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17q25.3CNV Type: Deletion-Duplication


Largest CNV size: 857063 bp

Statistics Box:
Number of Reports: 29


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Duplication
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
NA
Deletion-Duplication
NA
Duplication

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.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
NA
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 asadollahi_14_NDD_discovery_cases
 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
 714
 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
 N/A
 N/A
 134000
 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
 8000000
 0
 1
 1
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 1073
 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
 32869
 2
 1
 3
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 559000
 0
 2
 2
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 313407
 0
 1
 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
 829203
 3
 10
 13
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 564944
 1
 0
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 123473
 0
 1
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 345000
 0
 1
 1
 han_22_ASD/DD/ID_discovery_cases
  NA NA
 Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
 410
 151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
 Mean age, 2 yrs. 11 mos.
 68.78% Male
 5738742
 0
 1
 1
 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
 5037930
 6
 9
 15
 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
 11929
 2
 1
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 207283
 4
 3
 7
 lal_13_EP_discovery_cases
 Index patients with rolandic epilepsy screened for copy number variations in the RBFOX1, RBFOX2, and RBFOX3 genes
 289
 Diagnosis of rolandic epilepsy performed according to International Classification of Seizures and Epilepsies; 98 index cases from multiplex families, 191 index cases from simplex families.
 N/A
 N/A
 43000
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 247090
 1
 2
 3
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 857063
 0
 1
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 5731976
 1
 5
 6
 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
 
 
 829204
 1
 3
 4
 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)
 30137
 2
 0
 2
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 823196
 5
 3
 8
 sahajpal_23_ASD/DD/ID_discovery_cases
  NA NA
 Individuals with CNVs affecting the 17q25.3 locus containing at least one ASD candidate gene from the Greenwood Genetic Center from 2010 to 2022 (from an initial cohort of 15 cases with 17q25.3 CNVs).
 3
 Affected individuals presented with autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), learning disability, and/or multiple congenital anomalies.
 Range, 5 mos.-23 yrs.
 Male
 361934
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 349861
 1
 3
 4
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 236336
 9
 28
 37
 servetti_21_ASD/ID/EP_discovery_cases
  NA NA
 Individuals with complex neurodevelopmental disorder (NDD) phenotypes born to non-consanguineous parents, including one affected sib pair.
 12
 All 12 cases presented with varying degrees of intellectual disability (ID); four cases also presented with epilepsy, while three cases also presented with autism spectrum disorder (ASD).
 NA
 83.33% Male
 129000
 1
 0
 1
 vazna_08_ASD_discovery_cases
 Autistic female with mosaic ring chromosome 17 (83 out of 100 mitoses) and chromosome 17 monosomy (12 out of 100 mitoses), previously described in Havlovicova et al. 2007 report
 1
 Autism, moderate mental retardation, epilepsy, and neurofibromatosis. Diagnosis of autism confirmed by CARS and ADI-R.
 NA
 Female
 1000000
 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
 559766
 0
 4
 4
 yuan_23_ASD_discovery_cases
 ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
 369
 Cases diagnosed with ASD using DSM-IV.
 NA
 NA
 1390162
 0
 2
 2
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 859062
 1
 1
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_controls
 Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
 584
 Control (unaffected siblings from simplex quad families)
 N/A
 N/A
 109
 1
 0
 1
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 155087
 1
 5
 6
 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
 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
 101778
 2
 2
 4
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 239256
 2
 3
 5
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 247090
 0
 2
 2
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 1
 0
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 87668
 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)
 32970
 0
 2
 2
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 823196
 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.
 
 231957
 3
 27
 30
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
 N/A
 N/A
 12611
 0
 1
 1
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 559766
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 asadollahi_14_NDD_discovery_cases
  Predominantly European
 Array SNP
  Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
 HMM
 Affymetrix ChAS v.1.0.1
 MLPA
 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_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 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
 Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent 4x180K or 8x60K), qPCR
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 lal_13_EP_discovery_cases
  Germany
 Solid phase hybridization
  Illumina Infinium OmniExpress Exome BeadChip
 PennCNV
 Illumina Genome Viewer
 qPCR
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 FISH
 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
 qPCR
 sahajpal_23_ASD/DD/ID_discovery_cases
  United States
 Array SNP
  ThermoFisher CytoScan HD
 NA
 ThermoFisher ChAS v3.0
 qPCR
 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
 
 
 servetti_21_ASD/ID/EP_discovery_cases
  Italy
 aCGH
  Agilent Human Genome CGH 180K
 NA
 Agilent CytoGenomics
 None
 vazna_08_ASD_discovery_cases
  Czech Republic
 aCGH
  Nimblegen
 
 SignalMap
 long-range PCR, microsatellite analysis
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuan_23_ASD_discovery_cases
  China
 WES
  Illumina HiSeq
 NA
 GATK v.4.2.0.0.
 None
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_replication_controls
  N/A
  WGS
  Illumina HiSeq X10
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  None
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  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)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  asadollahi_14_NDD_discovery_cases-case62709
 N/A
 M
 NDD
 Case with unspecified neurodevelopmental disorder
 
 77905099
 78039487
  134389
 GRCh38
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case38
 9 yrs. 3 mos.
 M
 Developmental delay/intellectual disability and epilepsy
 Autism: no. Epilepsy: yes. Dysmorphic features: yes. Karyotype: maternally-transmitted t(17;21)(q25.3;q22.3) translocation.
 Severe DD/ID
 74922089
 83072065
  8149977
 GRCh38
 Duplication
 Yes
  brandler_18_ASD_discovery_cases-caseSSC07526
 N/A
 M
 ASD
 Case from SSC cohort
 
 81155684
 81156757
  1074
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11089
 NA
 M
 ASD
 NA
 NA
 81251234
 81251294
  61
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11186
 NA
 M
 ASD
 NA
 NA
 81053576
 81086445
  32870
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11345
 NA
 M
 ASD
 NA
 NA
 80291644
 80291837
  194
 GRCh38
 Duplication
 No
  chen_17_ASD_discovery_cases-caseU-1999
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 7 (past score 22); Qualitative abnormalities in verbal and nonverbal communication, current score 8 (past score 18); Qualitative abnormalities in nonverbal communication, current score 0 (past score 7); Restricted, repetitive, and stereotyped patterns of behaviour, current score 7 (past score 8); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 79; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 30. Epilepsy: no history of epilepsy.
 Performance IQ 95, Verbal IQ 88, Full-scale IQ 90
 80977353
 81538598
  561246
 GRCh38
 Duplication
 Yes
  chen_17_ASD_discovery_cases-caseU-1999
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 7 (past score 22); Qualitative abnormalities in verbal and nonverbal communication, current score 8 (past score 18); Qualitative abnormalities in nonverbal communication, current score 0 (past score 7); Restricted, repetitive, and stereotyped patterns of behaviour, current score 7 (past score 8); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 79; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 30. Epilepsy: no history of epilepsy.
 Performance IQ 95, Verbal IQ 88, Full-scale IQ 90
 81652196
 82221115
  568920
 GRCh38
 Duplication
 Yes
  egger_14_ASD_discovery_cases-caseA79
 N/A
 N/A
 ASD
 CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 
 74912218
 75225624
  313407
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14136_2340
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 79363311
 79399543
  36233
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14159_2600
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 78356134
 78450607
  94474
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14398_5070
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 82365346
 82450939
  85594
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4038_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 79367625
 79398249
  30625
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4152_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 79369452
 79399543
  30092
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4174_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 77807485
 77865571
  58087
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4403_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 77487446
 77717652
  230207
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5206_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 79360933
 79397955
  37023
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5444_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 82234774
 82298552
  63779
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case5444_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 81364669
 82231102
  866434
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case5448_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 79360933
 79397955
  37023
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6122_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 80312377
 80353945
  41569
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6164_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 82209113
 82251057
  41945
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000013
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S17
 N/A
 82587113
 83162164
  575052
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case647-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 82887800
 83011273
  123474
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13759.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 82628835
 82968835
  340001
 GRCh38
 Duplication
 No
  han_22_ASD/DD/ID_discovery_cases-case15D778
  NA NA
 6 mos. 29 days
 M
 Developmental delay/Intellectual disability
 
 
 77345321
 83084062
  5738742
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000454
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 78092236
 83086677
  4994442
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000926
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 78901959
 83086677
  4184719
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82962359
 83086677
  124319
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001023
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82884871
 83086677
  201807
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001112
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82549058
 83086677
  537620
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001959
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82588128
 83061939
  473812
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002067
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 78918650
 83021095
  4102446
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002184
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82588128
 83061939
  473812
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002339
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 81885863
 82358856
  472994
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002363
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82078456
 82568008
  489553
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004359
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82821407
 83086677
  265271
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004364
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82523093
 83072065
  548973
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004447
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 80328106
 83086677
  2758572
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004836
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 78338863
 78426117
  87255
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005211
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82625321
 83086818
  461498
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11220.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 11220. SRS score of 75.
 Full-scale IQ (FSIQ) score of 80.
 80214614
 80215138
  525
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case12424.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12424. SRS score of 63.
 Full-scale IQ (FSIQ) score of 69.
 82193755
 82195364
  1610
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case13601.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13601. SRS score of 85.
 Full-scale IQ (FSIQ) score of 78.
 78202498
 78214427
  11930
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11160.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 78479024
 78492765
  13742
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11206.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 80393344
 80422245
  28902
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11212.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 82698454
 82832454
  134001
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11284.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 82519888
 82727171
  207284
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13076.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 82424393
 82428645
  4253
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14208.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 82601302
 82625488
  24187
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14224.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 78097744
 78146911
  49168
 GRCh38
 Duplication
 Yes
  lal_13_EP_discovery_cases-caseE103
 N/A
 F
 Epilepsy
 Epilepsy/seizures: rolandic epilepsy; nocturnal generalized tonic-clonic seizures; postictal speech arrest. Developmental milestones: normal global development, normal speech acquisition. Family history: sibling with clonic-tonic seizures (EEG trait only), normal global development, and normal speech acquisition.
 Normal global development
 N/A
 N/A
  43000
 GRCh37
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11186.p1
 NA
 M
 ASD
 NA
 NA
 81043903
 81092715
  48813
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11284.p1
 NA
 M
 ASD
 NA
 NA
 82486468
 82733557
  247090
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12561.p1
 NA
 M
 ASD
 NA
 NA
 80436857
 80477317
  40461
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-SK0298-003
 NA
 M
 ASD
 NA
 NA
 81325684
 82219976
  894293
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-249912
 N/A
 F
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 77320131
 83090313
  5770183
 GRCh38
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-260556
 N/A
 F
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 78855535
 78891165
  35631
 GRCh38
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC10113
 N/A
 F
 DD/ID/MCA
 Database: Signature. Indication for study: Not Specified
 
 78277024
 80832964
  2555941
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC24735
 N/A
 M
 Developmental delay
 Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, karyotype: der(13)t(13;17) w/~4Mb 17q del
 Developmental delay
 78933419
 83186833
  4253415
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC54808
 N/A
 M
 Epilepsy
 Database: Signature. Indication for study: Epilepsy
 
 80100310
 80262499
  162190
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC8654
 N/A
 M
 Dysmorphic features
 Database: Signature. Indication for study: Cleft Palate, karyotype: der(21)t(17;21) w/~7Mb 21q del
 
 77778466
 82900585
  5122120
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5444_3
 NA
 M
 Autism
 Below average language (1%ile), regression of language and motor skills at age 3 y, myoclonic epilepsy, selfinjurious behavior, sleep disorder (altered circadian rhythm according to parents), no dysmorphic features
 MR (unable to complete IQ measure)
 82234774
 82298552
  63779
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5444_3
 NA
 M
 Autism
 Below average language (1%ile), regression of language and motor skills at age 3 y, myoclonic epilepsy, selfinjurious behavior, sleep disorder (altered circadian rhythm according to parents), no dysmorphic features
 MR (unable to complete IQ measure)
 81364669
 82231102
  866434
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5448_5
 NA
 F
 ASD
 NA
 NA
 79360933
 79397955
  37023
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case6164_3
 NA
 F
 Autism
 Language delay, normal physical exam, normal brain MRI
 Mild MR
 82209113
 82251057
  41945
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case01HI1953A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU078505; NDAR ID NDAR_INVGY956VEE)
 
 81510688
 81512356
  1669
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI4274A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1592302; NDAR ID NDAR_INVHM545DT4)
 
 82394369
 82424505
  30137
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case103022L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 77787043
 77848138
  61096
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case103022L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 76954071
 77777266
  823196
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case103818L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 74398583
 74447566
  48984
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case144008
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 72949163
 73006603
  57441
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case52335
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 73755108
 73766569
  11462
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case76066
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 78025820
 78039255
  13436
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-caseL656
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 75978438
 76011105
  32668
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseL656
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 74244500
 74290705
  46206
 Unknown
 Deletion
 No
  sahajpal_23_ASD/DD/ID_discovery_cases-case2
  NA NA
 23 yrs.
 M
 ASD, developmental delay, and intellectual disability
 ASD, developmental delay, low muscle tone, posterior cerebellar artery syndrome, receding hairline, narrow nasal bridge, deep philtrum, flat feet arches. Family history was notable for a maternal first cousin with speech delay and his maternal half uncle and his daughter who were both diagnosed with ASD.
 Intellectual disability
 82232231
 82594164
  361934
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 81710720
 82086850
  376131
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 81132205
 81210098
  77894
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 81070484
 81199384
  128901
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 81248531
 81282974
  34444
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11067.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 128; verbal IQ, 121
 79370427
 79395063
  24637
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 79371574
 79393019
  21446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11160.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
 78481672
 78484296
  2625
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11212.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
 82695073
 82831752
  136680
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 80215164
 80219453
  4290
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11239.p1
 17.3
 F
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 109; verbal IQ, 140
 78366809
 78372680
  5872
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11246.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
 79370427
 79397520
  27094
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11274.p1
 11.6
 F
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
 79369452
 79395063
  25612
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11284.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125
 82491678
 82728014
  236337
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11298.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 141; non-verbal IQ, 132; verbal IQ, 143
 79369452
 79397520
  28069
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11343.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
 79368997
 79398249
  29253
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11359.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
 79371574
 79397520
  25947
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11429.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
 78582226
 78599049
  16824
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11654.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 47
 79371574
 79397520
  25947
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11812.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
 79369452
 79395063
  25612
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11825.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
 79369452
 79395063
  25612
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11883.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
 79371574
 79397520
  25947
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11910.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 113
 81713644
 81720863
  7220
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 79368997
 79395063
  26067
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11995.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
 79371574
 79393019
  21446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12008.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
 79369452
 79397520
  28069
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12038.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 83; verbal IQ, 60
 79369452
 79397520
  28069
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12048.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
 79372964
 79397520
  24557
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 79049319
 79056880
  7562
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12235.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
 79370427
 79398249
  27823
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12240.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
 79368997
 79397520
  28524
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12334.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 81006575
 81019717
  13143
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12376.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
 79370427
 79395063
  24637
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12385.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 55; verbal IQ, 58
 79369452
 79393019
  23568
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12440.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 79368997
 79397520
  28524
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12462.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
 79369452
 79397520
  28069
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12472.p1
 5.6
 F
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
 79369452
 79399543
  30092
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12558.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
 82076567
 82081605
  5039
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12561.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
 80436546
 80493611
  57066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12799.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 49
 79370427
 79397520
  27094
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12827.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
 77615534
 77619702
  4169
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12916.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 78; verbal IQ, 97
 79370427
 79389061
  18635
 GRCh38
 Duplication
 No
  servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC14
  NA NA
 NA
 M
 Intellectual disability
 Aggressive behavior, Chiari I malformation, mild skull base abnormality.
 Intellectual disability, learning disorder
 78423785
 78552784
  129000
 GRCh38
 Deletion
 No
  vazna_08_ASD_discovery_cases-case1
 NA
 F
 Autism
 Diagnosis of atypical autism (CARS score combined with ADI-R results confirmed diagnosis). Additional diagnoses of neurofibromatosis and atypical absence epilepsy. Additional characteristics: growth retardation; microcephaly; mild facial dysmorphism (brachycephaly, bitemporal narrowing, wide nasal bridge, narrow palpebral fissures, epicanthal folds, thin upper lip, widely spaced teeth, down-turned mouth corners, low-set dysplastic ears); scoliosis; cafe-au-lait spots, inguinal freckling; leukoderma. Developmental milestones: delayed psychomotor development (sitting with support from 1 year, first steps form 18 months); slightly delayed speech development (1st words after 1 year, simple sentences after 3 years, severe dyslalia). Karyotype: mosaic ring chromosome 17 (83 out of 100 mitoses) and chromosome 17 monosomy (12 out of 100 mitoses) [detected by G-banded karyotyping; further analyzed by FISH and MLPA]. Family history: no family history of neurofibromatosis or mental retardation; maternal cousin of case's mother with epilepsy. Originally reported in Havlovicova et al. 2007 study; since that report, growth retardation increased, seizures had become more severe, and dermatological & behavioral symptoms worsened.
 Moderate mental retardation (IQ 45)
 82251045
 83103577
  852533
 GRCh38
 Mosaic deletion
 Yes
  yin_16_ASD_discovery_cases-case523
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 80129214
 80169642
  40429
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case524
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 80250018
 80343642
  93625
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case525
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 80977353
 81538598
  561246
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case526
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 81652196
 82221115
  568920
 GRCh38
 Duplication
 No
  yuan_23_ASD_discovery_cases-qma01334s000
 NA
 NA
 ASD
 Case diagnosed with ASD according to DSM-IV criteria.
 
 80210203
 80223587
  13385
 GRCh38
 Duplication
 No
  yuan_23_ASD_discovery_cases-qma01806d000
 NA
 NA
 ASD
 Case diagnosed with ASD according to DSM-IV criteria.
 
 80470562
 81860723
  1390162
 GRCh38
 Duplication
 No
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0298-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 82232233
 82294880
  62648
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0298-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 81356817
 82231802
  874986
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_controls-controlSSC10822
  N/A
  M
  control
  Control from SSC_phase2 cohort
 
  82098664
  82098772
  109
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110030109052_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  79363311
  79395063
  31753
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036019271_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  79363311
  79395063
  31753
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB158364_0057061610
  N/A
  N/A
  Control
  No previous psychiatric history
 
  82678506
  82833593
  155088
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB542076_0067942602
  N/A
  N/A
  Control
  No previous psychiatric history
 
  79195936
  79238589
  42654
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB944304_1007853858
  N/A
  N/A
  Control
  No previous psychiatric history
 
  82081605
  82199890
  118286
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB957019_1007844002
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83070585
  83102004
  31420
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11220.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11220. SRS score of 41.
 
  80214614
  80215138
  525
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control12691.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12691. SRS score N/A.
 
  80248129
  80349906
  101778
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12937.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12937. SRS score of 46.
 
  81869172
  81869406
  235
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control13601.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13601. SRS score of 40.
 
  78202702
  78206050
  3349
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11206.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  80393344
  80422245
  28902
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11284.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  82487915
  82727171
  239257
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13839.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  82127691
  82128597
  907
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13982.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  81245555
  81253240
  7686
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14224.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  78097744
  78146911
  49168
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11284.s1
  NA
  F
  Control
  NA
  NA
  82486468
  82733557
  247090
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12561.s1
  NA
  F
  Control
  NA
  NA
  80436857
  80477317
  40461
  GRCh38
  Duplication
  No
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control47
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  GRCh37
  Deletion
  N/A
  nord_11_ASD_discovery_controls-04C27513
 
 
  Control
 
 
  75334742
  75422409
  87668
  Unknown
  Duplication
 
  nord_11_ASD_discovery_controls-04C28230
 
 
  Control
 
 
  75692141
  75728222
  36082
  Unknown
  Duplication
 
  poultney_13_ASD_discovery_controls-control05C40144A
  N/A
  F
  Control
  NIMH Control (NIMH ID 33099)
 
  81844010
  81869408
  25399
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C45035
  N/A
  M
  Control
  NIMH Control (NIMH ID 17924)
 
  81855451
  81888420
  32970
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11004.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  79370427
  79397520
  27094
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11028.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  79369452
  79397520
  28069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11220.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  80215164
  80221973
  6810
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11246.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  79370427
  79397955
  27529
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11274.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  79369452
  79395063
  25612
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11284.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  82496057
  82728014
  231958
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11298.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  79369452
  79397520
  28069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11414.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  78495112
  78502762
  7651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11450.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  79369452
  79397520
  28069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11459.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  79369452
  79397520
  28069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11557.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  79371574
  79397520
  25947
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11654.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  79371574
  79397520
  25947
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11812.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  79369452
  79397520
  28069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11855.s1
  15.9
  F
  Control (matched sibling)
  NA
  NA
  77857823
  77865571
  7749
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11883.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  79370427
  79397520
  27094
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11897.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  79370427
  79397520
  27094
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  79369452
  79397520
  28069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12240.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  79369452
  79397520
  28069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12360.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  79369452
  79397520
  28069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12376.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  79369452
  79395063
  25612
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12440.s1
  5.1
  F
  Control (matched sibling)
  NA
  NA
  79368997
  79397520
  28524
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12444.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  82960820
  83089832
  129013
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12444.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  79370427
  79395063
  24637
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12561.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  80441868
  80473534
  31667
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12603.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  83083201
  83102004
  18804
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12648.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  79370427
  79397520
  27094
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12690.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  79369452
  79397520
  28069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12691.s1
  23.8
  M
  Control (matched sibling)
  NA
  NA
  80248862
  80350459
  101598
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12799.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  79370427
  79397520
  27094
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12916.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  79370427
  79397520
  27094
  GRCh38
  Duplication
  No
  stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
 
  81187772
  81200382
  12611
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 asadollahi_14_NDD_discovery_cases-case62709
 MLPA
 
 Paternal
 Unknown
 Unknown
 RNU1-80P,TNRC6C
 
 battaglia_13_DD/ID/ASD_discovery_cases-case38
 FISH or qPCR
 
 Maternal
 Unknown
 Unknown
 USH1G,OTOP2,MRPL58,RNU6-362P,ATP5PD,RN7SL573P,TRIM80P,NT5C,MRPS7,MIR3678,RNU6-938P,MIR6785,TSEN54,SMIM5,SMIM6,H3F3B,MIR4738,WBP2,MRPL38,ZACN,GALR2,MIR6868,ATP5MGP6,ATF4P3,RNU6-24P,RPL7P49,SNORD1C,SNORD1B,SNORD1A,RNU6-227P,RNY4P36,METTL23,SRSF2,MIR636,RNU6-97P,LINC02080,SCARNA16,MIR6516,RNU4-47P,CYCSP40,MIR4316,LINC01973,RNU1-80P,UBE2V2P2,RNU6-625P,TNRC6C-AS1,EIF5AP2,SYNGR2,SOCS3,RN7SL236P,RN7SL454P,RNU6-638P,RPL9P29,LGALS3BP,MIR4739,CBX2,CBX8,LINC01977,MIR1268B,EIF4A3,MIR4730,NPTX1,RPL32P31,RPL31P7,RPL12P37,BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,MIR6787,LINC01970,CD7,UTS2R,NARF-IT1,MIR4525,OTOP3,HID1,CDR2L,KCTD2,ARMC7,JPT1,SUMO2,GGA3,MIF4GD,SLC25A19,CASKIN2,LLGL2,MYO15B,SAP30BP,ITGB4,UNK,UNC13D,TRIM47,FBF1,ACOX1,TEN1,TEN1-CDK3,CDK3,SRP68,EXOC7,FOXJ1,UBALD2,PRPSAP1,SPHK1,AANAT,RHBDF2,SNHG16,ST6GALNAC2,ST6GALNAC1,JMJD6,MFSD11,LINC00868,SNHG20,TMC8,C17orf99,TK1,AFMID,BIRC5,TMEM235,LINC01993,DNAH17-AS1,USP36,CEP295NL,CANT1,C1QTNF1-AS1,ENGASE,LINC02078,ENPP7,CBX4,LINC01979,LINC01978,GAA,CARD14,SLC26A11,ENDOV,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,WDR45B,RAB40B,FN3KRP,FN3K,HID1-AS1,SLC16A5,NUP85,GRB2,RECQL5,GALK1,TRIM65,EVPL,RNF157-AS1,RNF157,QRICH2,UBE2O,MXRA7,MGAT5B,SEC14L1,SEPT9,LINC01987,TNRC6C,TMC6,THA1P,PGS1,DNAH17,CYTH1,TIMP2,C1QTNF1,RBFOX3,TBC1D16,CCDC40,SGSH,RNF213,CHMP6,AATK,SLC38A10,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57,CYBC1,FOXK2,B3GNTL1,CYGB,PRCD,RPTOR,TBCD,ZNF750,TMEM94
 
 brandler_18_ASD_discovery_cases-caseSSC07526
 Not available
 
 Unknown
 
 
 AATK
 
 celestino-soper_11_ASD_discovery_cases-11089
 aCGH (Agilent 4x180K or 8x60K), PCR
 
 Inherited
 Simplex
 NA
 SLC38A10
 
 celestino-soper_11_ASD_discovery_cases-11186
 Solid phase hybridization (Illumina 1M SNP), qPCR
 
 De novo
 Simplex
 NA
 BAIAP2
 
 celestino-soper_11_ASD_discovery_cases-11345
 
 
 Unknown
 Simplex
 NA
 RNF213
 
 chen_17_ASD_discovery_cases-caseU-1999
 RT-qPCR
 
 De novo
 Simplex
 Likely segregated
 BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,CHMP6,AATK,SLC38A10,BAHCC1
 
 chen_17_ASD_discovery_cases-caseU-1999
 RT-qPCR
 
 De novo
 Simplex
 Likely segregated
 OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57
 
 egger_14_ASD_discovery_cases-caseA79
 
 
 Unknown
 
 Unknown
 hCG_1776007
 
 engchuan_15_ASD_discovery_cases-case14136_2340
 
 
 Unknown
 
 
 RBFOX3
 
 engchuan_15_ASD_discovery_cases-case14159_2600
 
 
 Unknown
 
 
 SOCS3,RN7SL236P,PGS1,DNAH17
 
 engchuan_15_ASD_discovery_cases-case14398_5070
 
 
 Unknown
 
 
 UTS2R,OGFOD3,CYBC1
 
 engchuan_15_ASD_discovery_cases-case4038_1
 
 
 Unknown
 
 
 RBFOX3
 
 engchuan_15_ASD_discovery_cases-case4152_1
 
 
 Unknown
 
 
 RBFOX3
 
 engchuan_15_ASD_discovery_cases-case4174_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4403_1
 
 
 Unknown
 
 
 SEPT9
 
 engchuan_15_ASD_discovery_cases-case5206_3
 
 
 Unknown
 
 
 RBFOX3
 
 engchuan_15_ASD_discovery_cases-case5444_3
 
 
 De novo
 
 
 MIR6787,LINC01970,SLC16A3,CSNK1D
 
 engchuan_15_ASD_discovery_cases-case5444_3
 
 
 De novo
 
 
 MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57
 
 engchuan_15_ASD_discovery_cases-case5448_5
 
 
 Unknown
 
 
 RBFOX3
 
 engchuan_15_ASD_discovery_cases-case6122_5
 
 
 Unknown
 
 
 RNF213
 
 engchuan_15_ASD_discovery_cases-case6164_3
 
 
 Unknown
 
 
 MIR6787,SLC16A3,CSNK1D,CCDC57
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000013
 
 
 De novo
 Unknown
 Unknown
 MIR4525,WDR45B,RAB40B,FN3KRP,FN3K,METRNL,FOXK2,B3GNTL1,TBCD,ZNF750
 
 gazzellone_14_ASD_discovery_cases-case647-3
 
 
 Unknown
 Unknown
 Unknown
 B3GNTL1,TBCD
 
 girirajan_13a_ASD_discovery_cases-13759.p1
 
 
 Unknown
 Simplex
 Unknown
 MIR4525,WDR45B,RAB40B,FN3KRP,FN3K,FOXK2,B3GNTL1,TBCD,ZNF750
 
 han_22_ASD/DD/ID_discovery_cases-case15D778
 
 
 De novo
 
 
 BIRC5,CD7,ARHGDIA,ACTG1,FASN,CSNK1D,SLC25A10,EIF5AP2,NARF,DCXR,SIRT7,ANAPC11,CCDC40,NPLOC4,RNF213,RPTOR,USP36,WDR45B,BAHCC1,TNRC6C,CBX8,OGFOD3,ASPSCR1,CYBC1,CHMP6,FN3KRP,FN3K,ENGASE,CARD14,DUS1L,ZNF750,FAAP100,TSPAN10,CBX2,MAFG-DT,SLC38A10,PPP1R27,TBC1D16,CANT1,AFMID,C1QTNF1,TMC8,NOTUM,B3GNTL1,TEPSIN,RBFOX3,LRRC45,RPL32P31,CENPX,GCGR,UTS2R,FOXK2,GPS1,GAA,METRNL,MYADML2,NPB,HEXD,LINC00482,TMEM105,NDUFAF8,ENDOV,CCDC57,TMEM235,SLC26A11,ARL16,OXLD1,CCDC137,ENPP7,MCRIP1,PVALEF,LINC01973,THA1P,TEX19,BAIAP2-DT,MIR338,RPL31P7,MIR657,RPL12P37,RPL9P29,NPTX1,MAFG,P4HB,LGALS3BP,C17orf99,LINC01987,MIR1250,RNF213-AS1,MIR4316,HEXD-IT1,MIR3065,MIR3186,NARF-IT1,C1QTNF1-AS1,MIR4730,MIR4525,MIR4739,MIR4740,MIR1268B,LINC02078,CEP295NL,DNAH17-AS1,LINC01993,MRPL12,PYCR1,RFNG,PCYT2,RAC3,PDE6G,SCAT1,LINC01979,SOCS3-DT,LINC01978,LINC01970,MIR6786,MIR6787,UBE2V2P2,LINC01977,NARF-AS2,LINC01971,RN7SL454P,TK1,TIMP2,TBCD,SGSH,SECTM1,RNU1-80P,RNU6-625P,RN7SL236P,RNU6-638P,NARF-AS1,DNAH17,CBX4,SOCS3,DCXR-DT,RENO1,CYTH1,HGS,PGS1,AATK,ALYREF,SLC16A3,SYNGR2,EIF4A3,BAIAP2,TMC6,RAB40B,SEPTIN9,FSCN2,CEP131
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000454
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 TNRC6C-AS1,EIF5AP2,SYNGR2,SOCS3,RN7SL236P,RN7SL454P,RNU6-638P,RPL9P29,LGALS3BP,MIR4739,CBX2,CBX8,LINC01977,MIR1268B,EIF4A3,MIR4730,NPTX1,RPL32P31,RPL31P7,RPL12P37,BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,MIR6787,LINC01970,CD7,UTS2R,NARF-IT1,MIR4525,TMC8,C17orf99,TK1,AFMID,BIRC5,TMEM235,LINC01993,DNAH17-AS1,USP36,CEP295NL,CANT1,C1QTNF1-AS1,ENGASE,LINC02078,ENPP7,CBX4,LINC01979,LINC01978,GAA,CARD14,SLC26A11,ENDOV,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,WDR45B,RAB40B,FN3KRP,FN3K,METRNL,TNRC6C,TMC6,THA1P,PGS1,DNAH17,CYTH1,TIMP2,C1QTNF1,RBFOX3,TBC1D16,CCDC40,SGSH,RNF213,CHMP6,AATK,SLC38A10,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57,CYBC1,FOXK2,B3GNTL1,RPTOR,TBCD,ZNF750
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000926
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LGALS3BP,MIR4739,CBX2,CBX8,LINC01977,MIR1268B,EIF4A3,MIR4730,NPTX1,RPL32P31,RPL31P7,RPL12P37,BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,MIR6787,LINC01970,CD7,UTS2R,NARF-IT1,MIR4525,CEP295NL,CANT1,C1QTNF1-AS1,ENGASE,LINC02078,ENPP7,CBX4,LINC01979,LINC01978,GAA,CARD14,SLC26A11,ENDOV,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,WDR45B,RAB40B,FN3KRP,FN3K,METRNL,TIMP2,C1QTNF1,RBFOX3,TBC1D16,CCDC40,SGSH,RNF213,CHMP6,AATK,SLC38A10,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57,CYBC1,FOXK2,B3GNTL1,RPTOR,TBCD,ZNF750
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 METRNL,B3GNTL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001023
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 METRNL,B3GNTL1,TBCD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001112
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR4525,WDR45B,RAB40B,FN3KRP,FN3K,METRNL,FOXK2,B3GNTL1,TBCD,ZNF750
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001959
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR4525,WDR45B,RAB40B,FN3KRP,FN3K,FOXK2,B3GNTL1,TBCD,ZNF750
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002067
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LGALS3BP,MIR4739,CBX2,CBX8,LINC01977,MIR1268B,EIF4A3,MIR4730,NPTX1,RPL32P31,RPL31P7,RPL12P37,BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,MIR6787,LINC01970,CD7,UTS2R,NARF-IT1,MIR4525,CANT1,C1QTNF1-AS1,ENGASE,LINC02078,ENPP7,CBX4,LINC01979,LINC01978,GAA,CARD14,SLC26A11,ENDOV,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,WDR45B,RAB40B,FN3KRP,FN3K,TIMP2,C1QTNF1,RBFOX3,TBC1D16,CCDC40,SGSH,RNF213,CHMP6,AATK,SLC38A10,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57,CYBC1,FOXK2,B3GNTL1,RPTOR,TBCD,ZNF750
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002184
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR4525,WDR45B,RAB40B,FN3KRP,FN3K,FOXK2,B3GNTL1,TBCD,ZNF750
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002339
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,MIR6787,LINC01970,CD7,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,CSNK1D,SECTM1,SIRT7,MAFG,RFNG,GPS1,CCDC57
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002363
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR6787,LINC01970,CD7,UTS2R,NARF-IT1,FASN,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,CCDC57,CYBC1,FOXK2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004359
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 METRNL,B3GNTL1,TBCD,ZNF750
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004364
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MIR4525,WDR45B,RAB40B,FN3KRP,FN3K,FOXK2,B3GNTL1,TBCD,ZNF750
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004447
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR4730,NPTX1,RPL32P31,RPL31P7,RPL12P37,BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,MIR6787,LINC01970,CD7,UTS2R,NARF-IT1,MIR4525,ENDOV,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,WDR45B,RAB40B,FN3KRP,FN3K,METRNL,RNF213,CHMP6,AATK,SLC38A10,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57,CYBC1,FOXK2,B3GNTL1,RPTOR,TBCD,ZNF750
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004836
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SOCS3,RN7SL236P,PGS1,DNAH17
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005211
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR4525,WDR45B,RAB40B,FN3KRP,FN3K,METRNL,FOXK2,B3GNTL1,TBCD,ZNF750
 
 krumm_13_ASD_discovery_cases-case11220.p1
 
 
 Paternal
 Simplex
 Not segregated
 SGSH
 
 krumm_13_ASD_discovery_cases-case12424.p1
 aCGH (Agilent SurePrint G3 4x180K)
 
 Maternal
 Simplex
 Segregated
 CCDC57
 
 krumm_13_ASD_discovery_cases-case13601.p1
 
 
 Paternal
 Simplex
 Not segregated
 AFMID,BIRC5
 
 krumm_15_ASD_discovery_cases-case11160.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 DNAH17-AS1,DNAH17
 
 krumm_15_ASD_discovery_cases-case11206.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MIR4730,ENDOV,RNF213
 
 krumm_15_ASD_discovery_cases-case11212.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RAB40B,FN3KRP,FN3K,TBCD,ZNF750
 
 krumm_15_ASD_discovery_cases-case11284.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MIR4525,WDR45B,RAB40B,FN3KRP,FOXK2
 
 krumm_15_ASD_discovery_cases-case13076.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case14208.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 WDR45B,FOXK2
 
 krumm_15_ASD_discovery_cases-case14224.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TNRC6C-AS1,TMC8,C17orf99,TNRC6C,TMC6
 
 lal_13_EP_discovery_cases-caseE103
 qPCR
 
 Unknown
 Multiplex
 Not segregated
 RBFOX3
 
 levy_11_ASD_discovery_cases-11186.p1
 
 
 De novo
 Simplex
 Segregated
 BAIAP2
 
 levy_11_ASD_discovery_cases-11284.p1
 
 
 Maternal
 Simplex
 Not segregated
 MIR4525,NARF,WDR45B,RAB40B,FN3KRP,FOXK2
 
 levy_11_ASD_discovery_cases-12561.p1
 
 
 Paternal
 Simplex
 Not segregated
 NPTX1,ENDOV
 
 marshall_08_ASD_discovery_cases-SK0298-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,TMEM105,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-249912
 
 
 De novo
 Unknown
 Possibly segregated
 MIR4316,LINC01973,RNU1-80P,UBE2V2P2,RNU6-625P,TNRC6C-AS1,EIF5AP2,SYNGR2,SOCS3,RN7SL236P,RN7SL454P,RNU6-638P,RPL9P29,LGALS3BP,MIR4739,CBX2,CBX8,LINC01977,MIR1268B,EIF4A3,MIR4730,NPTX1,RPL32P31,RPL31P7,RPL12P37,BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,MIR6787,LINC01970,CD7,UTS2R,NARF-IT1,MIR4525,TMC8,C17orf99,TK1,AFMID,BIRC5,TMEM235,LINC01993,DNAH17-AS1,USP36,CEP295NL,CANT1,C1QTNF1-AS1,ENGASE,LINC02078,ENPP7,CBX4,LINC01979,LINC01978,GAA,CARD14,SLC26A11,ENDOV,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,WDR45B,RAB40B,FN3KRP,FN3K,METRNL,SEPT9,LINC01987,TNRC6C,TMC6,THA1P,PGS1,DNAH17,CYTH1,TIMP2,C1QTNF1,RBFOX3,TBC1D16,CCDC40,SGSH,RNF213,CHMP6,AATK,SLC38A10,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57,CYBC1,FOXK2,B3GNTL1,RPTOR,TBCD,ZNF750
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-260556
 
 
 Unknown
 Unknown
 Unknown
 CEP295NL,TIMP2
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC10113
 FISH
 
 M
 Unknown
 Unknown
 SOCS3,RN7SL236P,RN7SL454P,RNU6-638P,RPL9P29,LGALS3BP,MIR4739,CBX2,CBX8,LINC01977,MIR1268B,EIF4A3,MIR4730,NPTX1,RPL32P31,RPL31P7,LINC01993,DNAH17-AS1,USP36,CEP295NL,CANT1,C1QTNF1-AS1,ENGASE,LINC02078,ENPP7,CBX4,LINC01979,LINC01978,GAA,CARD14,SLC26A11,ENDOV,PGS1,DNAH17,CYTH1,TIMP2,C1QTNF1,RBFOX3,TBC1D16,CCDC40,SGSH,RNF213,RPTOR
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC24735
 FISH
 
 M (balanced carrier)
 Unknown
 Unknown
 LGALS3BP,MIR4739,CBX2,CBX8,LINC01977,MIR1268B,EIF4A3,MIR4730,NPTX1,RPL32P31,RPL31P7,RPL12P37,BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,MIR6787,LINC01970,CD7,UTS2R,NARF-IT1,MIR4525,CANT1,C1QTNF1-AS1,ENGASE,LINC02078,ENPP7,CBX4,LINC01979,LINC01978,GAA,CARD14,SLC26A11,ENDOV,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,WDR45B,RAB40B,FN3KRP,FN3K,METRNL,C1QTNF1,RBFOX3,TBC1D16,CCDC40,SGSH,RNF213,CHMP6,AATK,SLC38A10,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57,CYBC1,FOXK2,B3GNTL1,RPTOR,TBCD,ZNF750
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC54808
 FISH
 
 Unknown
 Unknown
 Unknown
 EIF4A3,GAA,CARD14,SLC26A11,CCDC40,SGSH,RNF213
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC8654
 FISH
 
 M (balanced carrier)
 Unknown
 Unknown
 LINC01973,RNU1-80P,UBE2V2P2,RNU6-625P,TNRC6C-AS1,EIF5AP2,SYNGR2,SOCS3,RN7SL236P,RN7SL454P,RNU6-638P,RPL9P29,LGALS3BP,MIR4739,CBX2,CBX8,LINC01977,MIR1268B,EIF4A3,MIR4730,NPTX1,RPL32P31,RPL31P7,RPL12P37,BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,MIR6787,LINC01970,CD7,UTS2R,NARF-IT1,MIR4525,TMC8,C17orf99,TK1,AFMID,BIRC5,TMEM235,LINC01993,DNAH17-AS1,USP36,CEP295NL,CANT1,C1QTNF1-AS1,ENGASE,LINC02078,ENPP7,CBX4,LINC01979,LINC01978,GAA,CARD14,SLC26A11,ENDOV,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,WDR45B,RAB40B,FN3KRP,FN3K,TNRC6C,TMC6,THA1P,PGS1,DNAH17,CYTH1,TIMP2,C1QTNF1,RBFOX3,TBC1D16,CCDC40,SGSH,RNF213,CHMP6,AATK,SLC38A10,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57,CYBC1,FOXK2,RPTOR,TBCD,ZNF750
 
 pinto_10_ASD_discovery_cases-case5444_3
 qPCR-Denovo,Agilent1M
 
 De novo
 Simplex
 NA
 MIR6787,LINC01970,SLC16A3,CSNK1D
 
 pinto_10_ASD_discovery_cases-case5444_3
 qPCR-Denovo,Affy500K,Agilent1M,FISH
 
 De novo
 Simplex
 NA
 MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57
 
 pinto_10_ASD_discovery_cases-case5448_5
 Agilent1M
 
 maternal
 NA
 NA
 RBFOX3
 
 pinto_10_ASD_discovery_cases-case6164_3
 qPCR
 
 maternal
 Simplex
 NA
 MIR6787,SLC16A3,CSNK1D,CCDC57
 
 poultney_13_ASD_discovery_cases-case01HI1953A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ACTG1
 
 poultney_13_ASD_discovery_cases-case05HI4274A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 OGFOD3
 
 prasad_12_ASD_discovery_cases-case103022L
 
 
 Unknown
 Unknown
 Unknown
 SLC16A3,CSNK1D
 
 prasad_12_ASD_discovery_cases-case103022L
 
 
 Unknown
 Unknown
 Unknown
 C17orf70,ACTG1,TSPAN10,DCXR,C17orf90,STRA13,ARL16,MIR3186,NPLOC4,PYCR1,SLC25A10,GPS1,DUS1L,ANAPC11,LOC92659,FASN,ARHGDIA,MAFG,BAHCC1,DYSFIP1,MRPL12,SIRT7,RAC3,CCDC57,P4HB,PCYT2,HGS,RFNG,MYADML2,FSCN2,THOC4,ASPSCR1,CCDC137,NOTUM,NPB,PDE6G,LRRC45
 
 prasad_12_ASD_discovery_cases-case103818L
 qPCR
 
 Maternal
 Unknown
 Unknown
 TIMP2
 
 prasad_12_ASD_discovery_cases-case144008
 
 
 Unknown
 Unknown
 Unknown
 SEPT9
 
 prasad_12_ASD_discovery_cases-case52335
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case76066
 
 
 Unknown
 Unknown
 Unknown
 NARF
 
 prasad_12_ASD_discovery_cases-caseL656
 
 
 Unknown
 Unknown
 Unknown
 LOC100294362,ENDOV,RNF213
 
 prasad_12_ASD_discovery_cases-caseL656
 
 
 Unknown
 Unknown
 Unknown
 CYTH1
 
 sahajpal_23_ASD/DD/ID_discovery_cases-case2
 qPCR
 
 Paternal
 
 
 CD7,CSNK1D,NARF,OGFOD3,CYBC1,UTS2R,FOXK2,HEXD,TEX19,HEXD-IT1,NARF-IT1,LINC01970,MIR6787,NARF-AS2,SECTM1,NARF-AS1,SLC16A3
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
 qPCR (CNV not detected)
 
 Bi-parental
 Unknown
 Unknown
 SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SIRT7,MAFG,RFNG,GPS1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
 qPCR (CNV not detected)
 
 Bi-parental
 Unknown
 Unknown
 MIR1250,PVALEF,CEP131,AATK
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 MIR657,MIR3065,MIR338,MIR1250,BAIAP2,PVALEF,CEP131,AATK
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 SLC38A10
 
 sanders_11_ASD_discovery_cases-11067.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11160.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 DNAH17
 
 sanders_11_ASD_discovery_cases-11212.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 RAB40B,FN3KRP,FN3K,TBCD,ZNF750
 
 sanders_11_ASD_discovery_cases-11220.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SGSH
 
 sanders_11_ASD_discovery_cases-11239.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SL236P
 
 sanders_11_ASD_discovery_cases-11246.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11274.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11284.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR4525,WDR45B,RAB40B,FN3KRP,FOXK2
 
 sanders_11_ASD_discovery_cases-11298.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11343.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11359.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11429.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11654.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11812.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11883.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11910.p1
 
 
 Both parents
 Simplex (trio)
 NA
 SLC25A10
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RBFOX3
 
 sanders_11_ASD_discovery_cases-11995.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12008.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12038.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 C1QTNF1
 
 sanders_11_ASD_discovery_cases-12235.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12240.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12334.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CHMP6
 
 sanders_11_ASD_discovery_cases-12376.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12385.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12440.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12462.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12472.p1
 
 
 Both parents
 Simplex (trio)
 NA
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12558.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FASN
 
 sanders_11_ASD_discovery_cases-12561.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NPTX1,ENDOV
 
 sanders_11_ASD_discovery_cases-12799.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 sanders_11_ASD_discovery_cases-12827.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12916.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBFOX3
 
 servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC14
 
 
 Paternal
 
 
 DNAH17-AS1,RN7SL454P,DNAH17,PGS1
 
 vazna_08_ASD_discovery_cases-case1
 long-range PCR, microsatellite analysis
 
 De novo, parental chromosome
 Unknown
 Possibly segregated
 LINC01970,CD7,UTS2R,NARF-IT1,MIR4525,SLC16A3,CSNK1D,SECTM1,TEX19,OGFOD3,NARF,NARF-AS1,WDR45B,RAB40B,FN3KRP,FN3K,METRNL,CYBC1,FOXK2,B3GNTL1,TBCD,ZNF750
 
 yin_16_ASD_discovery_cases-case523
 
 
 Unknown
 Unknown
 Unknown
 EIF4A3
 
 yin_16_ASD_discovery_cases-case524
 
 
 Unknown
 Unknown
 Unknown
 SLC26A11,RNF213
 
 yin_16_ASD_discovery_cases-case525
 
 
 Unknown
 Unknown
 Unknown
 BAIAP2-DT,MIR657,MIR3065,MIR338,MIR1250,NDUFAF8,LINC00482,MIR4740,MIR3186,LINC01971,FSCN2,BAIAP2,PVALEF,CEP131,TEPSIN,TMEM105,ACTG1,CHMP6,AATK,SLC38A10,BAHCC1
 
 yin_16_ASD_discovery_cases-case526
 
 
 Unknown
 Unknown
 Unknown
 OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DUS1L,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57
 
 yuan_23_ASD_discovery_cases-qma01334s000
 
 
 De novo
 
 
 SLC26A11,SGSH
 
 yuan_23_ASD_discovery_cases-qma01806d000
 
 
 De novo
 
 
 ACTG1,SLC25A10,NPLOC4,RPTOR,BAHCC1,CHMP6,FAAP100,TSPAN10,SLC38A10,PPP1R27,TEPSIN,RPL32P31,GCGR,LINC00482,TMEM105,NDUFAF8,ARL16,OXLD1,CCDC137,MCRIP1,PVALEF,BAIAP2-DT,MIR338,RPL31P7,MIR657,RPL12P37,NPTX1,P4HB,MIR1250,MIR3065,MIR3186,MIR4740,MRPL12,PDE6G,MIR6786,LINC01971,RENO1,HGS,AATK,BAIAP2,FSCN2,CEP131
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0298-003
 RT-qPCR or WGS
 
 De novo
 
 
 MIR6787,LINC01970,SLC16A3,CSNK1D
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0298-003
 RT-qPCR or WGS
 
 De novo
 
 
 MIR4740,MIR3186,LINC01971,FSCN2,OXLD1,CCDC137,ARL16,MIR6786,SLC25A10,MCRIP1,PPP1R27,ALYREF,ANAPC11,NPB,MAFG-DT,MYADML2,CENPX,LRRC45,RAC3,DCXR,DCXR-DT,DUS1L,ACTG1,FAAP100,NPLOC4,TSPAN10,HGS,MRPL12,GCGR,P4HB,ARHGDIA,PCYT2,PYCR1,NOTUM,ASPSCR1,FASN,SLC16A3,BAHCC1,PDE6G,SIRT7,MAFG,RFNG,GPS1,CCDC57
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC10822
  No validation step reported
 
  Paternal
 
 
 
 
engchuan_15_ASD_discovery_controls-control110030109052_
 
 
  Unknown
 
 
  RBFOX3
 
engchuan_15_ASD_discovery_controls-control110036019271_
 
 
  Unknown
 
 
  RBFOX3
 
engchuan_15_ASD_discovery_controls-controlB158364_0057061610
 
 
  Unknown
 
 
  RAB40B,FN3KRP,FN3K,TBCD,ZNF750
 
engchuan_15_ASD_discovery_controls-controlB542076_0067942602
 
 
  Unknown
 
 
  RBFOX3
 
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
 
 
  Unknown
 
 
  FASN,CCDC57
 
engchuan_15_ASD_discovery_controls-controlB957019_1007844002
 
 
  Unknown
 
 
  METRNL
 
krumm_13_ASD_discovery_controls-control11220.s1
 
 
  Paternal
  Simplex
 
  SGSH
 
krumm_13_ASD_discovery_controls-control12691.s1
 
 
  Maternal
  Simplex
 
  SLC26A11,RNF213
 
krumm_13_ASD_discovery_controls-control12937.s1
 
 
  Paternal
  Simplex
 
  ARHGDIA
 
krumm_13_ASD_discovery_controls-control13601.s1
 
 
  Paternal
  Simplex
 
  AFMID
 
krumm_15_ASD_discovery_controls-control11206.s1
  Illumina 1M
 
  Maternal
 
 
  MIR4730,ENDOV,RNF213
 
krumm_15_ASD_discovery_controls-control11284.s1
  Illumina 1M
 
  Maternal
 
 
  MIR4525,NARF,WDR45B,RAB40B,FN3KRP,FOXK2
 
krumm_15_ASD_discovery_controls-control13839.s1
  Omni2.5-4v1
 
  Maternal
 
 
  CCDC57
 
krumm_15_ASD_discovery_controls-control13982.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SLC38A10
 
krumm_15_ASD_discovery_controls-control14224.s1
  Omni2.5-4v1
 
  Paternal
 
 
  TNRC6C-AS1,TMC8,C17orf99,TNRC6C,TMC6
 
levy_11_ASD_discovery_controls-11284.s1
 
 
  Maternal
  Simplex
  NA
  MIR4525,NARF,WDR45B,RAB40B,FN3KRP,FOXK2
 
levy_11_ASD_discovery_controls-12561.s1
 
 
  Paternal
  Simplex
  NA
  NPTX1,ENDOV
 
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control47
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: EIF4A3
 
nord_11_ASD_discovery_controls-04C27513
 
 
 
 
 
  CBX2,CBX8,CBX4
 
nord_11_ASD_discovery_controls-04C28230
 
 
 
 
 
  EIF4A3,GAA
 
poultney_13_ASD_discovery_controls-control05C40144A
 
 
  Unknown
 
 
  P4HB,ARHGDIA
 
poultney_13_ASD_discovery_controls-control05C45035
 
 
  Unknown
 
 
  ALYREF,P4HB,ARHGDIA
 
sanders_11_ASD_discovery_controls-11004.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11028.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11220.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC26A11,SGSH
 
sanders_11_ASD_discovery_controls-11246.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11274.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11284.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR4525,WDR45B,RAB40B,FN3KRP,FOXK2
 
sanders_11_ASD_discovery_controls-11298.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11414.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DNAH17-AS1,DNAH17
 
sanders_11_ASD_discovery_controls-11450.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11459.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11557.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11654.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11812.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11855.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11883.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11897.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-12240.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-12360.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-12376.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-12440.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-12444.s1
 
 
  Paternal
  Simplex (quad)
  NA
  METRNL,B3GNTL1
 
sanders_11_ASD_discovery_controls-12444.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-12561.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NPTX1
 
sanders_11_ASD_discovery_controls-12603.s1
 
 
  Maternal
  Simplex (quad)
  NA
  METRNL
 
sanders_11_ASD_discovery_controls-12648.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-12690.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-12691.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC26A11,RNF213
 
sanders_11_ASD_discovery_controls-12799.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX3
 
sanders_11_ASD_discovery_controls-12916.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBFOX3
 
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
 
 
  Unknown
  N/A (both twins typically developing)
 
  CEP131
 

No Animal Model Data Available
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