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1p36.33CNV Type: Deletion-Duplication


Largest CNV size: 170069 bp

Statistics Box:
Number of Reports: 26


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

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Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
NA
Deletion
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
 akter_23_ASD/ADHD/DD/ID_discovery_cases
  NA NA
 Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
 212
 Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
 NA
 68.40% Male
 647513
 1
 0
 1
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 1580000
 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
 10993
 1
 0
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 54
 0
 1
 1
 chaves_24_ASD/DD/ID_discovery_cases
  NA NA
 CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
 1012
 83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
 Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
 60.77% Male
 1195169
 1
 0
 1
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 36868
 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
 235368
 7
 14
 21
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 809129
 0
 2
 2
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 387211
 1
 1
 2
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1283514
 4
 2
 6
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 127880
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 43102
 0
 3
 3
 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
 51504
 2
 0
 2
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 15818
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 64946
 0
 1
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 44686
 0
 1
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 94000
 1
 0
 1
 peycheva_18_ID/EP_discovery_cases
  NA NA
 Patients referred by clinicians from major neurologic clinics in Bulgaria (47 cases with positive family history for developmental delay/intellectual disability and/or seizures, 45 sporadic cases)
 92
 Cases primarily presented with intellectual disability (99%) and epilepsy/seizures (96%), with some exhibiting behavioral abnormalities (43%), dysmorphic features (52%), delayed or absent speech (45%), microcephaly (15%), motor disorders (37%), and brain structural abnormalities (31%)
 Range, 1-22 years
 54.35% Male
 549000
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 150907
 2
 1
 3
 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)
 64020
 1
 2
 3
 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
 19810
 0
 1
 1
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 1248872
 1
 0
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 137148
 1
 2
 3
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 170069
 43
 33
 76
 van_der_zwaag_09_ASD_discovery_cases
 Samples and phenotypic data from ASD patients, Dept. of Child & Adolescent Psychiatry, UMC Utrcht
 105
 53 cases diagnosed with non-complex autism, 52 diagnosed with complex autism
 
 
 39900
 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
 226133
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 286841
 0
 6
 6
 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
 224083
 5
 14
 19
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 741847
 0
 4
 4
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 36530
 0
 1
 1
 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
 2940
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 21475
 1
 1
 2
 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
 51504
 1
 0
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 249341
 0
 2
 2
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 143927
 2
 2
 4
 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)
 19810
 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.
 
 88672
 24
 29
 53
 van_der_zwaag_09_ASD_discovery_controls
 Ethnically matched, unrelated, healthy volunteers recruited by Dept. of Neurology, UMC Utrecht
 267
 Controls
 
 
 0
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 226133
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 akter_23_ASD/ADHD/DD/ID_discovery_cases
  Bangladesh
 CMA
  Illumina Global Screening Array-24 BeadChip
 CNVPartition
 Illumina Genomestudio
 None
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 chaves_24_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 peycheva_18_ID/EP_discovery_cases
  Bulgarian
 aCGH
  Agilent SurePrint G3 Human CGH Microarray Kit, Agilent 4x180K, Agilent SurePrint G3 Unrestricted CGH ISCA v2 4x180K
 
 Agilent Feature Extraction v12.0.1.1, OGT Cytosure Interpret v4.3
 qPCR
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 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
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 van_der_zwaag_09_ASD_discovery_cases
  Dutch
 Solid phase hybridization
  HumanHap300 Beadchip
 
 BeadStudio genotyping V2.3.41
 qPCR
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
 
  qPCR
  van_der_zwaag_09_ASD_discovery_controls
  Dutch
  Solid phase hybridization
  HumanHap300 Beadchip
 
  BeadStudio genotyping V2.3.41
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  akter_23_ASD/ADHD/DD/ID_discovery_cases-case123
  NA NA
 2.42 yrs.
 M
 ASD and developmental delay
 Autism, speech delay, hyperactivity, communication problems, low response. Growth parameters: height 0.88 m, weight 13 kg, head circumference 50 cm. Family history: no data on familial consanguinity.
 
 899450
 1546962
  647513
 GRCh38
 Deletion
 No
  battaglia_13_DD/ID/ASD_discovery_cases-case1
 3 yrs. 9 mos.
 F
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Moderate-severe DD/ID
 874379
 2309380
  1435002
 GRCh38
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case6
 6 yrs.
 F
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Mild-moderate DD/ID
 629025
 2212719
  1583695
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-case1-0107-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 1843821
 1854813
  10993
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11533
 NA
 M
 ASD
 NA
 NA
 1669615
 1669669
  55
 GRCh38
 Duplication
 No
  chaves_24_ASD/DD/ID_discovery_cases-case611
  NA NA
 
 F
 Developmental delay and intellectual disability
 Developmental delay, dysmorphic facies, history of pre-maturity with macrocephaly.
 Intellectual disability
 914086
 2109254
  1195169
 GRCh38
 Deletion
 No
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 61723
 98590
  36868
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13003_43
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1689421
 1780259
  90839
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14031_580
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1887939
 1980379
  92441
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14061_1040
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 915810
 946653
  30844
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14069_1190
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1663759
 1696548
  32790
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16074_1571042001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1638499
 1696548
  58050
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16087_1571097001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1663759
 1696548
  32790
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case18095_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1638499
 1716463
  77965
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18153_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1663759
 1694348
  30590
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case18170_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1665581
 1696548
  30968
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21023_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1663759
 1705198
  41440
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3076_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1955080
 2085428
  130349
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4288_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1199862
 1366253
  166392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4530_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1886690
 2122058
  235369
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4530_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1663759
 1713469
  49711
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5000_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 794568
 850609
  56042
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5112_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1663759
 1705198
  41440
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5115_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 903175
 1054081
  150907
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5213_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1624591
 1727506
  102916
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5305_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1663759
 1696548
  32790
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5369_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2327034
 2489424
  162391
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case9657_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1663759
 1696548
  32790
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-25504100812
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 2110342
 2684249
  573908
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-49906107136
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 1875120
 2684249
  809130
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case22
 1 yr 11 mos.
 M
 Developmental delay
 Congenital heart disease (long QT syndrome). Karyotype: 9phqh, 22ps.
 Severe developmental delay
 1962016
 2349227
  387212
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case52
 4 yrs. 6 mos.
 M
 Developmental delay/intellectual disability and autism
 Autism. Karyotype: 9phqh.
 Developmental delay/intellectual disability
 2189307
 2339127
  149821
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001136
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 911300
 1084417
  173118
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001954
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 872305
 2047715
  1175411
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002523
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 832679
 1254039
  421361
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004922
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 2014739
  1170393
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005418
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2112214
 2241243
  129030
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005735
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 2131805
  1287459
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case13698.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13698. SRS score of 89.
 Full-scale IQ (FSIQ) score of 98.
 2175223
 2303103
  127881
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11296.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1665781
 1671631
  5851
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12613.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1308643
 1342484
  33842
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14260.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1047326
 1090428
  43103
 GRCh38
 Duplication
 Yes
  larson_17_ASD_discovery_cases-case25
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 1042434
 1093938
  51505
 GRCh38
 Deletion
 No
  larson_17_ASD_discovery_cases-case26
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 1042434
 1093938
  51505
 GRCh38
 Deletion
 No
  lee_17_ASD/DD/ID/MCA_discovery_cases-case41
 4 yrs.
 M
 Developmental delay
 Developmental delay
 
 2295160
 2310978
  15819
 GRCh38
 Triplication
 No
  levy_11_ASD_discovery_cases-11003.p1
 NA
 M
 ASD
 NA
 NA
 1069985
 1134930
  64946
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 24 yrs.
 M
 Schizophrenia
 Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
 Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
 1696479
 1741164
  44686
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam667Proband7712
 N/A
 M
 ASD
 Additional clinical profile info N/A
 No ID
 934063
 1028484
  94422
 GRCh38
 Deletion
 No
  peycheva_18_ID/EP_discovery_cases-case424
  NA NA
 4 yrs.
 F
 ID and epilepsy
 Language and communication evaluation: delayed speech. Motor and musculoskeletal evaluation: static ataxia, bilateral limb spasticity. Behavioral/psychiatric evaluation: hyperactivity. Epilepsy/seizures: generalized tonic-clonic seizures.
 Mild intellectual disability
 1221995
 1774753
  552759
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case2232_1
 NA
 M
 Autism
 Language delay, overall nondysmorphic appearance, macrocephalic, wide nasal bridge, partial transverse palmar crease on left hand, leaky gut, numerous food allergies, wears glasses for mild hypermetropia, no epilepsy, normal brain MRI
 Mild MR
 1370430
 1429557
  59128
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5000_3
 NA
 F
 ASD
 NA
 NA
 794568
 850609
  56042
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5115_3
 NA
 M
 ASD
 NA
 NA
 903175
 1054081
  150907
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case04HI3498A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1267301; NDAR ID NDAR_INVCF053GG3)
 
 943251
 974577
  31327
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3863A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1340303; NDAR ID NDAR_INVFV383HNG)
 
 1636682
 1640452
  3771
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case98HI0196A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU003704; NDAR ID NDAR_INVYT309PV5)
 
 935770
 999789
  64020
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case107433
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 1042334
 1062143
  19810
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_127
 13 yrs.
 F
 Intellectual disability and ADHD
 ADHD, hyperphagia, dysmorphic facial features, arachnodactyly, scoliosis, myopia, astigmatism
 Intellectual disability
 914086
 2166898
  1252813
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: no. Intellectual disability: no.
 1222897
 1353203
  130307
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 1227055
 1319461
  92407
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 1294390
 1431537
  137148
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11033.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
 1694348
 1734174
  39827
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11060.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
 1445187
 1490320
  45134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11064.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 129; verbal IQ, 86
 1449831
 1490320
  40490
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11093.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
 1705198
 1750935
  45738
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11097.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
 1705198
 1750935
  45738
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11113.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 83
 1445187
 1490320
  45134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11156.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
 1449831
 1490320
  40490
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11190.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
 1696366
 1750935
  54570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11194.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 88; verbal IQ, 98
 1479719
 1516389
  36671
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11201.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 78; verbal IQ, 44
 1689421
 1749003
  59583
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11208.p1
 14.4
 F
 Autism
 NA
 Full-scale IQ, 141; non-verbal IQ, 128; verbal IQ, 149
 1705198
 1749003
  43806
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11216.p1
 4.7
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
 1696366
 1750935
  54570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11234.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 115
 1663759
 1734174
  70416
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11242.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 1449831
 1490320
  40490
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11252.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
 1689421
 1734174
  44754
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11264.p1
 10.7
 F
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
 1445187
 1490320
  45134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11307.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 84; verbal IQ, 104
 1449831
 1490320
  40490
 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
 1689421
 1750935
  61515
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11339.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 62; verbal IQ, 93
 1694348
 1722233
  27886
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11345.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
 1705198
 1750935
  45738
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11372.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
 1281336
 1305643
  24308
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11378.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
 1479719
 1511945
  32227
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11383.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 95; verbal IQ, 95
 1679370
 1688102
  8733
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 2188394
 2201196
  12803
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 1203533
 1373602
  170070
 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
 1688102
 1750935
  62834
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11446.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
 1689421
 1752126
  62706
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11453.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
 1663759
 1727506
  63748
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11495.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
 1445187
 1490320
  45134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11552.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
 1705198
 1750935
  45738
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11563.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
 1705198
 1752126
  46929
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11568.p1
 13.5
 F
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
 1713469
 1716247
  2779
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11571.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
 1445187
 1496418
  51232
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11604.p1
 17.2
 F
 Autism
 NA
 Full-scale IQ, 18; non-verbal IQ, 23; verbal IQ 13
 1638499
 1696548
  58050
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11627.p1
 5.7
 M
 ASD
 NA
 Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
 1455243
 1516389
  61147
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11642.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
 1445187
 1496418
  51232
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11677.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
 1294063
 1305643
  11581
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11696.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
 1765220
 1780791
  15572
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11698.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
 1689421
 1749003
  59583
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11714.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
 1283420
 1305643
  22224
 GRCh38
 Deletion
 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
 1705198
 1750935
  45738
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11723.p1
 6.9
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
 1705198
 1734899
  29702
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11863.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
 1705198
 1750935
  45738
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11897.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
 1689421
 1750935
  61515
 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
 1689421
 1734899
  45479
 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
 1281336
 1307276
  25941
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12028.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
 1689421
 1722233
  32813
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 1694348
 1734899
  40552
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12066.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
 1689421
 1716463
  27043
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12093.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
 1696366
 1752126
  55761
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12099.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
 1449831
 1496418
  46588
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 1679370
 1705198
  25829
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12153.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
 1324404
 1342153
  17750
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12180.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
 1212978
 1243545
  30568
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12220.p1
 14.4
 F
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
 1663759
 1705198
  41440
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12228.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
 1705198
 1754601
  49404
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12231.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43
 1455243
 1496418
  41176
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 1225285
 1243545
  18261
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12287.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
 1705198
 1749003
  43806
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12310.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
 1689421
 1749003
  59583
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12323.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
 1482732
 1518541
  35810
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 1694348
 1752126
  57779
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12507.p1
 18
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
 1696366
 1750935
  54570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 1689421
 1749003
  59583
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12604.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
 1696366
 1752126
  55761
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12613.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
 1305337
 1342153
  36817
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12630.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 115; verbal IQ, 134
 1689421
 1750935
  61515
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12644.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
 1445187
 1496418
  51232
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
 1713469
 1750935
  37467
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12717.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 86
 1689421
 1752126
  62706
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12817.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
 1449831
 1496418
  46588
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12902.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 114; verbal IQ, 123
 1696366
 1752126
  55761
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12924.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
 1630781
 1696548
  65768
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 1663759
 1689421
  25663
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13001.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
 1479632
 1511945
  32314
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13048.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 1696366
 1749003
  52638
 GRCh38
 Duplication
 No
  van_der_zwaag_09_ASD_discovery_cases-subject027-003
 NA
 M
 Non-complex autism
 NA
 NA
 1192554
 1232438
  39900
 Unknown
 Deletion
 Yes
  yin_16_ASD_discovery_cases-case1
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 969215
 1195347
  226133
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  bacchelli_20_ASD_discovery_controls-control10455
  N/A
  F
  Control
  Control
 
  863579
  943364
  79786
  GRCh38
  Duplication
  No
  bacchelli_20_ASD_discovery_controls-control20087
  N/A
  M
  Control
  Control
 
  1203533
  1490373
  286841
  GRCh38
  Duplication
  No
  bacchelli_20_ASD_discovery_controls-control20115
  N/A
  M
  Control
  Control
 
  942176
  952432
  10257
  GRCh38
  Duplication
  No
  bacchelli_20_ASD_discovery_controls-control20115
  N/A
  M
  Control
  Control
 
  1331358
  1354783
  23426
  GRCh38
  Duplication
  No
  bacchelli_20_ASD_discovery_controls-control20148
  N/A
  F
  Control
  Control
 
  1331358
  1342453
  11096
  GRCh38
  Duplication
  No
  bacchelli_20_ASD_discovery_controls-control20155
  N/A
  M
  Control
  Control
 
  1281468
  1336428
  54961
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036001469_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1268558
  1370181
  101624
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036001873_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1268558
  1370181
  101624
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036021723_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1614225
  1696548
  82324
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB141230_1007874883
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1663759
  1696548
  32790
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB181979_0067949283
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1624591
  1705198
  80608
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB390299_1007840224
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1663759
  1694348
  30590
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB490963_1007853895
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1663759
  1782430
  118672
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB590669_1007852596
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1663759
  1694348
  30590
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB656745_1007841112
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1598026
  1750935
  152910
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB679348_1007851283
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1104646
  1199862
  95217
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB690307_1007841030
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1663759
  1696548
  32790
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB787117_1007854729
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1663759
  1696548
  32790
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB916240_1007854325
  N/A
  N/A
  Control
  No previous psychiatric history
 
  903175
  1127258
  224084
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900254_900254
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1638499
  1750935
  112437
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900339_900339
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1663759
  1705198
  41440
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900383_900383
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1011654
  1055307
  43654
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901085_901085
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1482732
  1516389
  33658
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901159_901159
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1663759
  1713469
  49711
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902879_902879
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1482732
  1527610
  44879
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-17203100441
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  1942402
  2684249
  741848
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-36607108778
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  2278387
  2684249
  405863
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-37904101339
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  2077059
  2684249
  607191
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-55209112484
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  1908702
  2547426
  638725
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split388
  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
 
  2119833
  2156362
  36530
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control13698.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13698. SRS score of 64.
 
  2184582
  2187522
  2941
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11333.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1654102
  1675592
  21491
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12939.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1299344
  1309851
  10508
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11003.s1
  NA
  F
  Control
  NA
  NA
  1069985
  1134930
  64946
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11138.s1
  NA
  M
  Control
  NA
  NA
  1869598
  2118938
  249341
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C35805A
  N/A
  M
  Control
  NIMH Control (NIMH ID 44983)
 
  1485780
  1629706
  143927
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C35805A
  N/A
  M
  Control
  NIMH Control (NIMH ID 44983)
 
  1637081
  1732525
  95445
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C36907A
  N/A
  M
  Control
  NIMH Control (NIMH ID 44280)
 
  1645325
  1707584
  62260
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C42046A
  N/A
  F
  Control
  NIMH Control (NIMH ID 15226)
 
  1217510
  1228795
  11286
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11055.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  1694348
  1749003
  54656
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11190.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  1705198
  1750935
  45738
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11194.s1
  10.7
  M
  Control (matched sibling)
  NA
  NA
  1479719
  1516389
  36671
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11208.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  2263678
  2281481
  17804
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11219.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  1696366
  1749003
  52638
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11234.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  1445187
  1482739
  37553
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11328.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  1689421
  1750935
  61515
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11346.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  1705198
  1750935
  45738
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11412.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  1694348
  1749003
  54656
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11413.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  1663759
  1696548
  32790
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11433.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  1281336
  1307276
  25941
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11437.s1
  18.4
  M
  Control (matched sibling)
  NA
  NA
  1449831
  1514366
  64536
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  1705198
  1750935
  45738
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11446.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  1479632
  1482739
  3108
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11453.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  1623847
  1716463
  92617
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11552.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  1713469
  1749003
  35535
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11563.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  1705198
  1753033
  47836
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  1689421
  1734899
  45479
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11569.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  1713469
  1749003
  35535
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11584.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  1663759
  1734174
  70416
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11622.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  1433219
  1516000
  82782
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11700.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  1689421
  1734899
  45479
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11722.s1
  9.8
  M
  Control (matched sibling)
  NA
  NA
  1689421
  1750935
  61515
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11723.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  1705198
  1734899
  29702
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11845.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  1689421
  1753033
  63613
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11855.s1
  15.9
  F
  Control (matched sibling)
  NA
  NA
  1689421
  1716463
  27043
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11868.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  1694348
  1750935
  56588
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11897.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  1696366
  1749003
  52638
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11917.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  1663759
  1715135
  51377
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11935.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  1206007
  1207482
  1476
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11986.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  1433219
  1496418
  63200
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11989.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  1696366
  1752126
  55761
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  1705198
  1750935
  45738
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12099.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  1452075
  1496418
  44344
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12220.s1
  16.1
  M
  Control (matched sibling)
  NA
  NA
  1663759
  1715135
  51377
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12300.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  1445187
  1496418
  51232
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12334.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  1689421
  1749003
  59583
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12356.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  1663759
  1705198
  41440
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12378.s1
  4.4
  M
  Control (matched sibling)
  NA
  NA
  1455243
  1496418
  41176
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12418.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  1689421
  1752126
  62706
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12456.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  1689421
  1753033
  63613
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12631.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  1689421
  1750935
  61515
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12644.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  1452075
  1496418
  44344
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12676.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  1665581
  1689421
  23841
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12924.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  1663759
  1696548
  32790
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12962.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  1663759
  1696548
  32790
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12976.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  1449831
  1496418
  46588
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13001.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  1479632
  1511945
  32314
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13023.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  1694348
  1753033
  58686
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13038.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  1689421
  1750935
  61515
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13053.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  1449831
  1490320
  40490
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13183.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  1212978
  1257135
  44158
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13195.s1
  10.1
  M
  Control (matched sibling)
  NA
  NA
  1713469
  1753033
  39565
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 akter_23_ASD/ADHD/DD/ID_discovery_cases-case123
 
 
 Unknown
 
 
 DVL1,SDF4,SSU72,AURKAIP1,MXRA8,ATAD3A,C1orf159,INTS11,MRPL20,HES4,VWA1,TAS1R3,CPTP,CCNL2,PLEKHN1,ATAD3B,PERM1,PUSL1,UBE2J2,ACAP3,B3GALT6,SAMD11,MRPL20-AS1,ATAD3C,TTLL10,LINC01342,TMEM240,KLHL17,AGRN,C1QTNF12,MIR200A,MIR200B,RNF223,ANKRD65,MIR429,TMEM88B,LINC02593,TTLL10-AS1,LINC01786,MIR6726,MIR6808,LINC01770,MIR6727,SCNN1D,TNFRSF4,NDUFB4P8,RN7SL657P,TNFRSF18,MRPL20-DT,ISG15,NOC2L
 
 battaglia_13_DD/ID/ASD_discovery_cases-case1
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,AGRN,PRKCZ
 
 battaglia_13_DD/ID/ASD_discovery_cases-case6
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 MTND1P23,MTND2P28,MTCO1P12,MTCO2P12,MTATP8P1,MTATP6P1,MTCO3P12,WBP1LP6,OR4F16,CICP3,RNU6-1199P,LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,AGRN,PRKCZ
 
 brandler_18_ASD_replication_cases-case1-0107-003
 No validation step reported
 
 Paternal
 
 
 GNB1
 
 celestino-soper_11_ASD_discovery_cases-11533
 
 
 Unknown
 Simplex
 NA
 SLC35E2B
 
 chaves_24_ASD/DD/ID_discovery_cases-case611
 
 
 Unknown
 
 
 CDK11B,DVL1,SDF4,SSU72,AURKAIP1,MXRA8,ATAD3A,C1orf159,INTS11,MRPL20,HES4,VWA1,NADK,TAS1R3,CPTP,CCNL2,PLEKHN1,ATAD3B,CFAP74,PERM1,PUSL1,UBE2J2,ACAP3,B3GALT6,SAMD11,MIB2,MRPL20-AS1,ATAD3C,CALML6,GNB1,GABRD,TTLL10,LINC01342,TMEM52,TMEM240,KLHL17,AGRN,C1QTNF12,MIR200A,MIR200B,RNF223,ANKRD65,MIR429,FNDC10,TMEM88B,CDK11A,SLC35E2B,LINC02593,TTLL10-AS1,PRKCZ,LINC01786,MIR6726,MIR6808,LINC01770,MIR6727,SCNN1D,TNFRSF4,NDUFB4P8,RN7SL657P,MMP23A,TNFRSF18,MMP23B,MRPL20-DT,SLC35E2A,ISG15,NOC2L
 
 chung_11_ASD_discovery_cases-proband
 
 
 Paternal
 Simplex
 NA
 OR4G11P,OR4F5
 
 engchuan_15_ASD_discovery_cases-case13003_43
 
 
 Unknown
 
 
 MMP23A,SLC35E2B,SLC35E2A,NADK,CDK11A
 
 engchuan_15_ASD_discovery_cases-case14031_580
 
 
 Unknown
 
 
 TMEM52,CALML6,GNB1,CFAP74
 
 engchuan_15_ASD_discovery_cases-case14061_1040
 
 
 Unknown
 
 
 SAMD11,NOC2L,LINC02593
 
 engchuan_15_ASD_discovery_cases-case14069_1190
 
 
 Unknown
 
 
 SLC35E2B
 
 engchuan_15_ASD_discovery_cases-case16074_1571042001
 
 
 Unknown
 
 
 CDK11B,SLC35E2B
 
 engchuan_15_ASD_discovery_cases-case16087_1571097001
 
 
 Unknown
 
 
 SLC35E2B
 
 engchuan_15_ASD_discovery_cases-case18095_301
 
 
 Unknown
 
 
 MMP23A,CDK11B,SLC35E2B,CDK11A
 
 engchuan_15_ASD_discovery_cases-case18153_301
 
 
 Unknown
 
 
 SLC35E2B
 
 engchuan_15_ASD_discovery_cases-case18170_302
 
 
 Unknown
 
 
 SLC35E2B
 
 engchuan_15_ASD_discovery_cases-case21023_1
 
 
 Unknown
 
 
 MMP23A,SLC35E2B,CDK11A
 
 engchuan_15_ASD_discovery_cases-case3076_4
 
 
 Unknown
 
 
 GABRD,CFAP74,PRKCZ
 
 engchuan_15_ASD_discovery_cases-case4288_1
 
 
 Unknown
 
 
 TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,PUSL1
 
 engchuan_15_ASD_discovery_cases-case4530_1
 
 
 Unknown
 
 
 TMEM52,GABRD,CALML6,GNB1,CFAP74,PRKCZ
 
 engchuan_15_ASD_discovery_cases-case4530_1
 
 
 Unknown
 
 
 MMP23A,SLC35E2B,CDK11A
 
 engchuan_15_ASD_discovery_cases-case5000_3
 
 
 Unknown
 
 
 LINC00115,FAM87B,LINC01128
 
 engchuan_15_ASD_discovery_cases-case5112_4
 
 
 Unknown
 
 
 MMP23A,SLC35E2B,CDK11A
 
 engchuan_15_ASD_discovery_cases-case5115_3
 
 
 Unknown
 
 
 KLHL17,PERM1,ISG15,SAMD11,NOC2L,PLEKHN1,HES4,LINC02593,AGRN
 
 engchuan_15_ASD_discovery_cases-case5213_3
 
 
 Unknown
 
 
 MMP23B,MMP23A,MIB2,CDK11B,SLC35E2B,SLC35E2A,CDK11A
 
 engchuan_15_ASD_discovery_cases-case5305_3
 
 
 Unknown
 
 
 SLC35E2B
 
 engchuan_15_ASD_discovery_cases-case5369_4
 
 
 Unknown
 
 
 RER1,PEX10,MORN1,PLCH2
 
 engchuan_15_ASD_discovery_cases-case9657_201
 
 
 Unknown
 
 
 SLC35E2B
 
 girirajan_13b_ASD_discovery_cases-25504100812
 
 
 Unknown
 Unknown
 Unknown
 PRKCZ-AS1,HES5,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,MORN1,PLCH2,MMEL1,TTC34,PRKCZ
 
 girirajan_13b_ASD_discovery_cases-49906107136
 
 
 Unknown
 Unknown
 Unknown
 TMEM52,GABRD,PRKCZ-AS1,HES5,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,PRKCZ
 
 iourov_12_ASD/ID/EP_discovery_cases-case22
 
 
 Unknown
 Unknown
 Unknown
 GABRD,PRKCZ-AS1,FAAP20,SKI,CFAP74,MORN1,PRKCZ
 
 iourov_12_ASD/ID/EP_discovery_cases-case52
 
 
 Unknown
 Unknown
 Unknown
 FAAP20,SKI,MORN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001136
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 KLHL17,PERM1,ISG15,RNF223,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,LINC02593,AGRN
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001954
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,AGRN
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002523
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC02593,TTLL10,AGRN
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004922
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,AGRN
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005418
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 PRKCZ-AS1,FAAP20,SKI,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005735
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,AGRN,PRKCZ
 
 krumm_13_ASD_discovery_cases-case13698.p1
 
 
 Maternal
 Simplex
 Not segregated
 PRKCZ-AS1,FAAP20,SKI,PRKCZ
 
 krumm_15_ASD_discovery_cases-case11296.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SLC35E2B
 
 krumm_15_ASD_discovery_cases-case12613.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 INTS11,MIR6727,TAS1R3,MIR6808,ACAP3,CPTP,DVL1,PUSL1
 
 krumm_15_ASD_discovery_cases-case14260.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 RNF223,C1orf159,AGRN
 
 larson_17_ASD_discovery_cases-case25
 
 
 Unknown
 
 Unknown
 RNF223,C1orf159,AGRN
 
 larson_17_ASD_discovery_cases-case26
 
 
 Unknown
 
 Unknown
 RNF223,C1orf159,AGRN
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case41
 
 
 Unknown
 
 
 SKI
 
 levy_11_ASD_discovery_cases-11003.p1
 
 
 Maternal
 Simplex
 Not segregated
 RNF223,C1orf159
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 
 
 Unknown
 Simplex
 Unknown
 MMP23A,SLC35E2A,CDK11A
 
 nava_13_ASD_discovery_cases-Fam667Proband7712
 
 
 Maternal
 Multiplex
 Unknown
 KLHL17,PERM1,ISG15,SAMD11,NOC2L,PLEKHN1,HES4,AGRN
 
 peycheva_18_ID/EP_discovery_cases-case424
 qPCR
 
 Unknown
 
 
 B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,PUSL1,VWA1,SSU72,CDK11A
 
 pinto_10_ASD_discovery_cases-case2232_1
 qPCR
 
 paternal
 NA
 NA
 ATAD3B, ATAD3C
 
 pinto_10_ASD_discovery_cases-case5000_3
 Agilent1M
 
 maternal
 NA
 NA
 LINC00115,FAM87B,LINC01128
 
 pinto_10_ASD_discovery_cases-case5115_3
 Agilent1M
 
 paternal
 NA
 NA
 KLHL17,PERM1,ISG15,SAMD11,NOC2L,PLEKHN1,HES4,LINC02593,AGRN
 
 poultney_13_ASD_discovery_cases-case04HI3498A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 KLHL17,SAMD11,NOC2L,PLEKHN1
 
 poultney_13_ASD_discovery_cases-case05HI3863A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CDK11B
 
 poultney_13_ASD_discovery_cases-case98HI0196A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 KLHL17,PERM1,SAMD11,NOC2L,PLEKHN1,HES4
 
 prasad_12_ASD_discovery_cases-case107433
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_127
 
 
 Unknown (not maternal)
 
 Unknown
 KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,AGRN,PRKCZ
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,PUSL1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
 qPCR (CNV not detected)
 
 Bi-parental
 Unknown
 Unknown
 B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,PUSL1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,ACAP3,CPTP,DVL1,MXRA8,CCNL2,PUSL1
 
 sanders_11_ASD_discovery_cases-11033.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MMP23A,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11060.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11064.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11093.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11097.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11113.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11156.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11190.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11194.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3B,ATAD3A
 
 sanders_11_ASD_discovery_cases-11201.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11208.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11216.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11234.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11242.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11252.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11264.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11307.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11328.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11339.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,CDK11A
 
 sanders_11_ASD_discovery_cases-11345.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11372.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 SCNN1D,MIR6726,ACAP3
 
 sanders_11_ASD_discovery_cases-11378.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3B
 
 sanders_11_ASD_discovery_cases-11383.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2B
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FAAP20
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,PUSL1
 
 sanders_11_ASD_discovery_cases-11440.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11446.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,NADK,CDK11A
 
 sanders_11_ASD_discovery_cases-11453.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11495.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11552.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11563.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2A,NADK,CDK11A
 
 sanders_11_ASD_discovery_cases-11568.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CDK11A
 
 sanders_11_ASD_discovery_cases-11571.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11604.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CDK11B,SLC35E2B
 
 sanders_11_ASD_discovery_cases-11627.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B,ATAD3A
 
 sanders_11_ASD_discovery_cases-11642.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-11677.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR6726,ACAP3
 
 sanders_11_ASD_discovery_cases-11696.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NADK
 
 sanders_11_ASD_discovery_cases-11698.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11714.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SCNN1D,MIR6726,ACAP3
 
 sanders_11_ASD_discovery_cases-11716.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11723.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11863.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11897.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11986.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SCNN1D,MIR6726,ACAP3
 
 sanders_11_ASD_discovery_cases-12028.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MMP23A,SLC35E2B,CDK11A
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-12066.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 MMP23A,SLC35E2B,CDK11A
 
 sanders_11_ASD_discovery_cases-12093.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MMP23A,SLC35E2A,NADK,CDK11A
 
 sanders_11_ASD_discovery_cases-12099.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MMP23A,SLC35E2B,CDK11A
 
 sanders_11_ASD_discovery_cases-12153.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 INTS11,TAS1R3,MIR6808,CPTP,DVL1
 
 sanders_11_ASD_discovery_cases-12180.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 B3GALT6,TNFRSF4,SDF4,C1QTNF12
 
 sanders_11_ASD_discovery_cases-12220.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,CDK11A
 
 sanders_11_ASD_discovery_cases-12228.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2A,NADK,CDK11A
 
 sanders_11_ASD_discovery_cases-12231.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 B3GALT6,SDF4,C1QTNF12
 
 sanders_11_ASD_discovery_cases-12287.p1
 
 
 Unknown
 Simplex (trio)
 NA
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-12310.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-12323.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3B,ATAD3A
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MMP23A,SLC35E2A,NADK,CDK11A
 
 sanders_11_ASD_discovery_cases-12507.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-12604.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MMP23A,SLC35E2A,NADK,CDK11A
 
 sanders_11_ASD_discovery_cases-12613.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 INTS11,MIR6727,TAS1R3,MIR6808,ACAP3,CPTP,DVL1,PUSL1
 
 sanders_11_ASD_discovery_cases-12630.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-12644.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-12715.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2A,CDK11A
 
 sanders_11_ASD_discovery_cases-12717.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MMP23A,SLC35E2B,SLC35E2A,NADK,CDK11A
 
 sanders_11_ASD_discovery_cases-12817.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3C,ATAD3B
 
 sanders_11_ASD_discovery_cases-12902.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2A,NADK,CDK11A
 
 sanders_11_ASD_discovery_cases-12924.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23B,CDK11B,SLC35E2B
 
 sanders_11_ASD_discovery_cases-12944.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35E2B
 
 sanders_11_ASD_discovery_cases-13001.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATAD3B
 
 sanders_11_ASD_discovery_cases-13048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MMP23A,SLC35E2A,CDK11A
 
 van_der_zwaag_09_ASD_discovery_cases-subject027-003
 qPCR
 
 De novo
 NA
 NA
 SDF4, B3GALT6, FAM132A, UBE2J2
 
 yin_16_ASD_discovery_cases-case1
 
 
 Unknown
 Unknown
 Unknown
 PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,PLEKHN1,HES4,C1orf159,TTLL10,AGRN
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10455
 
 
  Unknown
 
 
  TUBB8P11,FAM41C,SAMD11,LINC02593
 
bacchelli_20_ASD_discovery_controls-control20087
 
 
  Unknown
 
 
  TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20-AS1,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,PUSL1,VWA1
 
bacchelli_20_ASD_discovery_controls-control20115
 
 
  Unknown
 
 
  SAMD11,NOC2L
 
bacchelli_20_ASD_discovery_controls-control20115
 
 
  Unknown
 
 
  TAS1R3,MIR6808,DVL1,MXRA8
 
bacchelli_20_ASD_discovery_controls-control20148
 
 
  Unknown
 
 
  TAS1R3,MIR6808,DVL1
 
bacchelli_20_ASD_discovery_controls-control20155
 
 
  Unknown
 
 
  SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,ACAP3,CPTP,DVL1,PUSL1
 
engchuan_15_ASD_discovery_controls-control110036001469_
 
 
  Unknown
 
 
  SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,PUSL1
 
engchuan_15_ASD_discovery_controls-control110036001873_
 
 
  Unknown
 
 
  SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,PUSL1
 
engchuan_15_ASD_discovery_controls-control110036021723_
 
 
  Unknown
 
 
  MMP23B,MIB2,CDK11B,SLC35E2B
 
engchuan_15_ASD_discovery_controls-controlB141230_1007874883
 
 
  Unknown
 
 
  SLC35E2B
 
engchuan_15_ASD_discovery_controls-controlB181979_0067949283
 
 
  Unknown
 
 
  MMP23B,MMP23A,MIB2,CDK11B,SLC35E2B,CDK11A
 
engchuan_15_ASD_discovery_controls-controlB390299_1007840224
 
 
  Unknown
 
 
  SLC35E2B
 
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
 
 
  Unknown
 
 
  MMP23A,SLC35E2B,SLC35E2A,NADK,CDK11A
 
engchuan_15_ASD_discovery_controls-controlB590669_1007852596
 
 
  Unknown
 
 
  SLC35E2B
 
engchuan_15_ASD_discovery_controls-controlB656745_1007841112
 
 
  Unknown
 
 
  FNDC10,MMP23B,MMP23A,MIB2,CDK11B,SLC35E2B,SLC35E2A,CDK11A
 
engchuan_15_ASD_discovery_controls-controlB679348_1007851283
 
 
  Unknown
 
 
  LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,C1orf159,TTLL10
 
engchuan_15_ASD_discovery_controls-controlB690307_1007841030
 
 
  Unknown
 
 
  SLC35E2B
 
engchuan_15_ASD_discovery_controls-controlB787117_1007854729
 
 
  Unknown
 
 
  SLC35E2B
 
engchuan_15_ASD_discovery_controls-controlB916240_1007854325
 
 
  Unknown
 
 
  KLHL17,PERM1,ISG15,RNF223,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,LINC02593,AGRN
 
engchuan_15_ASD_discovery_controls-controlHABC_900254_900254
 
 
  Unknown
 
 
  MMP23A,CDK11B,SLC35E2B,SLC35E2A,CDK11A
 
engchuan_15_ASD_discovery_controls-controlHABC_900339_900339
 
 
  Unknown
 
 
  MMP23A,SLC35E2B,CDK11A
 
engchuan_15_ASD_discovery_controls-controlHABC_900383_900383
 
 
  Unknown
 
 
  ISG15,AGRN
 
engchuan_15_ASD_discovery_controls-controlHABC_901085_901085
 
 
  Unknown
 
 
  ATAD3B,ATAD3A
 
engchuan_15_ASD_discovery_controls-controlHABC_901159_901159
 
 
  Unknown
 
 
  MMP23A,SLC35E2B,CDK11A
 
engchuan_15_ASD_discovery_controls-controlHABC_902879_902879
 
 
  Unknown
 
 
  ATAD3B,ATAD3A
 
girirajan_13b_ASD_discovery_controls-17203100441
 
 
  Unknown
 
 
  GABRD,PRKCZ-AS1,HES5,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,CFAP74,MORN1,PLCH2,MMEL1,TTC34,PRKCZ
 
girirajan_13b_ASD_discovery_controls-36607108778
 
 
  Unknown
 
 
  HES5,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,MORN1,PLCH2,MMEL1,TTC34
 
girirajan_13b_ASD_discovery_controls-37904101339
 
 
  Unknown
 
 
  PRKCZ-AS1,HES5,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,MORN1,PLCH2,MMEL1,TTC34,PRKCZ
 
girirajan_13b_ASD_discovery_controls-55209112484
 
 
  Unknown
 
 
  TMEM52,GABRD,PRKCZ-AS1,HES5,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,CFAP74,MORN1,PLCH2,PRKCZ
 
kanduri_15_ASD_discovery_controls-control_split388
 
 
  Unknown
 
 
  C1orf86
 
krumm_13_ASD_discovery_controls-control13698.s1
 
 
  Maternal
  Simplex
 
  FAAP20,PRKCZ
 
krumm_15_ASD_discovery_controls-control11333.s1
  Illumina 1MDuo
 
  Maternal
 
 
  CDK11B,SLC35E2B
 
krumm_15_ASD_discovery_controls-control12939.s1
  Illumina 1MDuo
 
  De novo
 
 
  ACAP3,PUSL1
 
levy_11_ASD_discovery_controls-11003.s1
 
 
  Maternal
  Simplex
  NA
  RNF223,C1orf159
 
levy_11_ASD_discovery_controls-11138.s1
 
 
  Maternal
  Simplex
  NA
  TMEM52,GABRD,CALML6,GNB1,CFAP74,PRKCZ
 
poultney_13_ASD_discovery_controls-control04C35805A
 
 
  Unknown
 
 
  FNDC10,ATAD3B,ATAD3A,TMEM240,MIB2,SSU72
 
poultney_13_ASD_discovery_controls-control04C35805A
 
 
  Unknown
 
 
  MMP23A,CDK11B,SLC35E2B,SLC35E2A,CDK11A
 
poultney_13_ASD_discovery_controls-control04C36907A
 
 
  Unknown
 
 
  MMP23A,CDK11B,SLC35E2B,CDK11A
 
poultney_13_ASD_discovery_controls-control05C42046A
 
 
  Unknown
 
 
  SDF4
 
sanders_11_ASD_discovery_controls-11055.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11190.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11194.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATAD3B,ATAD3A
 
sanders_11_ASD_discovery_controls-11208.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SKI
 
sanders_11_ASD_discovery_controls-11219.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11234.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATAD3C,ATAD3B
 
sanders_11_ASD_discovery_controls-11328.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11346.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11412.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11413.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35E2B
 
sanders_11_ASD_discovery_controls-11433.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SCNN1D,MIR6726,ACAP3
 
sanders_11_ASD_discovery_controls-11437.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATAD3C,ATAD3B,ATAD3A
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11446.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATAD3B
 
sanders_11_ASD_discovery_controls-11453.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23B,MMP23A,MIB2,CDK11B,SLC35E2B,CDK11A
 
sanders_11_ASD_discovery_controls-11552.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11563.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35E2A,NADK,CDK11A
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11569.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11584.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11622.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01770,ATAD3C,ATAD3B,ATAD3A,VWA1
 
sanders_11_ASD_discovery_controls-11700.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11722.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11723.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11845.s1
  qPCR
 
  De Novo
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,NADK,CDK11A
 
sanders_11_ASD_discovery_controls-11855.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,CDK11A
 
sanders_11_ASD_discovery_controls-11868.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MMP23A,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11897.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-11917.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,CDK11A
 
sanders_11_ASD_discovery_controls-11935.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TNFRSF18
 
sanders_11_ASD_discovery_controls-11986.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01770,ATAD3C,ATAD3B,VWA1
 
sanders_11_ASD_discovery_controls-11989.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2A,NADK,CDK11A
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-12099.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATAD3C,ATAD3B
 
sanders_11_ASD_discovery_controls-12220.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,CDK11A
 
sanders_11_ASD_discovery_controls-12300.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATAD3C,ATAD3B
 
sanders_11_ASD_discovery_controls-12334.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-12356.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,CDK11A
 
sanders_11_ASD_discovery_controls-12378.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATAD3C,ATAD3B
 
sanders_11_ASD_discovery_controls-12418.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,NADK,CDK11A
 
sanders_11_ASD_discovery_controls-12456.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,NADK,CDK11A
 
sanders_11_ASD_discovery_controls-12631.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-12644.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATAD3C,ATAD3B
 
sanders_11_ASD_discovery_controls-12676.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35E2B
 
sanders_11_ASD_discovery_controls-12924.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35E2B
 
sanders_11_ASD_discovery_controls-12962.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35E2B
 
sanders_11_ASD_discovery_controls-12976.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATAD3C,ATAD3B
 
sanders_11_ASD_discovery_controls-13001.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATAD3B
 
sanders_11_ASD_discovery_controls-13023.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2A,NADK,CDK11A
 
sanders_11_ASD_discovery_controls-13038.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MMP23A,SLC35E2B,SLC35E2A,CDK11A
 
sanders_11_ASD_discovery_controls-13053.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATAD3C,ATAD3B
 
sanders_11_ASD_discovery_controls-13183.s1
 
 
  Unknown
  Simplex (quad)
  NA
  B3GALT6,TNFRSF4,SDF4,C1QTNF12,UBE2J2
 
sanders_11_ASD_discovery_controls-13195.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SLC35E2A,NADK,CDK11A
 

No Animal Model Data Available
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