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5q35.3CNV Type: Deletion-Duplication


Largest CNV size: 263407 bp

Statistics Box:
Number of Reports: 37


Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Micro...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
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.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
NA
Duplication
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 5537
 1
 0
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 150
 1
 0
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 17430
 1
 0
 1
 cusco_09_ASD_discovery_cases
 74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
 96
 ASD
 
 87.5% Male
 186912
 0
 1
 1
 cusco_09_ASD_replication_cases
 Replication cohort of ASD patients
 215
 ASD
 
 
 186912
 0
 0
 0
 digregorio_17_DD/ID_discovery_cases
  NA NA
 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
 197000
 0
 2
 2
 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
 373426
 1
 15
 16
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 201510
 1
 0
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 32678
 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
 
 
 72564
 0
 1
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 111389
 1
 0
 1
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 307634
 1
 0
 1
 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
 254000
 0
 2
 2
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 1394377
 1
 0
 1
 guo_17_ASD_discovery_cases
 ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
 546
 Diagnosis of ASD based on DSM-IV-TR criteria
 Mean, 5.065 years
 N/A
 1070187
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 167401
 0
 1
 1
 kalsner_17_ASD_discovery_cases
 Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
 100
 All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
 Range, 21 mos.-17 yrs.
 76.0% Male
 365000
 0
 2
 2
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 2739927
 1
 4
 5
 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
 199390
 0
 4
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 481463
 1
 6
 7
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 64606
 0
 1
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 39394
 0
 1
 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
 105780
 0
 1
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 86000
 0
 3
 3
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 3534155
 0
 1
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 25810
 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
 
 
 102071
 0
 2
 2
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 21045
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 254860
 0
 2
 2
 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
 34236
 3
 4
 7
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 594279
 1
 0
 1
 rosenfeld_10_non-ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 3
 0
 3
 rosenfeld_13_DD_discovery_cases
 Probands analyzed by aCGH by Signature Genomic Laboratories from May 2004-February 2012
 53059
 Developmental delay (DD)
 N/A
 N/A
 3654751
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 188164
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 263407
 17
 53
 70
 sato_12_ASD_discovery_cases_1
 Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
 1614
 Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
 NA
 78.07% Male
 16518
 0
 1
 1
 sato_12_ASD_discovery_cases_2
 Three additional affected males from four-generation family with ASD/BAP
 3
 Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
 Range, 5 yrs. 8 mos.-95 yrs.
 100% Male
 21414
 2
 0
 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)
 
 2320000
 1
 0
 1
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 39394
 2
 0
 2
 wenger_16_22q11DS_discovery_cases
 Children with 22q11.21 deletion syndrome screened for "second hit" CNVs affecting one or more genes involving in mGluR signlaing
 75
 All 75 cases diagnosed with 22q11.2 deletion syndrome (22q11DS); 25 of these cases also present with ASD
 N/A
 N/A
 9500
 0
 1
 1
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 25448
 0
 1
 1
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 644000
 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
 180718
 1
 5
 6

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cusco_09_ASD_discovery_controls
 Control individuals matched for population ancestry
 52
 Control
 
 51.9% Male
 186912
 0
 0
 0
 cusco_09_ASD_replication_controls
 Replication control cohort
 120
 Control
 
 
 186912
 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
 117435
 1
 16
 17
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 307634
 0
 0
 0
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 1394377
 0
 0
 0
 guo_17_ASD_discovery_controls
 Control subjects screened for rare, large (>1 Mb) CNVs
 988
 No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 Mean, 34.3 years
 N/A
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 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
 203745
 0
 2
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 212972
 0
 2
 2
 leblond_19_ASD_discovery_controls
 Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
 321
 Control
 N/A
 N/A
 61210
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 25465
 0
 2
 2
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 34236
 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.
 
 80921
 12
 36
 48
 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
 180718
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 aCGH (Agilent SurePrint G3)
 cusco_09_ASD_discovery_cases
  Spanish
 aCGH
  BAC array containing 5442 large insert DNA fragments
 PennCNV
 CNV partition
 MLPA, aCGH, array SNP
 cusco_09_ASD_replication_cases
 
 MLPA
  MLPA panel containing probes targeting CNVs identified in discovery
 
 
 
 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
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_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)
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 guo_17_ASD_discovery_cases
  Chinese Han
 Solid phase hybridization
  Illumina 370K or 660K BeadChip
 PennCNV
 
 qPCR
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 kalsner_17_ASD_discovery_cases
  52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
 CMA
  Platform not reported
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 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
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 MLPA, MAQ
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_13_DD_discovery_cases
  N/A
 aCGH
  BACs aCGH, SignatureChipOS; all NSD1 duplications identified by BACs aCGH rerun for breakpoint refinement ib SignatureSelect 1.1 105K array, NimbleGen CGX 135 K array, or Illumina 610 Quad SNP array
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sato_12_ASD_discovery_cases_1
  Canadian (n=1158) and European (n=456)
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
 DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
 
 None
 sato_12_ASD_discovery_cases_2
  Canadian
 aCGH
  Agilent SurePrint G3 Human CGH 1x1M
 DNA Analytics, CBS/DNAcopy
 
 None
 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
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 wenger_16_22q11DS_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina HumanHap 550, or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 FISH
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  cusco_09_ASD_discovery_controls
  Spanish
  aCGH
  BAC array containing 5442 large insert DNA fragments
 
 
 
  cusco_09_ASD_replication_controls
 
  MLPA
  MLPA panel containing probes targeting CNVs identified in discovery
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_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
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  guo_17_ASD_discovery_controls
  Chinese Han
  Solid phase hybridization
  Illumina 610K BeadChip
  PennCNV
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  leblond_19_ASD_discovery_controls
  Faroe Islands
  Solid phase hybridization, WES
  Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
  PennCNV, QuantiSNP
  XHMM
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_cases-caseSSC10830
 N/A
 F
 ASD
 Case from SSC cohort
 
 179695592
 179701129
  5538
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-caseAU4079301
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 179617649
 179617798
  150
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11418
 NA
 M
 ASD
 NA
 NA
 180985358
 181002788
  17431
 GRCh38
 Deletion
 Yes
  cusco_09_ASD_discovery_cases-AUT150
 NA
 M
 Autism
 Obsessive-compulsive disorder
 Moderate MR
 177501908
 177688820
  186912
 Unknown
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_296528
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 180451423
 180648503
  197081
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300119
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 CNV locus incorrectly reported as 5q27.1-q27.2 in original report
 
 179300790
 179490593
  189804
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13225_2493
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 180691945
 180787853
  95909
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14315_4320
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 179549965
 179593621
  43657
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20069_1328001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 178411867
 178547126
  135260
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20069_1328001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 177968136
 178113222
  145087
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20097_1423001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 180682638
 180790652
  108015
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3077_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 180688817
 180790887
  102071
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3376_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 180688817
 180791668
  102852
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4158_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 177475449
 177552222
  76774
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4160_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 180688817
 180792304
  103488
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4346_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 180633790
 181007216
  373427
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4439_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 181101156
 181176691
  75536
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5005_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 180688817
 180790887
  102071
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5314_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 180688817
 180790887
  102071
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5419_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 181139689
 181180883
  41195
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6291_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 179301829
 179509721
  207893
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6330_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 181154614
 181187665
  33052
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000041
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S47
 N/A
 179375612
 179577122
  201511
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1622302
 
 
 Autism
 
 
 178759516
 178792193
  32678
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU052103
 
 
 Autism
 
 
 180467926
 180540489
  72564
 Unknown
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case552-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 179252461
 179363850
  111390
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si229
 11
 F
 Autism
 ADOS score: 9. Vineland composite score: 69.
 Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
 180979210
 181286843
  307634
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13341.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
 179512021
 179655692
  143672
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-13499.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
 179830394
 180080394
  250001
 GRCh38
 Duplication
 No
  griswold_12_ASD_discovery_cases-case17133
 NA
 NA
 ASD/autism
 NA
 NA
 179901228
 181295604
  1394377
 GRCh38
 Deletion
 Yes
  guo_17_ASD_discovery_cases-caseM10006
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
 
 178436082
 179506268
  1070187
 GRCh38
 Duplication
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case19
 2 yrs. 7 mos.
 NA
 Intellectual disability
 Speech delay, autistic features, kidney malformation
 Intellectual disability
 177373641
 177541042
  167402
 GRCh38
 Duplication
 No
  kalsner_17_ASD_discovery_cases-case12
 N/A
 N/A
 ASD
 Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
 
 178711731
 179076616
  364886
 GRCh38
 Triplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001141
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 178529878
 181269805
  2739928
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001145
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 181033562
 181131973
  98412
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002105
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 177228604
 177246556
  17953
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002700
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 179242296
 179562686
  320391
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004531
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 179680598
 180161082
  480485
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1493
 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.
 
 180176497
 180190328
  13832
 Unknown
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case1824
 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.
 
 178731921
 178931310
  199390
 Unknown
 Duplication
 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.
 
 180176497
 180190328
  13832
 Unknown
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case3073
 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.
 
 180176497
 180190328
  13832
 Unknown
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11245.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 179560024
 179581012
  20989
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12485.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 181045489
 181059862
  14374
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12941.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 177748636
 178230099
  481464
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13177.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 180269279
 180280561
  11283
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13499.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 179863447
 180040647
  177201
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14197.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 180312429
 180318956
  6528
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14384.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 181045489
 181059862
  14374
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11245.p1
 NA
 M
 ASD
 NA
 NA
 179525138
 179589743
  64606
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 180951710
 180991103
  39394
 GRCh38
 Duplication
 No
  mosca_16_DCD_discovery_cases-case110503
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
 
 180684839
 180790618
  105780
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam1106Proband10775
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 181006966
 181051190
  44225
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam555Proband9372
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 181006966
 181092876
  85911
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam819Proband10009
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 178709004
 178726687
  17684
 GRCh38
 Duplication
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-250838
 N/A
 F
 Developmental delay/intellectual disability
 Database: DECIPHER. Indication for study: Diabetes mellitus/hyperglycaemia, eczema, low birth weight (<3rd centile), intellectual disability/developmental delay, microcephaly, speech delay, non-specific impairment
 Developmental delay/intellectual disability
 177438082
 180972238
  3534157
 GRCh38
 Duplication
 N/A
  pfundt_16_nonNDD_discovery_cases-case110
 N/A
 N/A
 Non-NDD
 Disease cohort: complex phenotype. Description: SQSTM1 deletion
 
 179833031
 179858841
  25811
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5005_3
 NA
 M
 ASD
 NA
 NA
 180688817
 180790887
  102071
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5419_3
 NA
 M
 Autism
 No epilepsy; long, wide palpebral fissures, wide mouth, protruding ears, no other dysmorphic features
 Unknown
 181139689
 181180883
  41195
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case3616_3
 N/A
 M
 ASD
 Autism (autism on both ADI-R and ADOS), language delay (first words 24 mo), verbal. Born at term after normal pregnancy and delivery; no feeding or sleep problems; body length and head circumference during the first year of life were consistently between 0 to 1 SD; walked at 15 months; normal vision and hearing; had sensory-integration training because of over and undersensitivity; asthma and hay fever, no other medical issues, no seizures. Concerns about ADHD-like behavior in childhood, but did not fulfill criteria for ADHD and there are no concerns about hyperactivity at present. At 16 y, normal height and weight (50%ile), no obvious dysmorphic features (in particular, no ptosis, normal ears, no depressed nasal bridge, no long or prominent philtrum, no thin upper lip vermillion), normal fingers and toes. Family history: both parents unaffected; one non-ASD younger brother (not tested).
 Borderline IQ (WISC-III: VIQ 64, PIQ 82, FSIQ 70)
 177151071
 177172115
  21045
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 178726997
 178981856
  254860
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 177512778
 177522071
  9294
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case117461L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 178043911
 178055498
  11588
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case140016
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 178633950
 178658912
  24963
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case59144
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 177902137
 177924321
  22185
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case59962-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 178989073
 179001245
  12173
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case64249L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 180507805
 180542040
  34236
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case83680L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 180507805
 180542040
  34236
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case98140
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 179729388
 179743703
  14316
 Unknown
 Deletion
 No
  rosenfeld_10_ASD_discovery_cases-case19459
 NA
 NA
 ASD
 NA
 NA
 179175186
 179769465
  594279
 Unknown
 Deletion
 Yes
  rosenfeld_13_DD_discovery_cases-case8
 3 yrs.
 F
 Developmental delay
 Growth parameters: height +0.7 SD, weight +0.2 SD, OFC -3.9 SD. Bone age: not available. Neurodevelopment: DD; 8 month level at age of 20 months. Dysmorphic features: hypertelorism with telecanthus, narrow palpebral fissures, hypoplastic alae nasi, micrognathia. Skeletal and digital anomalies: metopic synostosis, left clubfoot. Other features: atrial septal defect. Family history: not specified.
 Developmental delay
 177175218
 180829970
  3654753
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1571-0
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: yes.
 180620412
 180808575
  188164
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11032.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
 178690619
 178695283
  4665
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11045.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
 178690619
 178695283
  4665
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11046.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 62
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11051.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
 180749005
 180755907
  6903
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13.9
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 180749005
 180755907
  6903
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11099.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
 178690619
 178695283
  4665
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11131.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
 177964048
 177974508
  10461
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11131.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
 177977813
 177979929
  2117
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 178690619
 178695283
  4665
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11224.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11227.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
 177964048
 177973549
  9502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 179528045
 179579304
  51260
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11257.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11283.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11324.p1
 11.4
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11336.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11355.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
 177971967
 177973549
  1583
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11355.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
 177964048
 177971535
  7488
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11370.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
 177968136
 177973549
  5414
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11382.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11414.p1
 12.7
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 83; verbal IQ, 80
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11415.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
 180749005
 180755907
  6903
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11436.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11479.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11490.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 101; verbal IQ, 57
 178690619
 178695283
  4665
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11508.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 83; verbal IQ, 75
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11551.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11569.p1
 9.1
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
 177964048
 177973247
  9200
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11578.p1
 5.1
 M
 ASD
 NA
 Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11597.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
 180749005
 180763328
  14324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11629.p1
 17.6
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11722.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
 180713115
 180790887
  77773
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11766.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 96
 180749005
 180755907
  6903
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11788.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 179659832
 179661004
  1173
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11863.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11868.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11872.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
 180749005
 180769181
  20177
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11909.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
 180749005
 180755907
  6903
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11911.p1
 9.9
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11948.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
 180749005
 180769181
  20177
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11972.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
 177946524
 177999529
  53006
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12011.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12031.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12036.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 54; verbal IQ, 48
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12074.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12078.p1
 9.2
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
 180749005
 180769181
  20177
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12113.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12113.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
 177964048
 177973549
  9502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12264.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
 180749005
 180769181
  20177
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12349.p1
 4.9
 M
 ASD
 NA
 Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
 180749005
 180769181
  20177
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12355.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12368.p1
 10.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 50; verbal IQ, 40
 180749005
 180769181
  20177
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12414.p1
 4.4
 M
 ASD
 NA
 Full-scale IQ, 116; non-verbal IQ, 129; verbal IQ, 90
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12472.p1
 5.6
 F
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
 177964048
 177973549
  9502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12498.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 67; verbal IQ, 63
 180749005
 180769181
  20177
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12642.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 91; verbal IQ, 113
 180749005
 180769181
  20177
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12651.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
 177964048
 177969199
  5152
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12652.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
 177964048
 177971535
  7488
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12667.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12838.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
 177520106
 177559299
  39194
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12941.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
 177964048
 178227455
  263408
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12964.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
 177520106
 177565787
  45682
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12989.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13070.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13146.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
 180749005
 180764068
  15064
 GRCh38
 Duplication
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 180983054
 180999571
  16518
 GRCh38
 Duplication
 No
  sato_12_ASD_discovery_cases_2-family1caseIV-3
 5 yrs. 8 mos.
 M
 Asperger
 Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
 Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
 181087486
 181106046
  18561
 GRCh38
 Deletion
 No
  sato_12_ASD_discovery_cases_2-family1caseIV-3
 5 yrs. 8 mos.
 M
 Asperger
 Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
 Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
 180985158
 181006571
  21414
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case82
 
 M
 DD/ID
 Craniofacial dysmorphism, prominent forehead, flat nasal bridge, low set malformed ears, anteverted nostrils,pulmonary artery stenosis,right ventricle dilatation,interauricular communication, cryptorchid testes
 
 178946846
 181269805
  2322960
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF1-003
 16 yrs. 7 mos.
 M
 Asperger syndrome
 Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
 Leiter-R IQ: 119 (92nd %ile)
 180951710
 180991103
  39394
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 180985158
 181002936
  17779
 GRCh38
 Deletion
 No
  wenger_16_22q11DS_discovery_cases-case5
 N/A
 N/A
 22q11.2 deletion syndrome and ASD
 
 
 N/A
 N/A
  9500
 GRCh37
 Duplication
 No
  wenger_16_ASD_discovery_cases-case48
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 181238490
 181263936
  25447
 GRCh38
 Duplication
 No
  xu_16_ASD/DD/ID_discovery_cases-case33
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis). Family history: proband's younger brother has less severe form of ASD (does not carry 5q35.3 deletion).
 
 180456302
 181100309
  644008
 GRCh38
 Deletion
 Yes
  yin_16_ASD_discovery_cases-case236
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 179056444
 179092186
  35743
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case237
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 180766767
 180947484
  180718
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case238
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 180766767
 180947484
  180718
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case239
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 180766767
 180947484
  180718
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case240
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 181006264
 181100309
  94046
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case241
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 181006264
 181100309
  94046
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB268450_1007841414
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180688817
  180792304
  103488
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB290777_1007875864
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180688817
  180791668
  102852
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB308771_1007854329
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180688817
  180790887
  102071
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB324229_1007854374
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180688817
  180790887
  102071
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB338919_1007853845
  N/A
  N/A
  Control
  No previous psychiatric history
 
  181019735
  181074193
  54459
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB346627_1007872552
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180694337
  180799673
  105337
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB488908_1007854765
  N/A
  N/A
  Control
  No previous psychiatric history
 
  181148250
  181182077
  33828
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB854263_1007853990
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180673452
  180790887
  117436
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB977307_1007842455
  N/A
  N/A
  Control
  No previous psychiatric history
 
  181019735
  181102706
  82972
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900368_900368
  N/A
  N/A
  Control
  No previous psychiatric history
 
  181019735
  181061260
  41526
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900468_900468
  N/A
  N/A
  Control
  No previous psychiatric history
 
  181019735
  181061260
  41526
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901014_901014
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180701788
  180791668
  89881
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901036_901036
  N/A
  N/A
  Control
  No previous psychiatric history
 
  181060863
  181092876
  32014
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
  N/A
  N/A
  Control
  No previous psychiatric history
 
  181148250
  181182077
  33828
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901142_901142
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180688817
  180783656
  94840
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902513_902513
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180682638
  180791668
  109031
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902947_900179
  N/A
  N/A
  Control
  No previous psychiatric history
 
  181148250
  181182077
  33828
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split249
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  180575250
  180607883
  32634
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split870
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  178731921
  178935665
  203745
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control13499.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  179858730
  180071702
  212973
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14384.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  181045489
  181059862
  14374
  GRCh38
  Duplication
  Yes
  leblond_19_ASD_discovery_controls-controlPN400455
  N/A
  F
  Control
  Non-autism control
 
  178209266
  178270472
  61207
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C43449A
  N/A
  M
  Control
  NIMH Control (NIMH ID 34352)
 
  181235352
  181260815
  25464
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C45836
  N/A
  M
  Control
  NIMH Control (NIMH ID 26071)
 
  177512094
  177516449
  4356
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11032.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180763328
  14324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11099.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  178690619
  178695283
  4665
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11114.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180763328
  14324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11144.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  177964048
  177973549
  9502
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11194.s1
  10.7
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180763328
  14324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11197.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180763328
  14324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11220.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  178690619
  178695283
  4665
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11224.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180763328
  14324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11.9
  M
  Control (matched sibling)
  NA
  NA
  177964048
  177973549
  9502
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11284.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180755907
  6903
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11309.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  181151750
  181182077
  30328
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11336.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180763328
  14324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  181081615
  181101156
  19542
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11382.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180763328
  14324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11436.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  180744716
  180763328
  18613
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11458.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180755907
  6903
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11501.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180763328
  14324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11519.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180763328
  14324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11526.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180755907
  6903
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11569.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  177964048
  177971967
  7920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11629.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11722.s1
  9.8
  M
  Control (matched sibling)
  NA
  NA
  180708005
  180782454
  74450
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11766.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11863.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180769181
  20177
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11869.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180769181
  20177
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11888.s1
  9.6
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180769181
  20177
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12011.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  177525918
  177558514
  32597
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12078.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180755907
  6903
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12113.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12211.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12327.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12327.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  181101156
  181182077
  80922
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12483.s1
  12.7
  M
  Control (matched sibling)
  NA
  NA
  177964048
  177971967
  7920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12498.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  180515395
  180534999
  19605
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12498.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180769181
  20177
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12507.s1
  26.1
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12642.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  180515395
  180524789
  9395
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12655.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180769181
  20177
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12667.s1
  19.3
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180755907
  6903
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12704.s1
  6.4
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180769181
  20177
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12784.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12964.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  177520106
  177565787
  45682
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12989.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13015.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  177525918
  177558514
  32597
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13023.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  180749005
  180764068
  15064
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseSSC10830
 SNP VCF
 
 De novo
 
 
 CANX
 
 brandler_18_ASD_replication_cases-caseAU4079301
 No validation step reported
 
 De novo
 
 
 HNRNPH1
 
 celestino-soper_11_ASD_discovery_cases-11418
 aCGH (Agilent SurePrint G3)
 
 Inherited
 Simplex
 NA
 BTNL3
 
 cusco_09_ASD_discovery_cases-AUT150
 MLPA & aCGH (Agilent 44k or 244K)
 
 Paternal
 NA
 NA
 COL23A1, AGXT2L2, GMCL1L, HNRNPAB, NOLA2, RMND5B
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_296528
 
 
 De novo
 
 
 SCGB3A1,CNOT6,FLT4
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300119
 
 
 Unknown
 
 
 ADAMTS2
 
 engchuan_15_ASD_discovery_cases-case13225_2493
 
 
 Unknown
 
 
 OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
 engchuan_15_ASD_discovery_cases-case14315_4320
 
 
 Unknown
 
 
 PRDX2P3,RUFY1
 
 engchuan_15_ASD_discovery_cases-case20069_1328001
 
 
 Unknown
 
 
 COL23A1
 
 engchuan_15_ASD_discovery_cases-case20069_1328001
 
 
 Unknown
 
 
 SUDS3P1,FAM153C,PROP1
 
 engchuan_15_ASD_discovery_cases-case20097_1423001
 
 
 Unknown
 
 
 LINC02222,OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
 engchuan_15_ASD_discovery_cases-case3077_4
 
 
 Unknown
 
 
 OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
 engchuan_15_ASD_discovery_cases-case3376_3
 
 
 Unknown
 
 
 OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
 engchuan_15_ASD_discovery_cases-case4158_1
 
 
 Unknown
 
 
 DDX41,PDLIM7,DOK3,FAM193B
 
 engchuan_15_ASD_discovery_cases-case4160_1
 
 
 Unknown
 
 
 OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
 engchuan_15_ASD_discovery_cases-case4346_1
 
 
 Unknown
 
 
 LINC02222,OR2AI1P,RNU1-17P,OR2Y1,LINC00847,ZFP62,RPS29P12,MGAT1,HEIH,BTNL8,BTNL3,FLT4
 
 engchuan_15_ASD_discovery_cases-case4439_1
 
 
 Unknown
 
 
 OR2V1,OR2V2
 
 engchuan_15_ASD_discovery_cases-case5005_3
 
 
 Unknown
 
 
 OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
 engchuan_15_ASD_discovery_cases-case5314_3
 
 
 Unknown
 
 
 OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
 engchuan_15_ASD_discovery_cases-case5419_3
 
 
 Unknown
 
 
 OR2V2
 
 engchuan_15_ASD_discovery_cases-case6291_3
 
 
 Unknown
 
 
 ADAMTS2
 
 engchuan_15_ASD_discovery_cases-case6330_3
 
 
 Unknown
 
 
 OR2V2
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000041
 
 
 De novo
 Unknown
 Unknown
 PRDX2P3,RUFY1
 
 gai_11_ASD_discovery_cases-AU1622302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU052103
 
 
 Inherited
 
 
 OR2V2
 
 gazzellone_14_ASD_discovery_cases-case552-3
 
 
 Unknown
 Unknown
 Unknown
 ADAMTS2
 
 girirajan_11_ASD_discovery_cases-Si229
 
 
 Unknown
 Simplex
 
 RNU6-1036P,MIR8089,FOXO1B,LINC01962,TRIM7,MIR4638,SNORD96A,SNORD95,TRIM52-AS1,BTNL3,BTNL9,OR2V1,OR2V2,TRIM41,RACK1,CTC-338M12.4,TRIM52
 
 girirajan_13a_ASD_discovery_cases-13341.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 PRDX2P3,C5orf60,HNRNPH1,RUFY1
 
 girirajan_13a_ASD_discovery_cases-13499.p1
 
 
 Unknown
 Simplex
 Unknown
 RN7SKP150,RPS15AP18,MIR340,MRNIP,TBC1D9B,SQSTM1,RNF130
 
 griswold_12_ASD_discovery_cases-case17133
 qPCR
 
 De novo
 Multiplex
 Not segregated
 RPS15AP18,MIR340,RNU6-525P,SCGB3A1,LINC02222,OR2AI1P,RNU1-17P,OR2Y1,LINC00847,ZFP62,RPS29P12,RNU6-1036P,MIR8089,FOXO1B,LINC01962,TRIM7,MIR4638,SNORD96A,SNORD95,TRIM52-AS1,TBC1D9B,RASGEF1C,MAPK9,GFPT2,CNOT6,MGAT1,HEIH,BTNL8,BTNL3,BTNL9,OR2V1,OR2V2,TRIM41,RACK1,CTC-338M12.4,TRIM52,RNF130,FLT4
 
 guo_17_ASD_discovery_cases-caseM10006
 qPCR
 
 Paternal
 
 
 RN7SKP70,RNU1-39P,PIGFP1,CLK4,ZNF354A,ZNF354B,ZNF454,GRM6,ZNF879,ZNF354C,AACSP1,ZFP2,COL23A1,ADAMTS2
 
 iourov_12_ASD/ID/EP_discovery_cases-case19
 
 
 Unknown
 Unknown
 Unknown
 PFN3,DDX41,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,DBN1
 
 kalsner_17_ASD_discovery_cases-case12
 
 
 Unknown
 Unknown
 Unknown
 RNU1-39P,PIGFP1,ZNF354A,ZNF354B,ZNF454,GRM6,ZNF879,ZNF354C,AACSP1,ZFP2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001141
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SKP70,RNU1-39P,PIGFP1,PRDX2P3,C5orf60,CBY3,LTC4S,MIR1229,RN7SKP150,RPS15AP18,MIR340,RNU6-525P,SCGB3A1,LINC02222,OR2AI1P,RNU1-17P,OR2Y1,LINC00847,ZFP62,RPS29P12,RNU6-1036P,MIR8089,FOXO1B,LINC01962,TRIM7,MIR4638,SNORD96A,SNORD95,TRIM52-AS1,CLK4,ZNF354A,ZNF354B,ZNF454,GRM6,ZNF879,ZNF354C,HNRNPH1,HMGB3P22,MAML1,MGAT4B,MRNIP,TBC1D9B,RASGEF1C,MAPK9,GFPT2,CNOT6,MGAT1,HEIH,BTNL8,BTNL3,BTNL9,OR2V1,OR2V2,TRIM41,RACK1,CTC-338M12.4,TRIM52,AACSP1,ZFP2,RUFY1,CANX,SQSTM1,RNF130,FLT4,COL23A1,ADAMTS2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001145
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR8089,FOXO1B,BTNL9,OR2V1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002105
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NSD1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002700
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RUFY1,ADAMTS2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004531
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CBY3,LTC4S,MIR1229,RN7SKP150,RPS15AP18,MIR340,HMGB3P22,MAML1,MGAT4B,MRNIP,TBC1D9B,RASGEF1C,CANX,SQSTM1,RNF130
 
 kanduri_15_ASD_discovery_cases-case1493
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, OR2Y1(dist=9439),MGAT1(dist=27213)
 
 kanduri_15_ASD_discovery_cases-case1824
 
 
 Maternal
 Unknown
 Unknown
 ADAMTS2
 
 kanduri_15_ASD_discovery_cases-case2974
 
 
 Paternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, OR2Y1(dist=9439),MGAT1(dist=27213)
 
 kanduri_15_ASD_discovery_cases-case3073
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, OR2Y1(dist=9439),MGAT1(dist=27213)
 
 krumm_15_ASD_discovery_cases-case11245.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 PRDX2P3,RUFY1
 
 krumm_15_ASD_discovery_cases-case12485.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 BTNL9
 
 krumm_15_ASD_discovery_cases-case12941.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 OR1X5P,SUDS3P1,N4BP3,NHP2,GMCL2,FAM153C,RMND5B,HNRNPAB,PHYKPL,FAM153A,PROP1
 
 krumm_15_ASD_discovery_cases-case13177.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 MAPK9
 
 krumm_15_ASD_discovery_cases-case13499.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RPS15AP18,MIR340,TBC1D9B,RNF130
 
 krumm_15_ASD_discovery_cases-case14197.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GFPT2
 
 krumm_15_ASD_discovery_cases-case14384.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 BTNL9
 
 levy_11_ASD_discovery_cases-11245.p1
 
 
 Maternal
 Simplex
 Segregated
 PRDX2P3,RUFY1
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 BTNL3
 
 mosca_16_DCD_discovery_cases-case110503
 
 
 Unknown
 Multi-generational
 Unknown
 LINC02222,OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
 nava_13_ASD_discovery_cases-Fam1106Proband10775
 
 
 Unknown
 Simplex
 Unknown
 RNU6-1036P,MIR8089,BTNL9
 
 nava_13_ASD_discovery_cases-Fam555Proband9372
 
 
 Paternal
 Simplex
 Unknown
 RNU6-1036P,MIR8089,BTNL9
 
 nava_13_ASD_discovery_cases-Fam819Proband10009
 
 
 Maternal
 Simplex
 Unknown
 ZNF354A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-250838
 
 
 Unknown
 Unknown
 Unknown
 DDX41,TMED9,OR1X5P,SUDS3P1,N4BP3,NHP2,GMCL2,RN7SL646P,RN7SKP70,RNU1-39P,PIGFP1,PRDX2P3,C5orf60,CBY3,LTC4S,MIR1229,RN7SKP150,RPS15AP18,MIR340,RNU6-525P,SCGB3A1,LINC02222,OR2AI1P,RNU1-17P,OR2Y1,LINC00847,ZFP62,RPS29P12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,FAM153C,RMND5B,HNRNPAB,PHYKPL,CLK4,ZNF354A,ZNF354B,ZNF454,GRM6,ZNF879,ZNF354C,HNRNPH1,HMGB3P22,MAML1,MGAT4B,MRNIP,TBC1D9B,RASGEF1C,MAPK9,GFPT2,CNOT6,MGAT1,HEIH,BTNL8,DBN1,B4GALT7,FAM153A,PROP1,AACSP1,ZFP2,RUFY1,CANX,SQSTM1,RNF130,FLT4,COL23A1,ADAMTS2
 
 pfundt_16_nonNDD_discovery_cases-case110
 MLPA or MAQ
 
 
 
 
 RN7SKP150,MRNIP,SQSTM1
 
 pinto_10_ASD_discovery_cases-case5005_3
 Agilent1M
 
 paternal
 NA
 NA
 OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
 pinto_10_ASD_discovery_cases-case5419_3
 Agilent1M-Maternal
 
 maternal
 Simplex
 NA
 OR2V2
 
 pinto_14_ASD_discovery_cases2-case3616_3
 qPCR
 
 Paternal
 Unknown
 Unknown (not tested)
 NSD1
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU1-39P,PIGFP1,ZNF354A,ZNF354B,ZNF454,GRM6,AACSP1,ZFP2
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 DDX41,FAM193B
 
 prasad_12_ASD_discovery_cases-case117461L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case140016
 
 
 Unknown
 Unknown
 Unknown
 ADAMTS2
 
 prasad_12_ASD_discovery_cases-case59144
 
 
 Unknown
 Multiplex
 Unknown
 COL23A1
 
 prasad_12_ASD_discovery_cases-case59962-L
 
 
 Unknown
 Unknown
 Unknown
 C5orf60
 
 prasad_12_ASD_discovery_cases-case64249L
 
 
 Unknown
 Unknown
 Unknown
 OR2V2
 
 prasad_12_ASD_discovery_cases-case83680L
 
 
 Unknown
 Unknown
 Unknown
 OR2V2
 
 prasad_12_ASD_discovery_cases-case98140
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 rosenfeld_10_ASD_discovery_cases-case19459
 FISH
 
 De novo
 Unknown
 Unknown
 SQSTM1,C5orf45,TBC1D9B,RNF130,RASGEF1C,MAPK9,GFPT2
 
 rosenfeld_13_DD_discovery_cases-case8
 FISH
 
 Unknown (not maternal)
 Unknown
 Unknown
 PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,N4BP3,NHP2,GMCL2,RN7SL646P,RN7SKP70,RNU1-39P,PIGFP1,PRDX2P3,C5orf60,CBY3,LTC4S,MIR1229,RN7SKP150,RPS15AP18,MIR340,RNU6-525P,SCGB3A1,LINC02222,OR2AI1P,RNU1-17P,OR2Y1,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,FAM153C,RMND5B,HNRNPAB,PHYKPL,CLK4,ZNF354A,ZNF354B,ZNF454,GRM6,ZNF879,ZNF354C,HNRNPH1,HMGB3P22,MAML1,MGAT4B,MRNIP,TBC1D9B,RASGEF1C,MAPK9,GFPT2,CNOT6,MGAT1,HEIH,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,AACSP1,ZFP2,RUFY1,CANX,SQSTM1,RNF130,FLT4,NSD1,COL23A1,ADAMTS2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1571-0
 qPCR
 
 Maternal
 Unknown
 Unknown
 LINC02222,OR2AI1P,RNU1-17P,OR2Y1,MGAT1,FLT4
 
 sanders_11_ASD_discovery_cases-11032.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11039.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11045.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11046.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11051.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11099.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11131.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SUDS3P1
 
 sanders_11_ASD_discovery_cases-11131.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11220.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11224.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11227.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SUDS3P1
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PRDX2P3,RUFY1
 
 sanders_11_ASD_discovery_cases-11257.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11283.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11324.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11336.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11355.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SUDS3P1
 
 sanders_11_ASD_discovery_cases-11355.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SUDS3P1
 
 sanders_11_ASD_discovery_cases-11370.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SUDS3P1
 
 sanders_11_ASD_discovery_cases-11382.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11414.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11436.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11479.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11490.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11508.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11551.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11569.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SUDS3P1
 
 sanders_11_ASD_discovery_cases-11578.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11597.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11629.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11722.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU1-17P,OR2Y1,MGAT1
 
 sanders_11_ASD_discovery_cases-11766.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11788.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11863.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11868.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11872.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11909.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11911.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11948.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11972.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SUDS3P1,PROP1
 
 sanders_11_ASD_discovery_cases-12011.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12031.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12036.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12074.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12078.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12113.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12113.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SUDS3P1
 
 sanders_11_ASD_discovery_cases-12264.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12349.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12355.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12368.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12414.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12472.p1
 
 
 Both parents
 Simplex (trio)
 NA
 SUDS3P1
 
 sanders_11_ASD_discovery_cases-12498.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12642.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12651.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12652.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SUDS3P1
 
 sanders_11_ASD_discovery_cases-12667.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12838.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FAM193B
 
 sanders_11_ASD_discovery_cases-12941.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SUDS3P1,N4BP3,NHP2,GMCL2,FAM153C,RMND5B,HNRNPAB,PHYKPL,PROP1
 
 sanders_11_ASD_discovery_cases-12964.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FAM193B
 
 sanders_11_ASD_discovery_cases-12989.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13070.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13146.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 BTNL3
 
 sato_12_ASD_discovery_cases_2-family1caseIV-3
 
 Possibly maternal
 Unknown
 Multiplex (brother with Asperger)
 Unknown
 FOXO1B
 
 sato_12_ASD_discovery_cases_2-family1caseIV-3
 
 Possibly maternal
 Unknown
 Multiplex (brother with Asperger)
 Unknown
 BTNL3
 
 tzetis_12_DD/ID_discovery_cases-case82
 
 
 De novo
 Unknown
 
 PRDX2P3,C5orf60,CBY3,LTC4S,MIR1229,RN7SKP150,RPS15AP18,MIR340,RNU6-525P,SCGB3A1,LINC02222,OR2AI1P,RNU1-17P,OR2Y1,LINC00847,ZFP62,RPS29P12,RNU6-1036P,MIR8089,FOXO1B,LINC01962,TRIM7,MIR4638,SNORD96A,SNORD95,TRIM52-AS1,ZNF454,GRM6,ZNF879,ZNF354C,HNRNPH1,HMGB3P22,MAML1,MGAT4B,MRNIP,TBC1D9B,RASGEF1C,MAPK9,GFPT2,CNOT6,MGAT1,HEIH,BTNL8,BTNL3,BTNL9,OR2V1,OR2V2,TRIM41,RACK1,CTC-338M12.4,TRIM52,RUFY1,CANX,SQSTM1,RNF130,FLT4,ADAMTS2
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 BTNL3
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 BTNL3
 
 wenger_16_22q11DS_discovery_cases-case5
 
 
 Unknown
 
 
 GNB2L1
 
 wenger_16_ASD_discovery_cases-case48
 
 
 Unknown
 
 
 SNORD96A,SNORD95,TRIM52-AS1,RACK1,CTC-338M12.4,TRIM52
 
 xu_16_ASD/DD/ID_discovery_cases-case33
 FISH
 
 De novo
 Multiplex
 
 SCGB3A1,LINC02222,OR2AI1P,RNU1-17P,OR2Y1,LINC00847,ZFP62,RPS29P12,RNU6-1036P,MIR8089,FOXO1B,CNOT6,MGAT1,HEIH,BTNL8,BTNL3,BTNL9,FLT4
 
 yin_16_ASD_discovery_cases-case236
 
 
 Unknown
 Unknown
 Unknown
 ZNF354C
 
 yin_16_ASD_discovery_cases-case237
 
 
 Unknown
 Unknown
 Unknown
 LINC00847,ZFP62,RPS29P12,MGAT1,HEIH,BTNL8
 
 yin_16_ASD_discovery_cases-case238
 
 
 Unknown
 Unknown
 Unknown
 LINC00847,ZFP62,RPS29P12,MGAT1,HEIH,BTNL8
 
 yin_16_ASD_discovery_cases-case239
 
 
 Unknown
 Unknown
 Unknown
 LINC00847,ZFP62,RPS29P12,MGAT1,HEIH,BTNL8
 
 yin_16_ASD_discovery_cases-case240
 
 
 Unknown
 Unknown
 Unknown
 RNU6-1036P,MIR8089,FOXO1B,BTNL3,BTNL9
 
 yin_16_ASD_discovery_cases-case241
 
 
 Unknown
 Unknown
 Unknown
 RNU6-1036P,MIR8089,FOXO1B,BTNL3,BTNL9
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB268450_1007841414
 
 
  Unknown
 
 
  OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
engchuan_15_ASD_discovery_controls-controlB290777_1007875864
 
 
  Unknown
 
 
  OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
engchuan_15_ASD_discovery_controls-controlB308771_1007854329
 
 
  Unknown
 
 
  OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
engchuan_15_ASD_discovery_controls-controlB324229_1007854374
 
 
  Unknown
 
 
  OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
engchuan_15_ASD_discovery_controls-controlB338919_1007853845
 
 
  Unknown
 
 
  MIR8089,BTNL9
 
engchuan_15_ASD_discovery_controls-controlB346627_1007872552
 
 
  Unknown
 
 
  RNU1-17P,OR2Y1,MGAT1
 
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
 
 
  Unknown
 
 
  OR2V2
 
engchuan_15_ASD_discovery_controls-controlB854263_1007853990
 
 
  Unknown
 
 
  LINC02222,OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
engchuan_15_ASD_discovery_controls-controlB977307_1007842455
 
 
  Unknown
 
 
  MIR8089,FOXO1B,BTNL9
 
engchuan_15_ASD_discovery_controls-controlHABC_900368_900368
 
 
  Unknown
 
 
  MIR8089,BTNL9
 
engchuan_15_ASD_discovery_controls-controlHABC_900468_900468
 
 
  Unknown
 
 
  MIR8089,BTNL9
 
engchuan_15_ASD_discovery_controls-controlHABC_901014_901014
 
 
  Unknown
 
 
  RNU1-17P,OR2Y1,MGAT1
 
engchuan_15_ASD_discovery_controls-controlHABC_901036_901036
 
 
  Unknown
 
 
  BTNL9
 
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
 
 
  Unknown
 
 
  OR2V2
 
engchuan_15_ASD_discovery_controls-controlHABC_901142_901142
 
 
  Unknown
 
 
  OR2AI1P,RNU1-17P,OR2Y1
 
engchuan_15_ASD_discovery_controls-controlHABC_902513_902513
 
 
  Unknown
 
 
  LINC02222,OR2AI1P,RNU1-17P,OR2Y1,MGAT1
 
engchuan_15_ASD_discovery_controls-controlHABC_902947_900179
 
 
  Unknown
 
 
  OR2V2
 
kanduri_15_ASD_discovery_controls-control_split249
 
 
  Unknown
 
 
  OR2V2
 
kanduri_15_ASD_discovery_controls-control_split870
 
 
  Unknown
 
 
  ADAMTS2
 
krumm_15_ASD_discovery_controls-control13499.s1
  1M-Duov3
 
  Maternal
 
 
  RPS15AP18,MIR340,MRNIP,TBC1D9B,RNF130
 
krumm_15_ASD_discovery_controls-control14384.s1
  Omni2.5-4v1
 
  Maternal
 
 
  BTNL9
 
leblond_19_ASD_discovery_controls-controlPN400455
 
 
  Unknown
 
 
  HNRNPAB,PHYKPL,COL23A1
 
poultney_13_ASD_discovery_controls-control05C43449A
 
 
  Unknown
 
 
  SNORD96A,SNORD95,TRIM41,RACK1,CTC-338M12.4,TRIM52
 
poultney_13_ASD_discovery_controls-control05C45836
 
 
  Unknown
 
 
  DDX41
 
sanders_11_ASD_discovery_controls-11032.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11099.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11114.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11144.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SUDS3P1
 
sanders_11_ASD_discovery_controls-11194.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11197.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11220.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11224.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SUDS3P1
 
sanders_11_ASD_discovery_controls-11284.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11309.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR2V2
 
sanders_11_ASD_discovery_controls-11336.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FOXO1B
 
sanders_11_ASD_discovery_controls-11382.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11436.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11458.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11501.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11519.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11526.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11569.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SUDS3P1
 
sanders_11_ASD_discovery_controls-11629.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11722.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU1-17P,OR2Y1
 
sanders_11_ASD_discovery_controls-11766.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11863.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11869.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11888.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12011.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FAM193B
 
sanders_11_ASD_discovery_controls-12078.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12113.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12211.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12327.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12327.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR2V1,OR2V2
 
sanders_11_ASD_discovery_controls-12483.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SUDS3P1
 
sanders_11_ASD_discovery_controls-12498.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CNOT6
 
sanders_11_ASD_discovery_controls-12498.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12507.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12642.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CNOT6
 
sanders_11_ASD_discovery_controls-12655.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12667.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12704.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12784.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12964.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FAM193B
 
sanders_11_ASD_discovery_controls-12989.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13015.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FAM193B
 
sanders_11_ASD_discovery_controls-13023.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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