.p1
5.6
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
65191990
65273427
81438
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12624.p1
7.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 47; verbal IQ, 27
66975140
66997087
21948
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12669.p1
16.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 91; verbal IQ, 120
66482914
66560568
77655
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
66709479
66719666
10188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
66589183
66593981
4799
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12788.p1
12.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
66318723
66368856
50134
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12799.p1
4
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 49
66547056
66702993
155938
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
68853524
68859520
5997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
66708822
66719666
10845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13005.p1
4.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
66560241
66639401
79161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
64353992
64393253
39262
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13042.p1
6.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
66318723
66354723
36001
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13043.p1
6.2
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 127; verbal IQ, 111
66523212
66688645
165434
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT219
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
66756760
66854017
97258
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR030-F10-3194.001
NA
ASD
NA
NA
66995136
67122336
127201
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR030-G10-3194.003
NA
ASD
NA
NA
66995136
67122336
127201
GRCh38
Duplication
Yes
tzetis_12_DD/ID_discovery_cases-case84
M
ADHD
Bilateral hearing loss, ADHD
66647988
66756820
108833
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case389
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63288953
63331813
42861
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case390
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
66264744
66349568
84825
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case391
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
66264744
66349568
84825
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0409-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
66289700
66448255
158556
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case16-1017-001
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
66701904
66784968
83065
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0490-000
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
66701684
66784968
83285
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0040-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
66730346
66783672
53327
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0040-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
66730346
66783672
53327
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0066-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
66499166
66805109
305944
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0237-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
66701904
66784968
83065
GRCh38
Deletion
Yes
zhou_19_ASD_discovery_cases-caseAU049803
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
67647365
67698191
50827
GRCh38
Duplication
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_14_ASD_discovery_controls-control1
N/A
N/A
Control
Control (cohort N/A)
N/A
N/A
N/A
NCBI36
Deletion
No
bacchelli_14_ASD_discovery_controls-control_110036018737
N/A
N/A
Control
Control from OC
66508523
66629690
121168
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_B291548_1007841762
N/A
N/A
Control
Control from SAGE
66404686
66698055
293370
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_B355026_0067942568
N/A
N/A
Control
Control from SAGE
66390493
66617105
226613
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_B431282_1007873513
N/A
N/A
Control
Control from SAGE
66557325
66659088
101764
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_B601040_1007870358
N/A
N/A
Control
Control from SAGE
66198419
66322726
124308
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_B764705_1007853643
N/A
N/A
Control
Control from SAGE
66661548
66792631
131084
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_B779950_1007875276
N/A
N/A
Control
Control from SAGE
66593981
66641273
47293
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_B782997_1007853703
N/A
N/A
Control
Control from SAGE
66198419
66325219
126801
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_B941932_1007873623
N/A
N/A
Control
Control from SAGE
66593981
66641273
47293
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_B974175_1007875270
N/A
N/A
Control
Control from SAGE
66318723
66460221
141499
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian1
N/A
N/A
Control
Control from CHOP
66514286
66639401
125116
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian10
N/A
N/A
Control
Control from CHOP
66750613
66839170
88558
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian11
N/A
N/A
Control
Control from CHOP
66760687
66822818
62132
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian2
N/A
N/A
Control
Control from CHOP
66514286
66648103
133818
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian3
N/A
N/A
Control
Control from CHOP
66514286
66659088
144803
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian4
N/A
N/A
Control
Control from CHOP
66530836
66622377
91542
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian5
N/A
N/A
Control
Control from CHOP
66567257
66624215
56959
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian6
N/A
N/A
Control
Control from CHOP
66604282
66659088
54807
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian7
N/A
N/A
Control
Control from CHOP
66610422
66659088
48667
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian8
N/A
N/A
Control
Control from CHOP
66697850
66786490
88641
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_Caucasian9
N/A
N/A
Control
Control from CHOP
66731218
66875275
144058
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONBSP_f_186933
N/A
N/A
Control
Control from POPGEN
67193100
67340670
147571
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONBSP_m_213905
N/A
N/A
Control
Control from POPGEN
66607916
66679244
71329
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONSPC2_f_179516
N/A
N/A
Control
Control from POPGEN
66325033
66441911
116879
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONSPC2_m_195755
N/A
N/A
Control
Control from POPGEN
66620652
66647256
26605
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONSPC_f_186937
N/A
N/A
Control
Control from POPGEN
66590382
66640660
50279
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONSPC_m_183371
N/A
N/A
Control
Control from POPGEN
66481771
66546179
64409
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONT-1870
N/A
N/A
Control
Control from OHI
66508507
66614326
105820
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONT-1970
N/A
N/A
Control
Control from OHI
66781503
67196741
415239
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONT-2085
N/A
N/A
Control
Control from OHI
66579404
66636905
57502
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONT1593
N/A
N/A
Control
Control from OHI
66594946
66645951
51006
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONT1635
N/A
N/A
Control
Control from OHI
66507568
66541865
34298
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONT1792
N/A
N/A
Control
Control from OHI
66525480
66690210
164731
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_CONT2294
N/A
N/A
Control
Control from OHI
66551816
66709681
157866
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_HABC_900268_900268
N/A
N/A
Control
Control from HABC
66490895
66629690
138796
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_HABC_900384_900384
N/A
N/A
Control
Control from HABC
66482914
66538288
55375
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_HABC_900941_900941
N/A
N/A
Control
Control from HABC
66593981
66698055
104075
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_HABC_900966_900966
N/A
N/A
Control
Control from HABC
66567257
66661548
94292
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_HABC_901209_901209
N/A
N/A
Control
Control from HABC
66583621
66727142
143522
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_HABC_902495_902495
N/A
N/A
Control
Control from HABC
66683941
66770706
86766
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_NCA07346
N/A
N/A
Control
Control from OHI
66594946
66640660
45715
GRCh38
Deletion
No
bacchelli_14_ASD_discovery_controls-control_NCA07559
N/A
N/A
Control
Control from OHI
66767727
67091135
323409
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control10034
N/A
F
Control
Control
66455212
66500772
45561
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control10035
N/A
F
Control
Control
66508523
66593981
85459
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control10120
N/A
M
Control
Control
66615909
66826267
210359
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control10236
N/A
M
Control
Control
66593981
66640660
46680
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control10438
N/A
F
Control
Control
66416397
66500772
84376
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control20037
N/A
M
Control
Control
66500548
66524259
23712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036018554_
N/A
N/A
Control
No previous psychiatric history
65502746
65559102
56357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036018737_
N/A
N/A
Control
No previous psychiatric history
66508523
66629690
121168
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036022275_
N/A
N/A
Control
No previous psychiatric history
65502746
65559102
56357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB291548_1007841762
N/A
N/A
Control
No previous psychiatric history
66404686
66698055
293370
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB355026_0067942568
N/A
N/A
Control
No previous psychiatric history
66390493
66617105
226613
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB382733_0067942590
N/A
N/A
Control
No previous psychiatric history
66407374
66504426
97053
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB431282_1007873513
N/A
N/A
Control
No previous psychiatric history
66557325
66659088
101764
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB467864_1007874035
N/A
N/A
Control
No previous psychiatric history
66557325
66601650
44326
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB496758_1007853668
N/A
N/A
Control
No previous psychiatric history
65191990
65287663
95674
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB587657_1007848510
N/A
N/A
Control
No previous psychiatric history
66449131
66504426
55296
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB601040_1007870358
N/A
N/A
Control
No previous psychiatric history
66198419
66322726
124308
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB614872_1007874936
N/A
N/A
Control
No previous psychiatric history
66975140
67162484
187345
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB764705_1007853643
N/A
N/A
Control
No previous psychiatric history
66661548
66792631
131084
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
N/A
N/A
Control
No previous psychiatric history
65502746
65559102
56357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB779950_1007875276
N/A
N/A
Control
No previous psychiatric history
66593981
66641273
47293
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB782997_1007853703
N/A
N/A
Control
No previous psychiatric history
66198419
66325219
126801
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB815730_1007875180
N/A
N/A
Control
No previous psychiatric history
66523212
66576537
53326
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB941932_1007873623
N/A
N/A
Control
No previous psychiatric history
66593981
66641273
47293
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB949791_1007854306
N/A
N/A
Control
No previous psychiatric history
66436786
66504426
67641
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
N/A
N/A
Control
No previous psychiatric history
66318723
66460221
141499
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900196_900196
N/A
N/A
Control
No previous psychiatric history
66589617
66641273
51657
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900268_900268
N/A
N/A
Control
No previous psychiatric history
66490895
66629690
138796
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900384_900384
N/A
N/A
Control
No previous psychiatric history
66482914
66538288
55375
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900392_900392
N/A
N/A
Control
No previous psychiatric history
65502746
65559102
56357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900941_900941
N/A
N/A
Control
No previous psychiatric history
66593981
66698055
104075
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900966_900966
N/A
N/A
Control
No previous psychiatric history
66567257
66661548
94292
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901209_901209
N/A
N/A
Control
No previous psychiatric history
66583621
66727142
143522
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901259_901259
N/A
N/A
Control
No previous psychiatric history
66557325
66617105
59781
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902495_902495
N/A
N/A
Control
No previous psychiatric history
66683941
66770706
86766
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
N/A
N/A
Control
No previous psychiatric history
66449131
66508523
59393
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls1-control1
N/A
N/A
Control
N/A
N/A
66667796
66886737
218942
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls1-control2
N/A
N/A
Control
N/A
N/A
66297031
66491977
194947
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls1-control3
N/A
N/A
Control
N/A
N/A
66523579
66588839
65261
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls1-control4
N/A
N/A
Control
N/A
N/A
66599477
66634853
35377
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control12
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control13
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control14
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control15
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control16
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control17
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control18
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control19
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
krumm_13_ASD_discovery_controls-control11711.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11711. SRS score of 48.
66520616
66621784
101169
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11232.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
66766263
66775524
9262
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11549.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68442916
68506718
63803
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11711.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
66520616
66621784
101169
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12864.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
66766263
66775524
9262
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11102.s1
NA
M
Control
NA
NA
66975670
67166080
190411
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11232.s1
NA
M
Control
NA
NA
66708753
66798715
89963
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11463.s1
NA
F
Control
NA
NA
66293991
66440169
146179
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11549.s1
NA
F
Control
NA
NA
68443393
68508891
65499
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11711.s1
NA
M
Control
NA
NA
66508105
66749878
241774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11006.s1
5.5
M
Control (matched sibling)
NA
NA
66318723
66358692
39970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
68853524
68859520
5997
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
66420212
66436786
16575
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11168.s1
7.9
M
Control (matched sibling)
NA
NA
66620835
66626756
5922
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
67620398
67636658
16261
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
66318723
66364852
46130
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11323.s1
6.3
F
Control (matched sibling)
NA
NA
64308094
64321324
13231
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11327.s1
9.5
F
Control (matched sibling)
NA
NA
66318723
66358692
39970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
66587201
66593981
6781
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
66318723
66368856
50134
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11346.s1
12.9
M
Control (matched sibling)
NA
NA
66449131
66512663
63533
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11357.s1
4.7
F
Control (matched sibling)
NA
NA
66495339
66560568
65230
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11463.s1
12.7
F
Control (matched sibling)
NA
NA
66294724
66455397
160674
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11495.s1
7.5
M
Control (matched sibling)
NA
NA
66564642
66590624
25983
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
68853524
68859520
5997
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
68437762
68503822
66061
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11552.s1
6
F
Control (matched sibling)
NA
NA
66318723
66355445
36723
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11554.s1
4.6
M
Control (matched sibling)
NA
NA
67567228
67576393
9166
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11615.s1
10.7
F
Control (matched sibling)
NA
NA
66318723
66358692
39970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11642.s1
7.6
F
Control (matched sibling)
NA
NA
66318723
66364889
46167
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
66508523
66747663
239141
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11740.s1
9.3
M
Control (matched sibling)
NA
NA
66547056
66560568
13513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11788.s1
11.5
M
Control (matched sibling)
NA
NA
66318723
66355445
36723
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11857.s1
12.5
F
Control (matched sibling)
NA
NA
66318723
66358692
39970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
66547056
66569424
22369
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
65701869
65715419
13551
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
66975140
67162484
187345
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12321.s1
9.8
F
Control (matched sibling)
NA
NA
66318723
66355445
36723
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12323.s1
4
F
Control (matched sibling)
NA
NA
67333328
67335750
2423
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12373.s1
11.7
F
Control (matched sibling)
NA
NA
66532610
66569424
36815
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12438.s1
6.4
M
Control (matched sibling)
NA
NA
68928813
68937355
8543
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12501.s1
8.1
M
Control (matched sibling)
NA
NA
65191990
65283100
91111
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
66708822
66719666
10845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12624.s1
4.1
F
Control (matched sibling)
NA
NA
66975140
66998205
23066
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12631.s1
18.8
M
Control (matched sibling)
NA
NA
66318723
66518071
199349
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-12788.s1
11.1
F
Control (matched sibling)
NA
NA
66311855
66364889
53035
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12864.s1
12.9
F
Control (matched sibling)
NA
NA
66737330
66792824
55495
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
65626205
65752713
126509
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
68853524
68859520
5997
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13005.s1
6.8
F
Control (matched sibling)
NA
NA
66560241
66647319
87079
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13042.s1
4.2
F
Control (matched sibling)
NA
NA
66318723
66358692
39970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
66318723
66355445
36723
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13153.s1
11.8
M
Control (matched sibling)
NA
NA
66291076
66423256
132181
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG0194
Unknown
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_14299_4200
Paternal
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_3093_004
qPCR
Maternal
Multiplex
Segregated (deletion in 2/2 affected siblings)
CTNNA3
bacchelli_14_ASD_discovery_cases-case_3169_004
qPCR
Maternal
Multiplex
Segregated (deletion in 2/2 affected siblings)
CTNNA3
bacchelli_14_ASD_discovery_cases-case_3311_003
qPCR
Maternal
Multiplex
Not segregated (variant in 2/3 affected siblings)
CTNNA3
bacchelli_14_ASD_discovery_cases-case_3456_3
PCR
Maternal
Simplex
Segregated
CTNNA3
bacchelli_14_ASD_discovery_cases-case_3456_3
PCR
Paternal
Simplex
Segregated
CTNNA3
bacchelli_14_ASD_discovery_cases-case_3476_3
qPCR
Paternal
Simplex
Segregated (deletion not in 2 unaffected siblings)
CTNNA3
bacchelli_14_ASD_discovery_cases-case_4196_1
Maternal
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_4211_1
Paternal
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_4228_1
Unknown
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_4291_1
Unknown
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_4527_1
Maternal
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_5013_3
Paternal
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_5065_3
Maternal
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_5237_3
Paternal
Unknown
Unknown
CTNNA3
bacchelli_14_ASD_discovery_cases-case_6372_3
Maternal (father N/A)
Unknown
Unknown
CTNNA3
bacchelli_20_ASD_discovery_cases-caseAB105
Unknown
Simplex
CTNNA3
bacchelli_20_ASD_discovery_cases-caseAB119
Maternal
Simplex
CTNNA3
bacchelli_20_ASD_discovery_cases-caseAB35
qPCR
Maternal
Simplex
CTNNA3
brandler_16_ASD_discovery_cases_caseREACH000288
PCR
De novo
Unknown
Possibly segregated
HERC4
brandler_18_ASD_discovery_cases-caseREACH000228
PCR
De novo
HERC4
chehbani_22_ASD_discovery_cases-case5
Unknown
Simplex
CTNNA3
costa_21_ASD_discovery_cases-caseP17
aCGH (Agilent 180K)
Paternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case13
Maternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case14
Maternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case199
Paternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case36
Maternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case392
Maternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case394
Paternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case404
Paternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case412
Maternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case423
Paternal
CTNNA3
cucinotta_23_ASD_discovery_cases-case460
Unknown
CTNNA3
cucinotta_23_ASD_discovery_cases-case69
Maternal
CTNNA3
davis_09_ASD_discovery_cases-AU026803
Unknown
Unknown
Unknown
CTNNA3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300215
Maternal
RPL7AP50
egger_14_ASD_discovery_cases-caseA244
Unknown
Unknown
LRRTM3,CTNNA3
egle_16_DD/ID_discovery_cases-case16_1
FISH or RT-PCR
Maternal
RNU6-543P,TATDN1P1,MIR1296,PRELID1P3,JMJD1C-AS1,NRBF2,JMJD1C,REEP3,EGR2
engchuan_15_ASD_discovery_cases-case14089_1530
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case14184_3020
Unknown
engchuan_15_ASD_discovery_cases-case14214_3450
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case14236_2610
Unknown
engchuan_15_ASD_discovery_cases-case14299_4200
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case2169_1
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3034_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3061_4
Unknown
LRRTM3,CTNNA3
engchuan_15_ASD_discovery_cases-case3093_4
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3134_4
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3169_4
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3311_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3377_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3456_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3476_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3537_1
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case3582_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case4028_1
Unknown
LRRTM3,CTNNA3
engchuan_15_ASD_discovery_cases-case4038_1
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case4196_1
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case4211_1
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case4228_1
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case4291_1
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case4349_1
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case5013_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case5065_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case5237_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case5282_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case6323_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case6372_3
Unknown
CTNNA3
engchuan_15_ASD_discovery_cases-case8701_201
Unknown
engchuan_15_ASD_discovery_cases-case9749_201
Unknown
CTNNA3
gai_11_ASD_discovery_cases-AU1573302
Inherited
CTNNA3 (intronic)
gai_11_ASD_replication_cases-AU002903
Inherited
CTNNA3
gai_11_ASD_replication_cases-AU002905
Inherited
CTNNA3
gai_11_ASD_replication_cases-AU026803
Inherited
CTNNA3 (intronic)
gai_11_ASD_replication_cases-AU026804
Inherited
CTNNA3
girirajan_13a_ASD_discovery_cases-11156.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-11232.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-11299.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-11463.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-11711.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-12108.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-12153.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-13001.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
CTNNA3
girirajan_13a_ASD_discovery_cases-13005.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-13043.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-13494.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-13526.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-13541.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-13557.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-13619.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-13658.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-13997.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-14260.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-14487.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-AU0911301
Unknown
Multiplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-AU0946302
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
CTNNA3
girirajan_13a_ASD_discovery_cases-AU1391302
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
CTNNA3
han_22_ASD/DD/ID_discovery_cases-case19D0628
Unknown
CTNNA3,DNAJC12,PBLD,MYPN,ATOH7,AKR1B10P1,LRRTM3,RPL12P8,POU5F1P5,KRT19P4,DNAJC19P1,RPL21P92,RPL7AP51,RPS3AP38,MIR7151,RN7SL220P,RN7SL394P,RNU6-523P,RN7SKP202,RNU6-1250P,LINC02640,HERC4,SIRT1
han_22_ASD/DD/ID_discovery_cases-caseF3
Maternal
CTNNA3
han_22_ASD/DD/ID_discovery_cases-caseY67
Unknown
CTNNA3
han_22_ASD/DD/ID_discovery_cases-caseY95
Unknown
CTNNA3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002020
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CTNNA3
kanduri_15_ASD_discovery_cases-case1834
Paternal
Unknown
Unknown
CTNNA3 (intronic)
kanduri_15_ASD_discovery_cases-case2974
Paternal
Unknown
Unknown
CTNNA3
kim_18_DD/ID_discovery_cases-case10
Unknown
LRRTM3,CTNNA3
krumm_13_ASD_discovery_cases-case11711.p1
Paternal
Simplex
Not segregated
CTNNA3
krumm_15_ASD_discovery_cases-case11232.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CTNNA3
krumm_15_ASD_discovery_cases-case11549.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RNA5SP319,RPL26P27,SLC25A16,DNA2
krumm_15_ASD_discovery_cases-case11711.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CTNNA3
larson_17_ASD_discovery_cases-case76
Unknown
Unknown
CTNNA3
leblond_12_ASD_replication_cases-Pintocase5237_3
aCGH (Agilent 1M)
Paternal
CTNNA3
lesca_12_EP_discovery_cases-caseDZ29
qPCR
Maternal
Unknown
Unknown
CTNNA3
lesca_12_EP_discovery_cases-caseEA25
qPCR
Maternal
Unknown
Unknown
CTNNA3
lesca_12_EP_discovery_cases-caseEB99
qPCR
Maternal
Unknown
Unknown
CTNNA3
lesca_12_EP_discovery_cases-caseEC08
qPCR
Unknown
Unknown
Unknown
CTNNA3
levy_11_ASD_discovery_cases-11120.p1
Paternal
Simplex
Segregated
CTNNA3
levy_11_ASD_discovery_cases-11156.p1
Paternal
Simplex
Possibly segregated
CTNNA3
levy_11_ASD_discovery_cases-11232.p1
Maternal
Simplex
Not segregated
CTNNA3
levy_11_ASD_discovery_cases-11299.p1
Paternal
Simplex
Segregated
CTNNA3
levy_11_ASD_discovery_cases-11463.p1
Paternal
Simplex
Not segregated
CTNNA3
levy_11_ASD_discovery_cases-11549.p1
Maternal
Simplex
Not segregated
RNA5SP319,RPL26P27,SLC25A16,DNA2
levy_11_ASD_discovery_cases-11705.p1
De novo
Simplex
Segregated
CTNNA3
levy_11_ASD_discovery_cases-11711.p1
Paternal
Simplex
Not segregated
CTNNA3
levy_11_ASD_discovery_cases-11762.p1
Maternal
Simplex
Possibly segregated
CTNNA3
levy_11_ASD_discovery_cases-12087.p1
Maternal
Simplex
Possibly segregated
CTNNA3
levy_11_ASD_discovery_cases-12153.p1
Paternal
Simplex
Possibly segregated
CTNNA3
lintas_17_ASD_discovery_cases-case1.1
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all three affected siblings)
CTNNA3
lintas_17_ASD_discovery_cases-case1.2
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all three affected siblings)
CTNNA3
lintas_17_ASD_discovery_cases-case1.3
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all three affected siblings)
CTNNA3
lintas_17_ASD_discovery_cases-case14.1
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
CTNNA3
maini_18_ASD/DD/ID_discovery_cases-case_unknown3
Maternal
Unknown
Unknown
RPL17P35,CYP2C61P,ANXA2P3
maini_18_ASD/DD/ID_discovery_cases-case_unknown4
Paternal
Unknown
Unknown
CTNNA3
marshall_08_ASD_discovery_cases-MM0068-003
qPCR, qmPCR
Unknown
NA
NA
CTNNA3
miclea_22_DD/ID_discovery_cases-case68
Unknown
CTNNA3
mosca_16_DCD_discovery_cases-case107103
qPCR
Paternal
Simplex
Unknown
CTNNA3
mosca_16_DCD_discovery_cases-case110503
qPCR
Paternal
Multi-generational
Possibly segregated
nava_13_ASD_discovery_cases-Fam640Proband7542
Unknown
Simplex
Unknown
CTNNA3
nava_13_ASD_discovery_cases-Fam734Proband8225
Unknown
Simplex
Unknown
CTNNA3
nord_11_ASD_discovery_cases-304-1
Maternal
DNA2,SLC25A16,RUFY2,TET1
o'roak_12_ASD_discovery_cases-case11711.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
CTNNA3
o'roak_12_ASD_discovery_cases-case13494.p1
aCGH, Sanger sequencing
Maternal
Simplex (trio)
Segregated
CTNNA3
o'roak_12_ASD_discovery_cases-case13557.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
CTNNA3
peycheva_18_ID/EP_discovery_cases-case222
qPCR
Unknown
CTNNA3
pinto_10_ASD_discovery_cases-case3034_003
LR-PCR
paternal
Multiplex
Not segregated
CTNNA3
pinto_10_ASD_discovery_cases-case3093_004
LR-PCR-Maternal
maternal
Multiplex
Not segregated
CTNNA3
pinto_10_ASD_discovery_cases-case3134_004
LR-PCR-Maternal
maternal
Multiplex
Segregated
CTNNA3
pinto_10_ASD_discovery_cases-case3135_004
LR-PCR
maternal
Simplex
NA
CTNNA3
pinto_10_ASD_discovery_cases-case3156_003
LR-PCR
paternal
Multiplex
Not segregated
CTNNA3 intronic
pinto_10_ASD_discovery_cases-case3169_004
LR-PCR-Maternal
maternal
Multiplex
Segregated
CTNNA3
pinto_10_ASD_discovery_cases-case3209_004
qPCR
paternal
Multiplex
Segregated
0 genes
pinto_10_ASD_discovery_cases-case3311_003
LR-PCR-Maternal
maternal
Multiplex
Not segregated (sib with PDD-NOS has CNV, sib with ASD does not)
CTNNA3
pinto_10_ASD_discovery_cases-case3321_3
LR-PCR
maternal
Multiplex
Not segregated
CTNNA3 intronic
pinto_10_ASD_discovery_cases-case5013_3
Agilent1M
paternal
NA
NA
CTNNA3
pinto_10_ASD_discovery_cases-case5065_3
Agilent1M
maternal
Multiplex
Unknown
CTNNA3
pinto_10_ASD_discovery_cases-case5237_3
Agilent1M
paternal
Simplex
NA
CTNNA3
pinto_10_ASD_discovery_cases-case5282_3
Agilent1M
paternal
NA
NA
CTNNA3
prasad_12_ASD_discovery_cases-case100564
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case113501L
Unknown
Unknown
Unknown
CTNNA3
prasad_12_ASD_discovery_cases-case118909L
Unknown
Simplex
Segregated
CTNNA3
prasad_12_ASD_discovery_cases-case55449
Unknown
Unknown
Unknown
CTNNA3
prasad_12_ASD_discovery_cases-case60836
Unknown
Unknown
Unknown
CTNNA3
prasad_12_ASD_discovery_cases-case66954
Unknown
Unknown
Unknown
SLC25A16,DNA2
prasad_12_ASD_discovery_cases-case95578
Unknown
Unknown
Unknown
CTNNA3
sajan_13_ACC/CBLH/PMG_discovery_cases-case1202-0
Not tested by qPCR
Unknown
Unknown
Unknown
CTNNA3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-004
Not tested by qPCR
Unknown
Unknown
Unknown
LRRTM3,CTNNA3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-200
Not tested by qPCR
Unknown
Unknown
Unknown
CTNNA3
sanders_11_ASD_discovery_cases-11006.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
STOX1
sanders_11_ASD_discovery_cases-11085.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11142.p1
Maternal
Simplex (quad-proband matched)
Segregated
NEK4P3
sanders_11_ASD_discovery_cases-11156.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11194.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11232.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
CTNNA3
sanders_11_ASD_discovery_cases-11274.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11299.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11305.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11327.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11346.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11395.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11447.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11463.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11549.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNA5SP319,RPL26P27,SLC25A16,DNA2
sanders_11_ASD_discovery_cases-11549.p1
Maternal
Simplex (quad-proband matched)
Not segregated
STOX1
sanders_11_ASD_discovery_cases-11552.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11572.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11617.p1
Maternal
Simplex (trio)
NA
LRRTM3,CTNNA3
sanders_11_ASD_discovery_cases-11680.p1
Unknown
Simplex (trio)
NA
CTNNA3
sanders_11_ASD_discovery_cases-11711.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11740.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11788.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11860.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-11911.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-12087.p1
Maternal
Simplex (trio)
NA
CTNNA3
sanders_11_ASD_discovery_cases-12108.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
CTNNA3
sanders_11_ASD_discovery_cases-12137.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12153.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-12184.p1
Maternal
Simplex (quad-proband matched)
Not segregated
JMJD1C
sanders_11_ASD_discovery_cases-12261.p1
Both parents
Simplex (quad-proband matched)
Not segregated
STOX1
sanders_11_ASD_discovery_cases-12313.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HERC4
sanders_11_ASD_discovery_cases-12321.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-12332.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12332.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12429.p1
Maternal
Simplex (trio)
NA
CTNNA3
sanders_11_ASD_discovery_cases-12456.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12501.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12624.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LRRTM3,CTNNA3
sanders_11_ASD_discovery_cases-12669.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-12691.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-12723.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-12788.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-12799.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-12892.p1
Maternal
Simplex (quad-proband matched)
Not segregated
STOX1
sanders_11_ASD_discovery_cases-12998.p1
Paternal
Simplex (trio)
NA
CTNNA3
sanders_11_ASD_discovery_cases-13005.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-13015.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13042.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA3
sanders_11_ASD_discovery_cases-13043.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
CTNNA3
sandoval_talamantes_23_ASD_discovery_cases-caseAUT219
Unknown
CTNNA3
szatmari_07_ASD_discovery_cases-NAAR030-F10-3194.001
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
LRRTM3,CTNNA3
szatmari_07_ASD_discovery_cases-NAAR030-G10-3194.003
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
LRRTM3,CTNNA3
tzetis_12_DD/ID_discovery_cases-case84
Unknown
Unknown
CTNNA3
yin_16_ASD_discovery_cases-case389
Unknown
Unknown
Unknown
JMJD1C
yin_16_ASD_discovery_cases-case390
Unknown
Unknown
Unknown
CTNNA3
yin_16_ASD_discovery_cases-case391
Unknown
Unknown
Unknown
CTNNA3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0409-003
RT-qPCR or WGS
Unknown
CTNNA3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case16-1017-001
RT-qPCR or WGS
Paternal
CTNNA3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0490-000
RT-qPCR or WGS
Unknown
CTNNA3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0040-003
RT-qPCR or WGS
Maternal
CTNNA3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0040-004
RT-qPCR or WGS
Maternal
CTNNA3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0066-003
RT-qPCR or WGS
Maternal
CTNNA3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0237-003
RT-qPCR or WGS
Unknown
CTNNA3
null
zhou_19_ASD_discovery_cases-caseAU049803
qPCR
Paternal
CTNNA3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_14_ASD_discovery_controls-control1
Unknown
CTNNA3 (at least one exon)
bacchelli_14_ASD_discovery_controls-control_110036018737
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_B291548_1007841762
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_B355026_0067942568
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_B431282_1007873513
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_B601040_1007870358
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_B764705_1007853643
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_B779950_1007875276
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_B782997_1007853703
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_B941932_1007873623
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_B974175_1007875270
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian1
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian10
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian11
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian2
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian3
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian4
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian5
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian6
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian7
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian8
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_Caucasian9
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONBSP_f_186933
Unknown
RPL7AP51,CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONBSP_m_213905
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONSPC2_f_179516
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONSPC2_m_195755
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONSPC_f_186937
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONSPC_m_183371
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONT-1870
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONT-1970
Unknown
LRRTM3,CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONT-2085
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONT1593
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONT1635
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONT1792
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_CONT2294
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_HABC_900268_900268
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_HABC_900384_900384
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_HABC_900941_900941
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_HABC_900966_900966
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_HABC_901209_901209
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_HABC_902495_902495
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_NCA07346
Unknown
CTNNA3
bacchelli_14_ASD_discovery_controls-control_NCA07559
Unknown
LRRTM3,CTNNA3
bacchelli_20_ASD_discovery_controls-control10034
Unknown
CTNNA3
bacchelli_20_ASD_discovery_controls-control10035
Unknown
CTNNA3
bacchelli_20_ASD_discovery_controls-control10120
Unknown
CTNNA3
bacchelli_20_ASD_discovery_controls-control10236
Unknown
CTNNA3
bacchelli_20_ASD_discovery_controls-control10438
Unknown
CTNNA3
bacchelli_20_ASD_discovery_controls-control20037
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-control110036018554_
Unknown
engchuan_15_ASD_discovery_controls-control110036018737_
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-control110036022275_
Unknown
engchuan_15_ASD_discovery_controls-controlB291548_1007841762
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB355026_0067942568
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB382733_0067942590
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB431282_1007873513
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB467864_1007874035
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB496758_1007853668
Unknown
engchuan_15_ASD_discovery_controls-controlB587657_1007848510
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB601040_1007870358
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB614872_1007874936
Unknown
LRRTM3,CTNNA3
engchuan_15_ASD_discovery_controls-controlB764705_1007853643
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
Unknown
engchuan_15_ASD_discovery_controls-controlB779950_1007875276
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB782997_1007853703
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB815730_1007875180
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB941932_1007873623
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB949791_1007854306
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlHABC_900196_900196
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlHABC_900268_900268
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlHABC_900384_900384
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlHABC_900392_900392
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900941_900941
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlHABC_900966_900966
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlHABC_901209_901209
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlHABC_901259_901259
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlHABC_902495_902495
Unknown
CTNNA3
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls1-control1
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls1-control2
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls1-control3
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls1-control4
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls2-control12
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls2-control13
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls2-control14
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls2-control15
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls2-control16
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls2-control17
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls2-control18
Unknown
CTNNA3
girirajan_13a_ASD_discovery_controls2-control19
Unknown
CTNNA3
krumm_13_ASD_discovery_controls-control11711.s1
Paternal
Simplex
CTNNA3
krumm_15_ASD_discovery_controls-control11232.s1
Illumina 1M
Maternal
CTNNA3
krumm_15_ASD_discovery_controls-control11549.s1
Illumina 1M
Maternal
RNA5SP319,RPL26P27,SLC25A16,DNA2
krumm_15_ASD_discovery_controls-control11711.s1
Illumina 1MDuo
Paternal
CTNNA3
krumm_15_ASD_discovery_controls-control12864.s1
Illumina 1MDuo
Paternal
CTNNA3
levy_11_ASD_discovery_controls-11102.s1
Paternal
Simplex
NA
LRRTM3,CTNNA3
levy_11_ASD_discovery_controls-11232.s1
Maternal
Simplex
NA
CTNNA3
levy_11_ASD_discovery_controls-11463.s1
Paternal
Simplex
NA
CTNNA3
levy_11_ASD_discovery_controls-11549.s1
Maternal
Simplex
NA
RNA5SP319,RPL26P27,SLC25A16,DNA2
levy_11_ASD_discovery_controls-11711.s1
Paternal
Simplex
NA
CTNNA3
sanders_11_ASD_discovery_controls-11006.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
STOX1
sanders_11_ASD_discovery_controls-11135.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11168.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11194.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11274.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11323.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11327.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11328.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11345.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11346.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11357.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11463.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11495.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11549.s1
Maternal
Simplex (quad)
NA
STOX1
sanders_11_ASD_discovery_controls-11549.s1
Maternal
Simplex (quad)
NA
RNA5SP319,RPL26P27,SLC25A16,DNA2
sanders_11_ASD_discovery_controls-11552.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11554.s1
Both parents
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11615.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11642.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11711.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11740.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11788.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11857.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11860.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-11868.s1
Maternal
Simplex (quad)
NA
LINC01515
sanders_11_ASD_discovery_controls-12020.s1
Paternal
Simplex (quad)
NA
LRRTM3,CTNNA3
sanders_11_ASD_discovery_controls-12321.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-12323.s1
Paternal
Simplex (quad)
NA
RPL7AP51,CTNNA3
sanders_11_ASD_discovery_controls-12373.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-12438.s1
Unknown
Simplex (quad)
NA
DDX50
sanders_11_ASD_discovery_controls-12501.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12596.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-12624.s1
Maternal
Simplex (quad)
NA
LRRTM3,CTNNA3
sanders_11_ASD_discovery_controls-12631.s1
qPCR
De Novo
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-12788.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-12864.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-12888.s1
Maternal
Simplex (quad)
NA
LINC01515
sanders_11_ASD_discovery_controls-12892.s1
Maternal
Simplex (quad)
NA
STOX1
sanders_11_ASD_discovery_controls-13005.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-13042.s1
Maternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-13089.s1
Paternal
Simplex (quad)
NA
CTNNA3
sanders_11_ASD_discovery_controls-13153.s1
Maternal
Simplex (quad)
NA
CTNNA3
No Animal Model Data Available