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6p21.32CNV Type: Deletion-Duplication


Largest CNV size: 550000 bp

Statistics Box:
Number of Reports: 26


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
NA
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
NA
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 alayadhi_16_ASD_discovery_cases
 ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
 22
 All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
 N/A
 100% Male
 62740
 2
 0
 2
 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
 114566
 1
 0
 1
 chehbani_22_ASD_discovery_cases
  NA NA
 Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
 98
 Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
 Range, 3-18 yrs.
 84.69% Male
 43196
 1
 0
 1
 chilian_13_DD/ID_discovery_cases
 Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
 1
 Severe DD/ID, language impairment, behavioral abnormalities
 5 yrs.
 Male
 42344
 1
 0
 1
 cucinotta_23_ASD_discovery_cases
  NA NA
 Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
 329
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 NA
 84.19% Male
 303800
 2
 0
 2
 davis_12_ASD_discovery_cases
 Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
 1
 Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
 12 yrs.
 Male
 33456
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 148535
 3
 0
 3
 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.
 
 
 403741
 0
 3
 3
 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
 47174
 1
 2
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 226668
 8
 12
 20
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 40180
 0
 3
 3
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 80907
 0
 2
 2
 newbury_12_ASD/CAS_discovery_cases
 Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
 1
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
 14 yrs.
 Male
 19228
 1
 0
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 41902
 2
 0
 2
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 159211
 1
 1
 2
 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)
 29303
 1
 4
 5
 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
 111453
 4
 0
 4
 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
 62169
 66
 31
 97
 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
 70664
 1
 0
 1
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 550000
 0
 1
 1
 speevak_11_DD_discovery_cases
 Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
 1
 Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
 4.5 yrs.
 Male
 101400
 1
 0
 1
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 94931
 3
 3
 6
 writzl_13_ID/EP_discovery_cases
 Second child of healthy non-consanguineous parents with unremarkable family history
 1
 Intellectual disability (Weschler non-verbal IQ score of 50), severe speech impairment, and epilepsy
 9 yrs.
 Male
 50000
 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
 11530
 1
 0
 1
 yuan_23_ASD_discovery_cases
 ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
 369
 Cases diagnosed with ASD using DSM-IV.
 NA
 NA
 20211
 0
 1
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 114499
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 158892
 1
 0
 1
 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.
 
 
 403741
 0
 0
 0
 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
 130980
 3
 2
 5
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 214
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 412049
 6
 13
 19
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 40180
 0
 0
 0
 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
 65530
 1
 0
 1
 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)
 4925
 1
 0
 1
 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)
 111453
 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.
 
 60920
 53
 24
 77
 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
 11530
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 alayadhi_16_ASD_discovery_cases
  Saudi
 Solid phase hybridization
  Illumina HumanOmni 2.5M
 CNVPartition v.3.2.0, Penn CNV
 Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
 qPCR
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 chehbani_22_ASD_discovery_cases
  Tunisia
 aCGH
  Agilent SurePrint G3
 ADM-2
 Agilent Cytogenomic v.4.0.3.12.
 None
 chilian_13_DD/ID_discovery_cases
  Germany
 aCGH
  Agilent Human Genome CGH Microarray 244A
 
 
 None
 cucinotta_23_ASD_discovery_cases
  Italy
 aCGH
  Agilent SurePrint 4180K
 ADM-2
 Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
 None
 davis_12_ASD_discovery_cases
  NA
 Solid phase hybridization
  Illumina Human 1M-Duo DNA Analysis Bead Chip
 PennCNV, QuantiSNP, Gnosis
 CNVision
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 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)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 None
 newbury_12_ASD/CAS_discovery_cases
  European (Caucasian)
 aCGH
  Agilent 244K
 
 Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
 None
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 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
 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
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None
 speevak_11_DD_discovery_cases
  NA
 aCGH
  CytoChip 105K array
 
 BlueFuse Multi
 None
 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
 writzl_13_ID/EP_discovery_cases
  European
 aCGH
  Agilent 180K
 
 
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuan_23_ASD_discovery_cases
  China
 WES
  Illumina HiSeq
 NA
 GATK v.4.2.0.0.
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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
 
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  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
  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
  alayadhi_16_ASD_discovery_cases-caseAUT8-1
 N/A
 M
 Autism
 CARS score of 43.0; Social Responsiveness Scale (SRS) score of 77; Sensory profile score N/A.
 
 32490391
 32553130
  62740
 GRCh38
 Deletion
 Yes
  alayadhi_16_ASD_discovery_cases-caseAUT8-2
 N/A
 M
 Autism
 CARS score of 40.0; Social Responsiveness Scale (SRS) score of 70; Sensory profile score N/A.
 
 32490391
 32553130
  62740
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-case2-1205-003
 N/A
 F
 ASD
 Case from MSSNG cohort
 
 33323870
 33438435
  114566
 GRCh38
 Deletion
 No
  chehbani_22_ASD_discovery_cases-case61
  NA NA
 NA
 M
 ASD and intellectual disability
 Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
 Intellectual disability.
 32554092
 32597287
  43196
 GRCh38
 Deletion
 No
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 32482922
 32525266
  42345
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case236
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 32554092
 32597287
  43196
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case239
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 32431624
 32735423
  303800
 GRCh38
 Deletion
 No
  davis_12_ASD_discovery_cases-case1
 12 yrs.
 M
 Autism
 Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
 Vineland adaptive behavior scale, 98 (45th %ile).
 32486077
 32519533
  33457
 GRCh38
 Homozygous deletion
 No
  engchuan_15_ASD_discovery_cases-case3099_8
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33520772
 33557903
  37132
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4339_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33009150
 33157685
  148536
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5353_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33324094
 33436287
  112194
 GRCh38
 Deletion
 Yes
  girirajan_11_ASD_discovery_cases-Si149
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 131; Non-verbal IQ, 112.
 32375815
 32745716
  369902
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si175
 16
 F
 Autism
 ADOS score: 5. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
 32476616
 32779238
  302623
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si288
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 93; Non-verbal IQ, 83.
 32408916
 32812657
  403742
 GRCh38
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case1932
 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.
 
 33127987
 33139328
  11342
 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.
 
 32638315
 32640336
  2022
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case3076
 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.
 
 32509357
 32556530
  47174
 Unknown
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11085.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32641309
 32660249
  18941
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11184.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32641309
 32666607
  25299
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11309.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32637449
 32741536
  104088
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11352.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32519369
 32666609
  147241
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11359.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 33281301
 33283660
  2360
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11393.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32584103
 32666609
  82507
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11673.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32584108
 32666607
  82500
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12103.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32637449
 32666609
  29161
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12106.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32637449
 32666609
  29161
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12275.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32637449
 32666609
  29161
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12383.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32641309
 32666607
  25299
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12447.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32641309
 32660249
  18941
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12933.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32664797
 32666607
  1811
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13400.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32519369
 32741525
  222157
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13487.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32641309
 32666607
  25299
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13589.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32637458
 32741525
  104068
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13800.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32439941
 32666609
  226669
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13852.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32439941
 32666609
  226669
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14201.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32519369
 32666609
  147241
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14371.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32641309
 32666607
  25299
 GRCh38
 Duplication
 Yes
  larson_17_ASD_discovery_cases-case1
  NA NA
 N/A
 F
 ASD and psychosis
 Female, normal range IQ, onset 20s, atypical psychosis, find more data (1834EW). CNV not reported in DGV.
 IQ with normal range
 33166115
 33206295
  40181
 GRCh38
 Duplication
 No
  larson_17_ASD_discovery_cases-case11
  NA NA
 N/A
 F
 ASD and psychosis
 Female, above average IQ, age of onset 20s, atypical psychosis (no consensus diagnosis), no family history. CNV not reported in DGV.
 Above average IQ
 33408322
 33430421
  22100
 GRCh38
 Duplication
 No
  larson_17_ASD_discovery_cases-case2
  NA NA
 N/A
 F
 ASD and psychosis
 Female, above average IQ, age of onset 20s, atypical psychosis (no consensus diagnosis). CNV not reported in DGV.
 Above average IQ
 33166115
 33206295
  40181
 GRCh38
 Duplication
 No
  leblond_12_ASD_replication_cases-Pintocase5237_3
 NA
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
 Below average non-verbal IQ (<1st %ile)
 32517715
 32598621
  80907
 GRCh38
 Homozygous duplication
 No
  newbury_12_ASD/CAS_discovery_cases-case1
 14 yrs.
 M
 PDD-NOS and CAS
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
 
 32510376
 32529604
  19229
 GRCh38
 Deletion
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 N/A
 M
 ASD and ADHD
 Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
 TIQ score of 109
 32512250
 32554152
  41903
 GRCh38
 Deletion
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 N/A
 M
 Developmental delay
 Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
 Developmental delay (TIQ score of 54)
 32512250
 32554152
  41903
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5138_3
 NA
 M
 ASD
 NA
 NA
 32756221
 32915431
  159211
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5353_3
 NA
 F
 Autism
 Language delay, very lidle spontaneous communicaNon; EEG at age 12 y, possible seizure acNvity
 Below average nonverbal IQ
 33324094
 33436287
  112194
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1659A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU074703; NDAR ID NDAR_INVJJ895UYV)
 
 33272626
 33276068
  3443
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 33409644
 33423600
  13957
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 33264006
 33293308
  29303
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 33198306
 33206656
  8351
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0868A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
 
 33269488
 33293308
  23821
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case101464
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 33490909
 33506174
  15266
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case107437
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 33399995
 33511447
  111453
 Unknown
 Deletion
 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
 
 33492194
 33506174
  13981
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case96241
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 33490909
 33507787
  16879
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11025.p1
 4.6
 F
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
 32038127
 32039125
  999
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11037.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
 31983430
 32042485
  59056
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11047.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 32908737
 32929031
  20295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11051.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11074.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 75; verbal IQ, 58
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11090.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
 31985690
 32033945
  48256
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11128.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
 31985690
 31989587
  3898
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11128.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
 31991183
 32035067
  43885
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 31983430
 31991703
  8274
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11132.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11148.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
 32038127
 32040088
  1962
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11159.p1
 12.9
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
 31997979
 32038945
  40967
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11206.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
 31903708
 31910718
  7011
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11227.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
 31981575
 32042485
  60911
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11233.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
 31981575
 32042485
  60911
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11250.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
 31981575
 32036716
  55142
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11289.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
 31981575
 32036716
  55142
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11291.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11325.p1
 15.6
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 21
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11328.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81
 33060861
 33069745
  8885
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11333.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
 31981575
 32029291
  47717
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11334.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
 31985690
 32043744
  58055
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11368.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11371.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
 31985690
 31989587
  3898
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 31982489
 32042495
  60007
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 32018543
 32022321
  3779
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 31985690
 31989587
  3898
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11396.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
 31981575
 32043540
  61966
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11400.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11421.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11440.p1
 8.2
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
 31985690
 32038826
  53137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11455.p1
 7.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
 31981575
 32036716
  55142
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11473.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
 31984645
 32042485
  57841
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11516.p1
 12.8
 M
 Aspergers
 NA
 Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
 31981575
 32042495
  60921
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11552.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
 31903708
 31910718
  7011
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11569.p1
 9.1
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
 31981575
 32042485
  60911
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11583.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
 32256601
 32261461
  4861
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11584.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
 31985690
 32033945
  48256
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11590.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11609.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 31981575
 32028408
  46834
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11641.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 82
 31981575
 32043744
  62170
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11716.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20
 31985690
 32042495
  56806
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11722.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
 31981575
 32028408
  46834
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11825.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
 31981575
 32028408
  46834
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11828.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
 31985690
 32033945
  48256
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11893.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
 31981575
 32042495
  60921
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11917.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
 31903708
 31910718
  7011
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 31999193
 32013259
  14067
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11979.p1
 7.5
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
 31984135
 31989587
  5453
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11986.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
 31985690
 32040088
  54399
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 31983430
 31989587
  6158
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12030.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12060.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
 31981575
 31992101
  10527
 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
 31981575
 32042495
  60921
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12097.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
 32038127
 32042495
  4369
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12119.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
 31981575
 32033945
  52371
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12144.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
 31981575
 32028408
  46834
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12152.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
 31985690
 31989587
  3898
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12175.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
 31985690
 31989587
  3898
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12221.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
 32058330
 32060372
  2043
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12252.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
 31983430
 31989587
  6158
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12255.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
 32038127
 32042495
  4369
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12260.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
 31985690
 31989587
  3898
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12286.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 31984645
 32042495
  57851
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 31981575
 31991703
  10129
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12332.p1
 12.3
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
 32887304
 32889719
  2416
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12404.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
 31981575
 32040088
  58514
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12435.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12460.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
 33459072
 33462175
  3104
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12517.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 41; verbal IQ, 20
 31903708
 31910718
  7011
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12543.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 67
 33459072
 33513427
  54356
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 31980246
 32023916
  43671
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 32018543
 32022321
  3779
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 31984135
 31989587
  5453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12622.p1
 15.1
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
 31984645
 32033945
  49301
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12624.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 47; verbal IQ, 27
 31983430
 31988647
  5218
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12648.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
 32887304
 32912668
  25365
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12708.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
 31984135
 31989587
  5453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12723.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
 31991183
 32017378
  26196
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12736.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
 31984135
 31989587
  5453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12784.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
 31982489
 31993089
  10601
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12859.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 56; verbal IQ, 40
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12878.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
 31981575
 32042495
  60921
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12901.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 110
 31903708
 31910718
  7011
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12916.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 78; verbal IQ, 97
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12957.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
 31981575
 32032610
  51036
 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
 32887304
 32924911
  37608
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12975.p1
 10.4
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
 31903708
 31910718
  7011
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12979.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13015.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 31985690
 31989587
  3898
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13036.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
 31981575
 32036716
  55142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13050.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 93; verbal IQ, 108
 31983430
 31991703
  8274
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13051.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
 31981575
 31992101
  10527
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13072.p1
 15.5
 F
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
 31981575
 31992993
  11419
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13104.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 31903708
 31910718
  7011
 GRCh38
 Deletion
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 32487297
 32557960
  70664
 GRCh38
 Deletion
 No
  shen_10_ASD_discovery_cases-ASD-09-040
 NA
 M
 ASD
 NA
 NA
 31726512
 32276296
  549785
 GRCh38
 Duplication
 No
  speevak_11_DD_discovery_cases-case1
 4.5 yrs.
 M
 Developmental delay/speech delay
 Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
 
 32482945
 32584357
  101413
 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)
 32568117
 32578677
  10561
 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)
 32580526
 32591169
  10644
 GRCh38
 Duplication
 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)
 32637290
 32693166
  55877
 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)
 32470765
 32565695
  94931
 GRCh38
 Duplication
 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)
 32641404
 32664223
  22820
 GRCh38
 Duplication
 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)
 32487297
 32525407
  38111
 GRCh38
 Deletion
 No
  writzl_13_ID/EP_discovery_cases-case1
 9 yrs.
 M
 Intellectual disability and epilepsy
 Birth/neonatal history: brin at 38 weeks of gestation after unevenful pregnancy and normal vaginal delivery; birth weight ~50th %ile, length ~75th %ile, head circumference ~10th %ile; case did well in immediate neonatal period. Developmental milestones: delayed motor developmental and some hypotonia (sitting at 10 months, walking at 29 months, sphincter control present at 5 years); severe delay in speech development (made first babbling sounds at 40 months). Language and communication evaluation: able to say a few simple recognizable, but distorted, words at age of 9 years; unable to combine words or speak in sentences; unable to say name or surname, but able to spell and write them; communication by gestures and signing; able to understand and follow commands. Motor and musculoskeletal evaluation: clumsy and uncoordinated (due to visual-spatial deficits with reduced ability to judge heights); problems in descending stairs and playing sports; no regressive psychomotor changes. Behavioral/psychiatric evaluation: no behavior problems. Epilepsy/seizures: absence-like seizures accompanied by head nodding and sleep abnormalities first osberved at age of 4 years; case became and remained seizure-free after administration of valproic acid. EEG: normal at age of 10 months; following EEG recordings take after age of 4 years showed multifocal slow spikes and waves, which persisted after initiation of therapy. Brain imaging: no structural abnormalities observed on brain MRI at age of 5 years. Ophthalmologic evaluation: mildly dysplastic papillae, strabismus. Auditory evaluation: diagnosis of conductive hearing loss at age of 4 years after recurrent ear infections; had no hearing problems following surgical removal of adenoids and myringotomy. Dysmorphic features: downslanted palpebral fissures. Growth parameters: height of 138 cm (~50th %ile), weight of 25 kg (~10th %ile), and head circumference of 51 cm (~2nd %ile) at 9 years of age. Family history: second child of healthy non-consanguineous parents; unremarkable family history.
 Intellectual disability; Wechsler non-verbal IQ score of 50 at 8 years of age; while able to understand and follow commands, case demonstrated impairments on executive tasks.
 33388587
 33438562
  49976
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case246
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 32550980
 32562509
  11530
 GRCh38
 Deletion
 No
  yuan_23_ASD_discovery_cases-qma01967s000
 NA
 NA
 ASD
 Case diagnosed with ASD according to DSM-IV criteria.
 
 33405945
 33426155
  20211
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-case2-1205-003
 N/A
 N/A
 ASD
 Case cohort: The Autism Simplex Collection . Clinical description: N/A
 
 33323724
 33438223
  114500
 GRCh38
 Deletion
 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-controlB472351_1007842232
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32995502
  33154394
  158893
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1243
  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
 
  32509357
  32640336
  130980
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1567
  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
 
  32509357
  32556530
  47174
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1801
  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
 
  32638315
  32640336
  2022
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split660
  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
 
  32509357
  32556530
  47174
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split858
  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
 
  32638315
  32640336
  2022
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11220.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11220. SRS score of 41.
 
  33417096
  33417310
  215
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11045.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32641309
  32661457
  20149
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11052.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32579047
  32666609
  87563
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11085.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32641309
  32660249
  18941
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11203.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32641309
  32666607
  25299
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11372.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32637449
  32666609
  29161
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11469.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32641309
  32660249
  18941
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11543.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32637449
  32666609
  29161
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11673.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32584108
  32666607
  82500
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11797.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32641309
  32660249
  18941
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11964.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  33173347
  33176765
  3419
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12498.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32518555
  32813833
  295279
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12515.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32637449
  32666609
  29161
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12778.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32637458
  32741525
  104068
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12925.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32401784
  32813833
  412050
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13000.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32641309
  32666607
  25299
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13191.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32660235
  32666607
  6373
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13800.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32439941
  32666609
  226669
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13926.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32637449
  32666609
  29161
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14201.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32519369
  32666609
  147241
  GRCh38
  Deletion
  Yes
  leblond_19_ASD_discovery_controls-controlPN400341
  N/A
  F
  Control
  Non-autism control
 
  32518648
  32584175
  65528
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C36726A
  N/A
  M
  Control
  NIMH Control (NIMH ID 78161)
 
  33068648
  33073572
  4925
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11037.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11040.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32038826
  57252
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11051.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  31985690
  32039125
  53436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11077.s1
  14.8
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11083.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  32012285
  32039081
  26797
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11107.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11152.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11168.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11184.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32038826
  57252
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11189.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  31903708
  31910718
  7011
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11193.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  31903708
  31910718
  7011
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11214.s1
  17.2
  F
  Control (matched sibling)
  NA
  NA
  33147117
  33172232
  25116
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11220.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11227.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32042485
  60911
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11233.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32042485
  60911
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  31983430
  31987795
  4366
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11291.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11303.s1
  4.5
  M
  Control (matched sibling)
  NA
  NA
  32038127
  32042485
  4359
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11316.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11329.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11350.s1
  6.1
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32042485
  60911
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11368.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11396.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  31984645
  32042485
  57841
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11404.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11421.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11435.s1
  23.3
  M
  Control (matched sibling)
  NA
  NA
  31991183
  32017378
  26196
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11435.s1
  23.3
  M
  Control (matched sibling)
  NA
  NA
  32018543
  32022321
  3779
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32038127
  56553
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11459.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32040088
  58514
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11484.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11502.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11580.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11592.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  31983430
  31989587
  6158
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11600.s1
  19.2
  M
  Control (matched sibling)
  NA
  NA
  31995667
  32013259
  17593
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11625.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  31995667
  32013259
  17593
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11722.s1
  9.8
  M
  Control (matched sibling)
  NA
  NA
  31985690
  32036104
  50415
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11723.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  33042080
  33051397
  9318
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11766.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  31983430
  32042495
  59066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11793.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  32018543
  32022321
  3779
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  31984135
  31989587
  5453
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11913.s1
  5.9
  F
  Control (matched sibling)
  NA
  NA
  31985690
  32022321
  36632
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11917.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  31903708
  31911381
  7674
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  32005934
  32013259
  7326
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11959.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  32005934
  32013259
  7326
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12061.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12091.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12212.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  31983430
  31989587
  6158
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12252.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12299.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  32887304
  32889719
  2416
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12316.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12373.s1
  11.7
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32042495
  60921
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12382.s1
  12.4
  M
  Control (matched sibling)
  NA
  NA
  32038127
  32039125
  999
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12435.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12440.s1
  5.1
  F
  Control (matched sibling)
  NA
  NA
  31985690
  32042495
  56806
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12517.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  31903708
  31910718
  7011
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12534.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  31985690
  31989587
  3898
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12602.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  31983430
  31991703
  8274
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12624.s1
  4.1
  F
  Control (matched sibling)
  NA
  NA
  31903708
  31910718
  7011
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12648.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  32887304
  32912668
  25365
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12679.s1
  0
  M
  Control (matched sibling)
  NA
  NA
  31983430
  32032610
  49181
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12703.s1
  15.3
  F
  Control (matched sibling)
  NA
  NA
  31984645
  31989587
  4943
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12723.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  31981575
  32028408
  46834
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12796.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  31983430
  31989587
  6158
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12821.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  31982489
  31996469
  13981
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12859.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32036716
  55142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  31903708
  31910718
  7011
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12901.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  31903708
  31910718
  7011
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12975.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  31903708
  31911381
  7674
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13036.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  31985690
  31989587
  3898
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13051.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  31903708
  31910718
  7011
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13072.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  31981575
  31992993
  11419
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13077.s1
  13.9
  M
  Control (matched sibling)
  NA
  NA
  31981575
  32028408
  46834
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13104.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  31903708
  31910718
  7011
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13144.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  31985690
  31989587
  3898
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13193.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  31983430
  31991703
  8274
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13251.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  31981575
  31992993
  11419
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 alayadhi_16_ASD_discovery_cases-caseAUT8-1
 qPCR
 
 De novo (CNV not observed in either parent)
 Multiplex
 
 RNU1-61P,HLA-DRB5,HLA-DRB6
 
 alayadhi_16_ASD_discovery_cases-caseAUT8-2
 qPCR
 
 De novo (CNV not observed in either parent)
 Multiplex
 
 RNU1-61P,HLA-DRB5,HLA-DRB6
 
 brandler_18_ASD_replication_cases-case2-1205-003
 No validation step reported
 
 De novo
 
 
 MYL8P,LYPLA2P1,RPL35AP4,RPL12P1,PHF1,CUTA,MIR5004,KIFC1,SYNGAP1-AS1,SYNGAP1
 
 chehbani_22_ASD_discovery_cases-case61
 
 
 Unknown
 Simplex
 
 HLA-DRB1,HLA-DRB6
 
 chilian_13_DD/ID_discovery_cases-case1
 
 
 Unknown
 Possibly simplex (no info on 1st child)
 Unknown
 HLA-DRB5
 
 cucinotta_23_ASD_discovery_cases-case236
 
 
 Paternal
 
 
 HLA-DRB1,HLA-DRB6
 
 cucinotta_23_ASD_discovery_cases-case239
 
 
 Paternal
 
 
 HLA-DQA1,HLA-DRB1,HLA-DRA,HLA-DRB9,HLA-DRB5,HLA-DRB6,HLA-DQB3,HLA-DQB1,MTCO3P1,HLA-DQB1-AS1,RNU1-61P
 
 davis_12_ASD_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 HLA-DRB5
 
 engchuan_15_ASD_discovery_cases-case3099_8
 
 
 Unknown
 
 
 RN7SL26P,GGNBP1
 
 engchuan_15_ASD_discovery_cases-case4339_1
 
 
 Unknown
 
 
 HLA-DOA,RPL32P1,COL11A2P1,HLA-DPA3,HLA-DPA1,HLA-DPB1,HLA-DPA2,HLA-DPB2,HCG24
 
 engchuan_15_ASD_discovery_cases-case5353_3
 
 
 De novo
 
 
 MYL8P,LYPLA2P1,RPL35AP4,RPL12P1,PHF1,CUTA,KIFC1,SYNGAP1
 
 girirajan_11_ASD_discovery_cases-Si149
 
 
 Unknown
 Simplex
 
 BTNL2,RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,MTCO3P1,HLA-DQB3,HLA-DQA2,HLA-DRA,HLA-DRB9,HLA-DRB5,HLA-DRB6,HLA-DRB1,HCG23,HLA-DQA1
 
 girirajan_11_ASD_discovery_cases-Si175
 
 
 Unknown
 Simplex
 
 RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,MTCO3P1,HLA-DQB3,HLA-DQA2,MIR3135B,HLA-DQB2,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DQA1
 
 girirajan_11_ASD_discovery_cases-Si288
 
 
 Unknown
 Simplex
 
 RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,MTCO3P1,HLA-DQB3,HLA-DQA2,MIR3135B,HLA-DQB2,HLA-DRA,HLA-DRB9,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DQA1
 
 kanduri_15_ASD_discovery_cases-case1932
 
 
 De novo
 Unknown
 Unknown
 COL11A2
 
 kanduri_15_ASD_discovery_cases-case2974
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, HLA-DQB1(dist=3849),HLA-DQA2(dist=68827)
 
 kanduri_15_ASD_discovery_cases-case3076
 
 
 De novo
 Unknown
 Unknown
 HLA-DRB1
 
 krumm_15_ASD_discovery_cases-case11085.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case11184.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case11309.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 HLA-DQB1,HLA-DQB1-AS1,MTCO3P1,HLA-DQB3,HLA-DQA2,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case11352.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case11359.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 B3GALT4,WDR46
 
 krumm_15_ASD_discovery_cases-case11393.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 HLA-DQB1,HLA-DQB1-AS1,HLA-DRB1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case11673.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 HLA-DQB1,HLA-DQB1-AS1,HLA-DRB1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case12103.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case12106.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case12275.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case12383.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case12447.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case12933.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 HLA-DQB1
 
 krumm_15_ASD_discovery_cases-case13400.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,MTCO3P1,HLA-DQB3,HLA-DQA2,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case13487.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case13589.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 HLA-DQB1,HLA-DQB1-AS1,MTCO3P1,HLA-DQB3,HLA-DQA2,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case13800.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,HLA-DRA,HLA-DRB9,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case13852.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,HLA-DRA,HLA-DRB9,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case14201.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DQA1
 
 krumm_15_ASD_discovery_cases-case14371.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 larson_17_ASD_discovery_cases-case1
 
 
 Unknown
 
 Unknown
 RNY4P10,SLC39A7,HSD17B8,COL11A2,RXRB
 
 larson_17_ASD_discovery_cases-case11
 
 
 Unknown
 Simplex
 Unknown
 PHF1,CUTA,KIFC1,SYNGAP1
 
 larson_17_ASD_discovery_cases-case2
 
 
 Unknown
 Simplex
 Unknown
 RNY4P10,SLC39A7,HSD17B8,COL11A2,RXRB
 
 leblond_12_ASD_replication_cases-Pintocase5237_3
 
 
 Both parents
 
 
 RNU1-61P,HLA-DRB5,HLA-DRB6,HLA-DRB1
 
 newbury_12_ASD/CAS_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown (common in DGV)
 HLA-DRB5
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 
 
 Paternal
 Multi-generational
 Unknown
 RNU1-61P,HLA-DRB5,HLA-DRB6
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 
 
 Paternal
 Multi-generational
 Unknown
 RNU1-61P,HLA-DRB5,HLA-DRB6
 
 pinto_10_ASD_discovery_cases-case5138_3
 Agilent1M
 
 paternal
 NA
 NA
 TAP1,TAP2,HLA-DQA2,HLA-DQB2
 
 pinto_10_ASD_discovery_cases-case5353_3
 qPCR-Denovo
 
 De novo
 Simplex
 NA
 MYL8P,LYPLA2P1,RPL35AP4,RPL12P1,PHF1,CUTA,KIFC1,SYNGAP1
 
 poultney_13_ASD_discovery_cases-case00HI1659A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPS18
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PHF1,CUTA,KIFC1,SYNGAP1
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 B3GALT4,WDR46,MIR6873,MIR6834,VPS52,RPS18,PFDN6,RGL2
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNY4P10,SLC39A7,HSD17B8,RXRB
 
 poultney_13_ASD_discovery_cases-case99HI0868A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 B3GALT4,WDR46,MIR6873,MIR6834,VPS52,RPS18,PFDN6,RGL2
 
 prasad_12_ASD_discovery_cases-case101464
 
 
 Unknown
 Unknown
 Unknown
 SYNGAP1,CUTA,PHF1
 
 prasad_12_ASD_discovery_cases-case107437
 
 
 Unknown
 Unknown
 Unknown
 SYNGAP1,PHF1,CUTA,KIFC1
 
 prasad_12_ASD_discovery_cases-case64249L
 
 
 Unknown
 Unknown
 Unknown
 SYNGAP1,CUTA,PHF1
 
 prasad_12_ASD_discovery_cases-case96241
 
 
 Unknown
 Unknown
 Unknown
 SYNGAP1,CUTA,PHF1
 
 sanders_11_ASD_discovery_cases-11025.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP21A2
 
 sanders_11_ASD_discovery_cases-11037.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,TNXB
 
 sanders_11_ASD_discovery_cases-11047.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11051.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11074.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11090.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B
 
 sanders_11_ASD_discovery_cases-11128.p1
 
 
 Unknown
 Simplex (trio)
 NA
 C4A
 
 sanders_11_ASD_discovery_cases-11128.p1
 
 
 Unknown
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Maternal
 Simplex (trio)
 NA
 C4A
 
 sanders_11_ASD_discovery_cases-11132.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11148.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 CYP21A2
 
 sanders_11_ASD_discovery_cases-11159.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B
 
 sanders_11_ASD_discovery_cases-11206.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C2
 
 sanders_11_ASD_discovery_cases-11227.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-11233.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-11250.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11289.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11291.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11325.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11328.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 HLA-DPA1
 
 sanders_11_ASD_discovery_cases-11333.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11334.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,TNXB
 
 sanders_11_ASD_discovery_cases-11368.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11371.p1
 
 
 Both parents
 Simplex (trio)
 NA
 C4A
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C4B
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C4A
 
 sanders_11_ASD_discovery_cases-11396.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-11400.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11421.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11440.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B
 
 sanders_11_ASD_discovery_cases-11455.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11473.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,TNXB
 
 sanders_11_ASD_discovery_cases-11516.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-11552.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C2
 
 sanders_11_ASD_discovery_cases-11569.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-11583.p1
 
 
 Unknown
 Simplex (trio)
 NA
 HCG23
 
 sanders_11_ASD_discovery_cases-11584.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B
 
 sanders_11_ASD_discovery_cases-11590.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11609.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11641.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-11716.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,TNXB
 
 sanders_11_ASD_discovery_cases-11722.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-11828.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B
 
 sanders_11_ASD_discovery_cases-11893.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-11917.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C2
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,C4A
 
 sanders_11_ASD_discovery_cases-11979.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-11986.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-12030.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-12060.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C4A,STK19
 
 sanders_11_ASD_discovery_cases-12078.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-12097.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP21A2,TNXB
 
 sanders_11_ASD_discovery_cases-12119.p1
 
 
 Unknown
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-12144.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-12152.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-12175.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-12221.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 TNXB
 
 sanders_11_ASD_discovery_cases-12252.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-12255.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP21A2,TNXB
 
 sanders_11_ASD_discovery_cases-12260.p1
 
 
 Maternal
 Simplex (trio)
 NA
 C4A
 
 sanders_11_ASD_discovery_cases-12286.p1
 
 
 Both parents
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,TNXB
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Unknown
 Simplex (trio)
 NA
 C4A,STK19
 
 sanders_11_ASD_discovery_cases-12332.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12404.p1
 
 
 Maternal
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-12435.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-12460.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12517.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C2
 
 sanders_11_ASD_discovery_cases-12543.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Unknown
 Simplex (trio)
 NA
 C4B
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Unknown
 Simplex (trio)
 NA
 C4A
 
 sanders_11_ASD_discovery_cases-12622.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B
 
 sanders_11_ASD_discovery_cases-12624.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-12648.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 HLA-Z
 
 sanders_11_ASD_discovery_cases-12708.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B
 
 sanders_11_ASD_discovery_cases-12736.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-12784.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A,STK19
 
 sanders_11_ASD_discovery_cases-12859.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-12878.p1
 
 
 Unknown
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
 sanders_11_ASD_discovery_cases-12901.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C2
 
 sanders_11_ASD_discovery_cases-12916.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-12957.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-12964.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 HLA-Z
 
 sanders_11_ASD_discovery_cases-12975.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C2
 
 sanders_11_ASD_discovery_cases-12979.p1
 
 
 Unknown
 Simplex (trio)
 NA
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-13015.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-13036.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
 sanders_11_ASD_discovery_cases-13050.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 C4A
 
 sanders_11_ASD_discovery_cases-13051.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A,STK19
 
 sanders_11_ASD_discovery_cases-13072.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C4A,STK19
 
 sanders_11_ASD_discovery_cases-13104.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C2
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 RNU1-61P,HLA-DRB5,HLA-DRB6
 
 shen_10_ASD_discovery_cases-ASD-09-040
 
 
 De novo
 NA
 NA
 DDAH2,RNU6-850P,SAPCD1,SAPCD1-AS1,HSPA1L,HSPA1B,C6orf48,SNORD48,SNORD52,NEU1,C2-AS1,NELFE,MIR1236,DXO,C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,RNA5SP206,ATF6B,PRRT1,EGFL8,AGPAT1,MIR6721,RNF5,MIR6833,AGER,PBX2,CLIC1,MSH5,MSH5-SAPCD1,VWA7,VARS,LSM2,HSPA1A,SLC44A4,EHMT2-AS1,EHMT2,C2,ZBTB12,CFB,SKIV2L,C4A,C4B,FKBPL,PPT2,PPT2-EGFL8,GPSM3,NOTCH4,MPIG6B,STK19,TNXB,HCG23
 
 speevak_11_DD_discovery_cases-case1
 
 
 Unknown
 NA
 NA
 RNU1-61P,HLA-DRB5,HLA-DRB6,HLA-DRB1
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 HLA-DRB1
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 RNU1-61P,HLA-DRB9,HLA-DRB5,HLA-DRB6
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 HLA-DRB5
 
 writzl_13_ID/EP_discovery_cases-case1
 
 
 De novo (apparently)
 Simplex (apparently)
 Likely segregated
 RPL35AP4,RPL12P1,PHF1,CUTA,MIR5004,KIFC1,SYNGAP1-AS1,SYNGAP1
 
 yin_16_ASD_discovery_cases-case246
 
 
 Unknown
 Unknown
 Unknown
 HLA-DRB6
 
 yuan_23_ASD_discovery_cases-qma01967s000
 
 
 De novo
 
 
 CUTA,KIFC1,PHF1,SYNGAP1
 
 yuen_17_ASD_discovery_cases-case2-1205-003
 CNV not detected by WGS, identified via Illumina1M
 
 De novo
 Simplex
 Segregated
 MYL8P,LYPLA2P1,RPL35AP4,RPL12P1,PHF1,CUTA,KIFC1,SYNGAP1-AS1,SYNGAP1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
 
 
  Unknown
 
 
  HLA-DOA,RPL32P1,COL11A2P1,HLA-DPA3,HLA-DPA1,HLA-DPB1,HLA-DPA2,HLA-DPB2,HCG24
 
kanduri_15_ASD_discovery_controls-control_split1243
 
 
  Unknown
 
 
  HLA-DQA1,HLA-DQB1,HLA-DRB1
 
kanduri_15_ASD_discovery_controls-control_split1567
 
 
  Unknown
 
 
  HLA-DRB1
 
kanduri_15_ASD_discovery_controls-control_split1801
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, HLA-DQB1(dist=3849),HLA-DQA2(dist=68827)
 
kanduri_15_ASD_discovery_controls-control_split660
 
 
  Unknown
 
 
  HLA-DRB1
 
kanduri_15_ASD_discovery_controls-control_split858
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, HLA-DQB1(dist=3849),HLA-DQA2(dist=68827)
 
krumm_13_ASD_discovery_controls-control11220.s1
 
 
  Maternal
  Simplex
 
  CUTA
 
krumm_15_ASD_discovery_controls-control11045.s1
  Illumina 1M
 
  Paternal
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control11052.s1
  Illumina 1M
 
  De novo
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DRB1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control11085.s1
  Illumina 1M
 
  Maternal
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control11203.s1
  Illumina 1M
 
  Paternal
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control11372.s1
  Illumina 1MDuo
 
  De novo
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control11469.s1
  Illumina 1M
 
  Maternal
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control11543.s1
  Illumina 1MDuo
 
  De novo
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control11673.s1
  Illumina 1MDuo
 
  Paternal
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DRB1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control11797.s1
  Illumina 1MDuo
 
  Maternal
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control11964.s1
  Illumina 1MDuo
 
  Paternal
 
 
  COL11A2
 
krumm_15_ASD_discovery_controls-control12498.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,MTCO3P1,HLA-DQB3,HLA-DQA2,MIR3135B,HLA-DQB2,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DOB,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control12515.s1
  Illumina 1MDuo
 
  Paternal
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control12778.s1
  1M-Duov3
 
  De novo
 
 
  HLA-DQB1,HLA-DQB1-AS1,MTCO3P1,HLA-DQB3,HLA-DQA2,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control12925.s1
  Illumina 1MDuo
 
  Maternal
 
 
  BTNL2,RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,MTCO3P1,HLA-DQB3,HLA-DQA2,MIR3135B,HLA-DQB2,HLA-DRA,HLA-DRB9,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DOB,HCG23,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control13000.s1
  Omni2.5-4v1
 
  De novo
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control13191.s1
  1M-Duov3
 
  De novo
 
 
  HLA-DQB1,HLA-DQB1-AS1
 
krumm_15_ASD_discovery_controls-control13800.s1
  Omni2.5-4v1
 
  De novo
 
 
  RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,HLA-DRA,HLA-DRB9,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control13926.s1
  Omni2.5-4v1
 
  De novo
 
 
  HLA-DQB1,HLA-DQB1-AS1,HLA-DQA1
 
krumm_15_ASD_discovery_controls-control14201.s1
  Omni2.5-4v1
 
  De novo
 
 
  RNU1-61P,HLA-DQB1,HLA-DQB1-AS1,HLA-DRB5,HLA-DRB6,HLA-DRB1,HLA-DQA1
 
leblond_19_ASD_discovery_controls-controlPN400341
 
 
  Unknown
 
 
  RNU1-61P,HLA-DRB5,HLA-DRB6,HLA-DRB1
 
poultney_13_ASD_discovery_controls-control04C36726A
 
 
  Unknown
 
 
  HLA-DPA1
 
sanders_11_ASD_discovery_controls-11037.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11040.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11051.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B
 
sanders_11_ASD_discovery_controls-11077.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11083.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TNXA,STK19B,C4B-AS1,CYP21A2,C4B
 
sanders_11_ASD_discovery_controls-11107.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11152.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11168.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11184.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11189.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-11193.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-11214.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HCG24,COL11A2
 
sanders_11_ASD_discovery_controls-11220.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11227.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
sanders_11_ASD_discovery_controls-11233.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-11291.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11303.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP21A2,TNXB
 
sanders_11_ASD_discovery_controls-11316.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11329.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11350.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
sanders_11_ASD_discovery_controls-11368.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11396.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,TNXB
 
sanders_11_ASD_discovery_controls-11404.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11421.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11435.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B
 
sanders_11_ASD_discovery_controls-11435.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C4B
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11459.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11484.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11502.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11580.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11592.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-11600.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,C4A
 
sanders_11_ASD_discovery_controls-11625.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,C4A
 
sanders_11_ASD_discovery_controls-11722.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B
 
sanders_11_ASD_discovery_controls-11723.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11766.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,TNXB
 
sanders_11_ASD_discovery_controls-11793.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C4B
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-11913.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B
 
sanders_11_ASD_discovery_controls-11917.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP21A1P,TNXA
 
sanders_11_ASD_discovery_controls-11959.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP21A1P,TNXA
 
sanders_11_ASD_discovery_controls-12061.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-12091.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-12212.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-12252.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-12299.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12316.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-12373.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,STK19,TNXB
 
sanders_11_ASD_discovery_controls-12382.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP21A2
 
sanders_11_ASD_discovery_controls-12435.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-12440.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,CYP21A2,C4A,C4B,TNXB
 
sanders_11_ASD_discovery_controls-12517.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-12534.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-12602.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-12624.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-12648.s1
 
 
  Unknown
  Simplex (quad)
  NA
  HLA-Z
 
sanders_11_ASD_discovery_controls-12679.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B
 
sanders_11_ASD_discovery_controls-12703.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-12723.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-12796.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-12821.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C4A,STK19
 
sanders_11_ASD_discovery_controls-12859.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4B-AS1,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-12901.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-12975.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-13036.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-13051.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-13072.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C4A,STK19
 
sanders_11_ASD_discovery_controls-13077.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
 
sanders_11_ASD_discovery_controls-13104.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C2
 
sanders_11_ASD_discovery_controls-13144.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-13193.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C4A
 
sanders_11_ASD_discovery_controls-13251.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C4A,STK19
 

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