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8q24.3CNV Type: Deletion-Duplication


Largest CNV size: 249166 bp

Statistics Box:
Number of Reports: 39


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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
De novo rates and selection of large copy number variation.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
NA
Duplication
NA
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
NA
Duplication
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
 Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
 584
 Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
 N/A
 N/A
 964414
 0
 1
 1
 alvarez-mora_22_DD/ID_discovery_cases
 Individual with a paternally-inherited 8q24.3 deletion as part of a compound heterozygous mutation affecting the TRAPPC9 gene (from an initial cohort of individuals from 87 families with one or more individuals affected by neurodevelopmental disorders referred to the Biochemistry and Molecular Genetics Department of Hospital Clinic of Barcelona).
 1
 Case presented with developmental delay and intellectual disability
 NA
 Male
 90167
 1
 0
 1
 alvarez_mora_21_ID_discovery_cases
 Two affected siblings with a compound heterozygous TRAPPC9 mutation born to non-consanguineous Spanish parents referred to the Clinical Genetics consultation of the Hospital Clinic of Barcelona (Barcelona, Spain)
 2
 Both siblings presented with severe intellectual disability, absent speech, and behavioral abnormalities
 Not reported
 Male
 90166
 2
 0
 2
 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
 43000
 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
 721000
 1
 1
 2
 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
 13529
 0
 1
 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
 60
 1
 0
 1
 chaves_24_ASD/DD/ID_discovery_cases
  NA NA
 CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
 1012
 83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
 Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
 60.77% Male
 1357718
 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
 676175
 3
 6
 9
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 1108767
 0
 2
 2
 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
 1841000
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 806098
 0
 3
 3
 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
 174332
 0
 1
 1
 hnoonual_17_ASD_discovery_cases
 Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
 114
 68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
 Range, 1-18 years (at time of recruitment)
 79.82% Male
 1490000
 1
 0
 1
 hu_15_ASD/ADHD/DD/ID/EP_discovery_cases
 Three affected siblings (the female proband, an older sister and an older brother) from a family with a history of neurodevelopmental disorders
 3
 Cohort diagnoses: ASD (n=3), ADHD (n=2), ID (n=2), epilepsy/seizures (n=2), and DD (n=1)
 Range, 7-12.5 yrs.
 33.33% Male
 540000
 2
 0
 2
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 151431
 1
 0
 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
 5722313
 7
 7
 14
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 8997
 0
 1
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 155673
 1
 2
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 227551
 2
 5
 7
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 27442
 1
 0
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 500000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 249166
 0
 2
 2
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 3421000
 0
 1
 1
 mulle_13_SCZ_discovery_cases_1
 SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
 554
 Diagnosis of schizophrenia based on meeting DSM-IV citeria
 N/A
 N/A
 789448
 1
 0
 1
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 673100
 0
 1
 1
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 4129000
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 179756
 0
 2
 2
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 14439
 1
 0
 1
 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
 713991
 4
 3
 7
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 148177
 0
 1
 1
 reis_17_ASD/ID_discovery_cases
 Two siblings (one male, one female) with syndromic ASD who participated in an ongoing exome research study at the Autism Spectrum Disorder Program Clinic of the Psychiatric Institute of the University of Sao Paulo School of Medicine
 2
 The male sibling met criteria for a diagnosis of ASD according to DSM-5 criteria (CARS score 33.5), while the female sibling was diagnosed with intellectual disability and syndromic features (CARS score 24.0)
 Range, 29-33 yrs.
 50% Male
 77198
 0
 2
 2
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 330538
 0
 2
 2
 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
 356204
 3
 0
 3
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 202125
 16
 10
 26
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected 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
 Diagnoses based on DSM-5 criteria 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 an
 N/A
 N/A
 370434
 0
 1
 1
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 4300000
 2
 0
 2
 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
 115981
 2
 4
 6
 zhou_19_ASD_discovery_cases
 ASD probands from families recruited from training centers in Beijing and Tsingdao, China
 539
 Cases were diagnosed for ASD by ADI-R and ADOS
 4.92 1.20 years
 87.38% Male
 2000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 41212
 0
 1
 1
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 2107
 1
 0
 1
 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
 183851
 1
 4
 5
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 1108767
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 705851
 0
 2
 2
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 0
 0
 0
 0
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 155673
 2
 2
 4
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 155673
 0
 4
 4
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 247624
 0
 1
 1
 mulle_13_SCZ_discovery_controls_1
 Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
 1014
 Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 29026
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 713991
 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.
 
 237162
 13
 3
 16
 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
 392808
 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
 115981
 0
 0
 0
 zhou_19_ASD_discovery_controls
 Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
 512
 Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
 29.77 9.12 years
 76.17% Male
 N/A
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
  Saudi Arabia
 Array SNP
  Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
 HMM
 Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
 None
 alvarez-mora_22_DD/ID_discovery_cases
  Spain
 WES, WGS
  NA
 
 
 
 alvarez_mora_21_ID_discovery_cases
  Spain
 WGS
  Not reported
 
 Illumina Manta Structural Variant Caller v.1.1.0
 aCGH
 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
 
 PCR, array SNP
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 chaves_24_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 hnoonual_17_ASD_discovery_cases
  Thai
 Solid phase hybridization
  Illumina Infinium CytoSNP-850K v1.1 BeadChip
 
 BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
 None
 hu_15_ASD/ADHD/DD/ID/EP_discovery_cases
  White
 aCGH
  NimbleGen 135K, Agilent SurePrint G3 (4x180K ISCA)
 
 
 FISH
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_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)
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 mulle_13_SCZ_discovery_cases_1
  Ashkenazi Jewish
 Array SNP
  Affymetrix 6.0
 GLAD, GADA, BEAST
 Affymetrix power tools software v1.12.0
 None
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 None
 reis_17_ASD/ID_discovery_cases
  Brazil
 aCGH
  Agilent 180K
 ADM-2
 Agilent Feature Extraction 10.7.3.1
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 zhou_19_ASD_discovery_cases
  Han Chinese
 Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
 XHMM v.1.0
 qPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  mulle_13_SCZ_discovery_controls_1
  Ashkenazi Jewish
  Array SNP
  Affymetrix 6.0
  GLAD, GADA, BEAST
  Affymetrix power tools software v1.12.0
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  qPCR
  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
  zhou_19_ASD_discovery_controls
  Han Chinese
  Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
  XHMM v.1.0
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2146
 N/A
 N/A
 Developmental delay
 Developmental delay, failure to thrive and hypotonia. Non-consanguineous parents.
 Developmental delay
 143787131
 144608330
  821200
 GRCh38
 Duplication
 No
  alvarez-mora_22_DD/ID_discovery_cases-case31
 NA
 M
 Developmental delay and intellectual disability
 Absent speech, behavioral disorder; part of a compound heterozygous mutation affecting the TRAPPC9 gene (along with a maternally-inherited missense variant).
 Severe intellectual disability
 140372873
 140463039
  90167
 GRCh38
 Deletion
 No
  alvarez_mora_21_ID_discovery_cases-caseFam1-II.1
 NA
 M
 Intellectual disability
 Language and communication evaluation: absent speech. Behavioral/psychiatric evaluation: behavioral abnormalities (such as "happy disposition"). Brain imaging: dysgenesis of the corpus callosum and cisterna magna. Additional medical history: mild myopia. Dysmorphic features: mild facial dysmorphism. Growth parameters: slight obesity. Family history: born to non-consanguineous Spanish parents and has a similarly affected brother; both affected siblings have a compound heterozygous TRAPPC9 mutation consisting of a paternally-inherited deletion and a maternally-inherited missense variant (NM_031466.7:c.1037G>A;p.Gly346Glu).
 Severe intellectual disability
 140303692
 140393857
  90166
 GRCh38
 Deletion
 Yes
  alvarez_mora_21_ID_discovery_cases-caseFam1-II.2
 NA
 M
 Intellectual disability
 Language and communication evaluation: absent speech. Behavioral/psychiatric evaluation: behavioral abnormalities (such as "happy disposition"). Brain imaging: dysgenesis of the corpus callosum and cisterna magna. Additional medical history: mild myopia. Dysmorphic features: mild facial dysmorphism. Growth parameters: slight obesity. Family history: born to non-consanguineous Spanish parents and has a similarly affected brother; both affected siblings have a compound heterozygous TRAPPC9 mutation consisting of a paternally-inherited deletion and a maternally-inherited missense variant (NM_031466.7:c.1037G>A;p.Gly346Glu).
 Severe intellectual disability
 140303692
 140393857
  90166
 GRCh38
 Deletion
 Yes
  asadollahi_14_NDD_discovery_cases-case64035
 N/A
 M
 NDD
 Case with unspecified neurodevelopmental disorder
 
 140571560
 140614380
  42821
 GRCh38
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case19
 7 yrs.
 M
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Moderate DD/ID
 141132229
 141491107
  358879
 GRCh38
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case64
 2 yrs. 3 mos.
 F
 Developmental delay/intellectual disability and epilepsy
 Autism: no. Epilepsy: yes. Dysmorphic features: yes.
 Borderline-mild DD/ID
 141211680
 141932902
  721223
 GRCh38
 Duplication
 Yes
  brandler_18_ASD_discovery_cases-caseSSC02408
 N/A
 M
 ASD
 Case from SSC cohort
 
 141007
 147838
  6832
 GRCh38
 Duplication
 Yes
  celestino-soper_11_ASD_discovery_cases-11399
 NA
 M
 ASD
 NA
 NA
 144505871
 144505931
  61
 GRCh38
 Deletion
 No
  chaves_24_ASD/DD/ID_discovery_cases-case995
  NA NA
 
 F
 
 Failure to thrive, facial dysmorphism, hydrocephalus, thin corpus callosum, ventricular ectasia. Karyotype: 46,XX,add(8)(?-pter).
 
 143712668
 145070385
  1357718
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1258_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 143722756
 143831703
  108948
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1258_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 143910788
 144120626
  209839
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1961_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 139311494
 139440010
  128517
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3017_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 143933019
 143989660
  56642
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3085_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 145010178
 145068028
  57851
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4399_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 139311494
 139440010
  128517
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5542_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 144742351
 144922108
  179758
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8630_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 145008454
 145062680
  54227
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8737_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 142518691
 143120437
  601747
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si304
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 48; Non-verbal IQ, 94.
 141993366
 142901376
  908011
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si31
 18
 M
 Autism
 ADOS score: 9. Vineland composite score: 56.
 Profound mental retardation/intellectual disability. Full-scale IQ, 18; Verbal IQ, 19; Non-verbal IQ, 19.
 141691243
 142800874
  1109632
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-11141.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
 142741580
 144473809
  1732230
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-36904100666
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 142464494
 142834142
  369649
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-48804101682
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 143357246
 144090078
  732833
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-49906107136
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 142027194
 142834142
  806949
 GRCh38
 Duplication
 No
  han_22_ASD/DD/ID_discovery_cases-caseY21
  NA NA
 4 yrs. 10 mos.
 M
 ASD, developmental delay, and intellectual disability
 Motor developmental delay, absent speech
 Intellectual disability
 144645738
 144820069
  174332
 GRCh38
 Duplication
 No
  hnoonual_17_ASD_discovery_cases-caseTM54-3
 N/A
 M
 ASD
 No additional clinical features
 
 141029793
 142453828
  1424036
 GRCh38
 Deletion
 No
  hu_15_ASD/ADHD/DD/ID/EP_discovery_cases-affectedbrother
 9.5 yrs.
 M
 ASD, intellectual disability, and ADHD
 Birth/neonatal history: product of a nine month gestation born to a gravida 2 para 1 mother by C-section after fetal distress during a labor of 14 hrs; birth weight of 3062 g; did well in delivery roon and in perinatal period. Developmental milestones: walked at age of 2 years; developmental estimates about 12-15 month range. Language and communication evaluation: non-verbal; would yell out or break into uncontrollable inappropriate behavior. Motor and musculoskeletal evalaution: mild generalized hypotonia, spasticity in lower extremities, toe-walking. Behavioral/psychiatric evaluation: presented with repetitive and stereotypic behaviors, lack of expressive communication, and difficulty wtih social interaction; hyperkinetic, hyperactive, and impulsive; self-injurious behaviors, such as head banging and self-biting, that required use of a helmet. Additional medical history: diagnosed with gastroesophageal reflux at age of 7 years. Growth parameters: weight of 12.7 kg (5th %ile), height of 91.5 cm (5th %ile), and head circumference of 51 cm (50th %ile) at age of 3.5 years. Family history: younger sister with ASD, DD, ID, ADHD and seizures; older sister with ASD, DD, and seizures; mother with learning disability, depression, panic disorder, and obsessive tendencies; history of learning disability, intellectual disability, and ADHD on maternal side of family; father with learning disability, depression, anxiety and anti-social behavior.
 Intellectual disability
 142528697
 143068824
  540128
 GRCh38
 Deletion
 Yes
  hu_15_ASD/ADHD/DD/ID/EP_discovery_cases-proband
 7 yrs.
 F
 ASD, intellectual disability, ADHD, and seizures
 Diagnosed with PDD-NOS. Birth/neonatal history: born by repeat C-section to 30-year-old gravida 3 para 2 mother at 36 weeks of gestation after uncomplicated pregnancy; birth weight of 2296 g; no medical concerns raised at birth. Developmental milestones: initially evaluated at age of 14 months for developmental delay and hypotonia; sat without support at 14 months, walked independetly at 17 months, language delay (mostly non-verbal at 2 years of age). Language and communication evaluation: had approximately 50 words at age of 7 years, unable to form two-word combinations. Motor and musculoskeletal evaluation: hypotonia, motor delays. Behavioral/psychiatric evaluation: Child Behavior Checklist score >98th %ile on externalizing problems and 97th %ile on internalizing problems scale (in clinically significant range on the withdrawn/depressed, thought problems, attention problems, and aggressive behavioral subscales); rated as having significant problems on the Combined ADHD Inattention/Hyperactivity Scale and Oppositional/Conduct Screen on Vanderbilt Teacher Assessment Scale; sleep disturbances (sleep disorder and night screaming); self-injurious behaviors such as head banging (wears helmet). Epilepsy/seizures: diagnosed with generalized tonic-clonic seizures; seizures under control by administration of 25 mg Lamictal twice a day. EEG: normal. Brain imaging: loss of periventricular white matter bilaterally on brain MRI. Additional medical history: esophageal reflux. Family history: older brother with ASD, DD, ID, and ADHD; older sister with ASD, DD, and seizures; mother with learning disability, depression, panic disorder, and obsessive tendencies; history of learning disability, intellectual disability, and ADHD on maternal side of family; father with learning disability, depression, anxiety and anti-social behavior.
 Moderate ID. Full-scale IQ of 40, nonverbal IQ of 42, and verbal IQ of 43 on Stanford-Binet Intelligence Scales; score <45 for visual motor skills and 55 for adaptive behavior composite on Development Tests for Visual Motor Integration.
 142528697
 143068824
  540128
 GRCh38
 Deletion
 Yes
  itsara_10_ASD_discovery_cases-HI2158
 NA
 NA
 Autism
 NA
 NA
 144354636
 144504344
  149709
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000162
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 144992787
 145054634
  61848
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000265
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 144002671
 144796947
  794277
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 142201425
 142550407
  348983
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001862
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 144913443
 145076819
  163377
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001991
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 140287451
 140393615
  106165
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002087
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 144287919
 144723120
  435202
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002312
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 144392063
 144458958
  66896
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002340
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 141131265
 142117372
  986108
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002380
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 144375621
 144605333
  229713
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002415
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 143684819
 144287978
  603160
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004008
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 139447227
 145054775
  5607549
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004151
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 144002671
 145054634
  1051964
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004377
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 140060745
 140721324
  660580
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004438
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 144002471
 145054775
  1052305
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case1877
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 143147535
 143156531
  8997
 Unknown
 Duplication
 No
  krumm_13_ASD_discovery_cases-case11252.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11252. SRS score of 86.
 Full-scale IQ (FSIQ) score of 78.
 143213267
 143368645
  155379
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12534.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 12534. SRS score of 90.
 Full-scale IQ (FSIQ) score of 81.
 144721643
 144808395
  86753
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13815.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13815. SRS score of 82.
 Full-scale IQ (FSIQ) score of 51.
 144803640
 144804238
  599
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11252.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 143429344
 143440363
  11020
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11252.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 143213267
 143368645
  155379
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11504.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 144802914
 144808395
  5482
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12015.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 143367866
 143430406
  62541
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12534.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 144580845
 144808395
  227551
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13540.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 143309440
 143331339
  21900
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13852.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 144753682
 144808395
  54714
 GRCh38
 Duplication
 Yes
  kushima_18_SCZ_discovery_cases-caseSCZ2289
 43 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 140417391
 140444832
  27442
 GRCh38
 Deletion
 N/A
  leppa_16_ASD_discovery_cases-AU3307301
 N/A
 F
 ASD
 
 
 139476757
 140002903
  526147
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11252.p1
 NA
 M
 ASD
 NA
 NA
 143192370
 143439472
  247103
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12534.p1
 NA
 F
 ASD
 NA
 NA
 144576823
 144825991
  249169
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown208
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 141758833
 145036220
  3277388
 GRCh38
 Duplication
 No
  mulle_13_SCZ_discovery_cases_1-caseAJ_8288_2
 N/A
 N/A
 Schizophrenia
 N/A
 N/A
 144284925
 145072757
  787833
 GRCh38
 Deletion
 No
  napoli_17_ASD_discovery_cases-case30
 N/A
 F
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XX
 
 143292955
 143974051
  681097
 GRCh38
 Duplication
 Yes
  oikonomakis_16_ASD_discovery_cases-case472
 6 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: low set ears, hypertelorism, antimogolodi palpebral fissures, broad base to nose, short philtrum, high arched palate
 ID
 140967828
 144881310
  3913483
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1961_302
 NA
 M
 ASD
 NA
 NA
 139311494
 139440010
  128517
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5542_3
 NA
 M
 ASD
 NA
 NA
 144742351
 144922108
  179758
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case01HI2184A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU083504; NDAR ID NDAR_INVBU061BF1)
 
 144789802
 144804240
  14439
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case110612L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 145990558
 146003494
  12937
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case122686L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 145929744
 146119517
  189774
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case141195L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 140116627
 140830617
  713991
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case146450L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 145679307
 145687590
  8284
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47389
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 145990558
 146003494
  12937
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case86605L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 140194913
 140229985
  35073
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseL051
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 142485974
 142501460
  15487
 Unknown
 Duplication
 No
  qiao_12_ASD_discovery_cases-case10-122A
 NA
 NA
 ASD and/or ID
 NA
 NA
 140907707
 141055884
  148177
 Unknown
 Duplication
 No
  reis_17_ASD/ID_discovery_cases-case1
 33 yrs.
 M
 ASD and intellectual disability
 Case met criteria for a diagnosis of ASD according to DSM-5, CARS score of 33.5. Birth/neonatal history: uneventful pregnancy and vaginal delivery without complications; birth weight or length not available. Developmental milestones: case had spoken individual words only after 2 years of age and had stopped producing any words at all by 4 years of age; first steps at 2 years of age. Language and communication evaluation: able to understand simple commands, difficulty obeying some commands; absent speech (non-verbal, guttural sounds and screams are present), absence of functional communication. Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, kyphoscoliosis, symmetric but slightly diminished deep reflexes, discrete hypotonia, gait was symmetric with large steps. Behavioral/psychiatric evaluation: irritability (mainly in the morning), occasional autoaggressive or outwardly directed aggressive behavior; stereoypic movements, did not sustain eye contact or initiate interaction, agitation, unmotivated laughter, inappropriate social contact. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, crowded teeth, low-set ears, malformed ears, widely spaced nipples. Growth parameters: height 190 cm, weight 95.8 cm, OFC 60 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
 Diagnosed with intellectual disability in 1992
 144126737
 144203935
  77199
 GRCh38
 Duplication
 No
  reis_17_ASD/ID_discovery_cases-case2
 29 yrs.
 F
 Intellectual disability
 Birth/neonatal history: reported abdominal pain and vaginal bleeding during pregnancy; delivery by C-section; birth weight 4140 g, length 51 cm. Developmental milestones: first steps at 18 months of age, had not begun to produce speech until after 2 years of age. Language and communication evaluation: able to understand simple and some complex commands, uses imitation, verbal with simple sentences with substitutions (mostly "r" for "l"). Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, hypoplastic nails, kyphosis, exhibited some difficulty standing on one foot, gait was symmetric with large steps. Behavioral/psychiatric evaluation: CARS score of 24.0; presented eye contact and initiated interaction in an inappropriate form, quite puerlie with no functionality; psychomotor agitation (mainly in the mornings); occasionally aggressive, but affectionate and gentle most of the time; liked playing with other children; sometimes exhibited periods of inappropriate, hypersocial behavior and periods during which she could not stop talking; sleep difficulties. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, thin lips, crowded teeth, low-set ears, malformed ears. Growth parameters: height of 183 cm, weight of 91.5 kg, OFC 59 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
 Diagnosed with intellectual disability in 1992
 144126737
 144203935
  77199
 GRCh38
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case16006
 NA
 NA
 ASD
 NA
 NA
 140858987
 141140175
  281188
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case29119
 NA
 NA
 ASD
 NA
 NA
 144558881
 144889419
  330538
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
 N/A
 N/A
 CBLH-PMG
 Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
 
 143551386
 143582424
  31039
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-323
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 143917935
 144007080
  89146
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-398
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 139897240
 140255588
  358349
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11017.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
 140944111
 140965358
  21248
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11037.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
 144999726
 145012895
  13170
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11063.p1
 9.3
 M
 Aspergers
 NA
 Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
 144999726
 145010178
  10453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11073.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 140992901
 140994094
  1194
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11223.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
 143253125
 143262217
  9093
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11258.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
 141007
 147550
  6544
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11290.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
 140193610
 140214753
  21144
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 144052892
 144063745
  10854
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11472.p1
 13.7
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
 144431464
 144450108
  18645
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11504.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
 144798538
 144806317
  7780
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 144507031
 144516801
  9771
 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
 140110355
 140110571
  217
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 140110355
 140110571
  217
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 140988360
 140994094
  5735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11999.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 144920317
 144940831
  20515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12006.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 104; verbal IQ, 50
 143362039
 143383115
  21077
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12015.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
 143358686
 143393254
  34569
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12048.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
 144435160
 144443481
  8322
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 144044224
 144056712
  12489
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12534.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
 144583598
 144785726
  202129
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12534.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
 144798538
 144828888
  30351
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12629.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
 143359823
 143383115
  23293
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12710.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
 143367021
 143383115
  16095
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12939.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
 144045204
 144063745
  18542
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12962.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
 142725478
 142727533
  2056
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 140988360
 140994094
  5735
 GRCh38
 Duplication
 No
  stamouli_18_ASD/NDD_discovery_cases-family47_Twin_2
  NA NA
 N/A
 N/A
 NDD
 Case is from a monozygotic twin pair from the Discordant NDD diagnostic group
 
 141136695
 141507127
  370433
 GRCh38
 Duplication
 No
  tzetis_12_DD/ID_discovery_cases-case74
 
 M
 DD/ID
 Hypertelorism, downslanting palpebral fissures, epicanthus, short philtrum, arched palate, low set ears, syndactyly, seizures, heart defects, corpus callosum hypoplasia
 
 140909251
 145054634
  4145384
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case83
 
 F
 ASD
 Craniofacial dysmorphism, microcephaly, myopia, prominent ears, small forehead, carp mouth, single palmar crease, small hands, hypertonicity of extremities, ataxia, ASD
 
 140967828
 144511323
  3543496
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case334
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 142552731
 142668654
  115924
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case335
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 142875392
 142912696
  37305
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case336
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 142875392
 142912696
  37305
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case337
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 144969757
 145072757
  103001
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case338
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 144969757
 145072757
  103001
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case339
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 144969757
 145072757
  103001
 GRCh38
 Duplication
 No
  zhou_19_ASD_discovery_cases-caseAU090603
 N/A
 N/A
 ASD
 Diagnosis of ASD by ADI-R and ADOS.
 
 143982882
 143984481
  1600
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  bacchelli_20_ASD_discovery_controls-control20080
  N/A
  F
  Control
  Control
 
  143869577
  143910788
  41212
  GRCh38
  Duplication
  No
  brandler_18_ASD_discovery_controls-controlSSC02899
  N/A
  F
  Control
  Control from SSC_phase1 cohort
 
  142532753
  142534860
  2108
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-controlB299756_1007842055
  N/A
  N/A
  Control
  No previous psychiatric history
 
  144544110
  144655948
  111839
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB490963_1007853895
  N/A
  N/A
  Control
  No previous psychiatric history
 
  143969081
  144172197
  203117
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB519903_1007854381
  N/A
  N/A
  Control
  No previous psychiatric history
 
  143359823
  143409966
  50144
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900805_900805
  N/A
  N/A
  Control
  No previous psychiatric history
 
  144344210
  144375095
  30886
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902848_902848
  N/A
  N/A
  Control
  No previous psychiatric history
 
  139968651
  140046265
  77615
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-10203100189
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  143323958
  144056463
  732506
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-60105104570
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  142464494
  142800874
  336381
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11252.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11252. SRS score of 62.
 
  143213267
  143368645
  155379
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control11252.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11252. SRS score of 62.
 
  143429344
  143465848
  36505
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13815.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13815. SRS score of 44.
 
  144803640
  144804238
  599
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control13825.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13825. SRS score of 71.
 
  143309440
  143318086
  8647
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11252.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  143429344
  143441120
  11777
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11252.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  143213267
  143368645
  155379
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13540.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  143309440
  143331339
  21900
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14152.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  140435111
  140515247
  80137
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11252.s1
  NA
  M
  Control
  NA
  NA
  143192370
  143439472
  247103
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C41783A
  N/A
  M
  Control
  NIMH Control (NIMH ID 95046)
 
  140397618
  140426643
  29026
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11028.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  144999726
  145012895
  13170
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  140992901
  140994094
  1194
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11063.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  144999726
  145010178
  10453
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11252.s1
  11.4
  M
  Control (matched sibling)
  NA
  NA
  143198804
  143435490
  236687
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11504.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  144798538
  144806317
  7780
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  144438306
  144455546
  17241
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11986.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  143717295
  143733121
  15827
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  144920317
  144940831
  20515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12006.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  144850447
  144853479
  3033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  144045204
  144056712
  11509
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  144045204
  144055574
  10371
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12300.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  144999726
  145012895
  13170
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12962.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  142725478
  142727533
  2056
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13035.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  144977000
  145051458
  74459
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13083.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  144999726
  145008454
  8729
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  139245765
  139246755
  991
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family47_Twin_1
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
 
  141115206
  141508012
  392807
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2146
 
 
 Unknown
 Unknown
 Unknown
 MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,IQANK1,PLEC,MROH1,HSF1,TONSL,ARHGAP39
 
 alvarez-mora_22_DD/ID_discovery_cases-case31
 
 
 Paternal
 
 
 TRAPPC9
 
 alvarez_mora_21_ID_discovery_cases-caseFam1-II.1
 aCGH
 
 Paternal
 Multiplex
 
 TRAPPC9
 
 alvarez_mora_21_ID_discovery_cases-caseFam1-II.2
 aCGH
 
 Paternal
 Multiplex
 
 TRAPPC9
 
 asadollahi_14_NDD_discovery_cases-case64035
 MLPA
 
 Maternal
 Unknown
 Unknown
 AGO2
 
 battaglia_13_DD/ID/ASD_discovery_cases-case19
 FISH or qPCR
 
 Maternal
 Unknown
 Unknown
 LINC01300,GPR20,MROH5,HNRNPA1P38,DENND3,SLC45A4,PTP4A3
 
 battaglia_13_DD/ID/ASD_discovery_cases-case64
 FISH or qPCR
 Maternal
 Maternal
 Possible multi-generational
 Segregated
 LINC01300,MIR1302-7,GPR20,MROH5,HNRNPA1P38,SLC45A4,PTP4A3
 
 brandler_18_ASD_discovery_cases-caseSSC02408
 SNP VCF
 
 De novo
 
 
 
 
 celestino-soper_11_ASD_discovery_cases-11399
 
 
 Unknown
 Simplex
 NA
 GPT
 
 chaves_24_ASD/DD/ID_discovery_cases-case995
 
 
 Unknown
 
 
 CYC1,OPLAH,CPSF1,VPS28,HGH1,CYHR1,COMMD5,EXOSC4,SLC39A4,ZNF250,C8orf33,SLC52A2,SCRT1,MAF1,ZNF34,EPPK1,ARHGAP39,SHARPIN,ZNF251,KIFC2,PARP10,PPP1R16A,MFSD3,ADCK5,GRINA,HSF1,GPT,MAPK15,TMEM249,ZNF252P,FAM83H,ZNF517,WDR97,NRBP2,ZNF252P-AS1,TMED10P1,ZNF707,SPATC1,SMPD5,C8orf82,LRRC24,SCX,IQANK1,TSSK5P,MROH1,MIR661,MIR937,MIR939,TONSL,TONSL-AS1,MIR1234,MIR4664,RPL8,PLEC,MIR6845,MIR6847,MIR6848,MIR7112,MIR6893,MIR6850,MIR6846,MIR6849,RN7SL395P,ZNF16,ZNF7,GPAA1,FOXH1,DGAT1,LRRC14,RECQL4,PUF60,BOP1,FBXL6,SCRIB
 
 engchuan_15_ASD_discovery_cases-case1258_4
 
 
 Unknown
 
 
 FAM83H,MIR4664,MIR937,SCRIB,PUF60,IQANK1
 
 engchuan_15_ASD_discovery_cases-case1258_4
 
 
 Unknown
 
 
 MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,PARP10,SPATC1,CYC1,WDR97,PLEC
 
 engchuan_15_ASD_discovery_cases-case1961_302
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3017_3
 
 
 Unknown
 
 
 MIR661,PARP10,PLEC
 
 engchuan_15_ASD_discovery_cases-case3085_3
 
 
 Unknown
 
 
 C8orf33
 
 engchuan_15_ASD_discovery_cases-case4399_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5542_3
 
 
 Unknown
 
 
 RPL8,MIR6850,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,ZNF7
 
 engchuan_15_ASD_discovery_cases-case8630_201
 
 
 Unknown
 
 
 C8orf33
 
 engchuan_15_ASD_discovery_cases-case8737_202
 
 
 Unknown
 
 
 ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,LY6L,ADGRB1,GML,LY6E-DT
 
 girirajan_11_ASD_discovery_cases-Si304
 
 
 Unknown
 Simplex
 
 MIR4472-1,LINC00051,RN7SL260P,ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,TSNARE1,ADGRB1,GML
 
 girirajan_11_ASD_discovery_cases-Si31
 
 
 Unknown
 Simplex
 
 MIR1302-7,MIR4472-1,LINC00051,RN7SL260P,ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,TSNARE1,ADGRB1
 
 girirajan_13a_ASD_discovery_cases-11141.p1
 
 
 Unknown
 Simplex
 Unknown
 SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,LY6H,GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,LY6L,ZNF696,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,GML,LY6E-DT,ZFP41,ZC3H3,IQANK1,PLEC,MROH1,HSF1,TONSL,ZNF623
 
 girirajan_13b_ASD_discovery_cases-36904100666
 
 
 Unknown
 Unknown
 Unknown
 ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,ADGRB1
 
 girirajan_13b_ASD_discovery_cases-48804101682
 
 
 Unknown
 Unknown
 Unknown
 RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,ZC3H3,IQANK1,PLEC,ZNF623
 
 girirajan_13b_ASD_discovery_cases-49906107136
 
 
 Unknown
 Unknown
 Unknown
 MIR4472-1,LINC00051,RN7SL260P,ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,TSNARE1,ADGRB1
 
 han_22_ASD/DD/ID_discovery_cases-caseY21
 
 
 Unknown
 
 
 ZNF34,ARHGAP39,ZNF251,ZNF517,RPL8,MIR6850,RN7SL395P
 
 hnoonual_17_ASD_discovery_cases-caseTM54-3
 
 
 Paternal
 
 
 LINC01300,MIR1302-7,MIR4472-1,LINC00051,RN7SL260P,GPR20,MROH5,HNRNPA1P38,DENND3,SLC45A4,PTP4A3,TSNARE1,ADGRB1
 
 hu_15_ASD/ADHD/DD/ID/EP_discovery_cases-affectedbrother
 FISH
 Both parents
 Maternal
 Multi-generational
 Partial segregation
 ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,ADGRB1,GML,LY6E-DT
 
 hu_15_ASD/ADHD/DD/ID/EP_discovery_cases-proband
 FISH
 Both parents
 Maternal
 Multi-generational
 Partial segregation
 ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,ADGRB1,GML,LY6E-DT
 
 itsara_10_ASD_discovery_cases-HI2158
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,TONSL
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000162
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TMED10P1,ZNF252P-AS1,ZNF252P,C8orf33
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000265
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,RPL8,MIR6850,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,ZNF34,RN7SL395P,MROH1,HSF1,TONSL,ARHGAP39
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 LINC00051,RN7SL260P,TSNARE1,ADGRB1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001862
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TMED10P1,ZNF252P-AS1,ZNF16,ZNF252P,C8orf33
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001991
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRAPPC9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002087
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,HSF1,TONSL,ARHGAP39
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002312
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,ADCK5,CPSF1,VPS28,CYHR1,TONSL
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002340
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01300,MIR1302-7,GPR20,MROH5,HNRNPA1P38,DENND3,SLC45A4,PTP4A3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002380
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,TONSL,ARHGAP39
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002415
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,CYC1,WDR97,BOP1,IQANK1,PLEC,MROH1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004008
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 C8orf17,CHRAC1,ERICD,MIR151A,RNA5SP278,LINC01300,MIR1302-7,MIR4472-1,LINC00051,RN7SL260P,ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,LY6H,GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,RPL8,MIR6850,TMED10P1,ZNF252P-AS1,KCNK9,PEG13,AGO2,GPR20,MROH5,HNRNPA1P38,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,LY6L,ZNF696,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,ZNF16,ZNF252P,C8orf33,TRAPPC9,PTK2,DENND3,SLC45A4,PTP4A3,TSNARE1,ADGRB1,GML,LY6E-DT,ZFP41,ZC3H3,IQANK1,PLEC,MROH1,HSF1,TONSL,ARHGAP39,ZNF7,ZNF623
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004151
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,RPL8,MIR6850,TMED10P1,ZNF252P-AS1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,ZNF16,ZNF252P,C8orf33,MROH1,HSF1,TONSL,ARHGAP39,ZNF7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004377
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CHRAC1,ERICD,PEG13,AGO2,TRAPPC9,PTK2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004438
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,RPL8,MIR6850,TMED10P1,ZNF252P-AS1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,ZNF16,ZNF252P,C8orf33,MROH1,HSF1,TONSL,ARHGAP39,ZNF7
 
 kanduri_15_ASD_discovery_cases-case1877
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, MROH5(dist=630205),MIR4472-1(dist=101169)
 
 krumm_13_ASD_discovery_cases-case11252.p1
 aCGH (Agilent SurePrint G3 4x180K)
 
 Paternal
 Simplex
 Not segregated
 GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,ZNF696,TOP1MT,ZFP41
 
 krumm_13_ASD_discovery_cases-case12534.p1
 
 
 Maternal
 Simplex
 Segregated
 RPL8,MIR6850,ZNF251,ZNF34,RN7SL395P,ZNF517
 
 krumm_13_ASD_discovery_cases-case13815.p1
 
 
 Maternal
 Simplex
 Not segregated
 ZNF517
 
 krumm_15_ASD_discovery_cases-case11252.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MAFA,ZC3H3
 
 krumm_15_ASD_discovery_cases-case11252.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,ZNF696,TOP1MT,ZFP41
 
 krumm_15_ASD_discovery_cases-case11504.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 ZNF517
 
 krumm_15_ASD_discovery_cases-case12015.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RHPN1-AS1,MAFA-AS1,RHPN1,MAFA
 
 krumm_15_ASD_discovery_cases-case12534.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RPL8,MIR6850,ZNF251,ZNF34,RN7SL395P,ZNF517,ARHGAP39
 
 krumm_15_ASD_discovery_cases-case13540.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TOP1MT
 
 krumm_15_ASD_discovery_cases-case13852.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 RPL8,MIR6850,ZNF251,ZNF34,RN7SL395P,ZNF517
 
 kushima_18_SCZ_discovery_cases-caseSCZ2289
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 TRAPPC9
 
 leppa_16_ASD_discovery_cases-AU3307301
 
 
 Paternal
 Simplex
 Unknown
 C8orf17,KCNK9,TRAPPC9
 
 levy_11_ASD_discovery_cases-11252.p1
 
 
 Paternal
 Simplex
 Not segregated
 GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,ZNF696,TOP1MT,RHPN1,MAFA,ZFP41,ZC3H3
 
 levy_11_ASD_discovery_cases-12534.p1
 
 
 Maternal
 Simplex
 Segregated
 RPL8,MIR6850,ZNF251,ZNF34,RN7SL395P,ZNF517,ARHGAP39
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown208
 
 
 De novo
 Unknown
 Unknown
 MIR1302-7,MIR4472-1,LINC00051,RN7SL260P,ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,LY6H,GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,RPL8,MIR6850,TMED10P1,ZNF252P-AS1,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,LY6L,ZNF696,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,ZNF16,ZNF252P,TSNARE1,ADGRB1,GML,LY6E-DT,ZFP41,ZC3H3,IQANK1,PLEC,MROH1,HSF1,TONSL,ARHGAP39,ZNF7,ZNF623
 
 mulle_13_SCZ_discovery_cases_1-caseAJ_8288_2
 
 
 Unknown
 Unknown
 Unknown
 MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,RPL8,MIR6850,TMED10P1,ZNF252P-AS1,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,ZNF16,ZNF252P,C8orf33,HSF1,TONSL,ARHGAP39,ZNF7
 
 napoli_17_ASD_discovery_cases-case30
 RT-PCR
 
 Maternal
 
 
 RNU6-220P,RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,ZNF696,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,ZC3H3,IQANK1,PLEC,ZNF623
 
 oikonomakis_16_ASD_discovery_cases-case472
 
 
 Unknown
 
 
 LINC01300,MIR1302-7,MIR4472-1,LINC00051,RN7SL260P,ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,LY6H,GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,RPL8,MIR6850,GPR20,MROH5,HNRNPA1P38,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,LY6L,ZNF696,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,PTK2,DENND3,SLC45A4,PTP4A3,TSNARE1,ADGRB1,GML,LY6E-DT,ZFP41,ZC3H3,IQANK1,PLEC,MROH1,HSF1,TONSL,ARHGAP39,ZNF7,ZNF623
 
 pinto_10_ASD_discovery_cases-case1961_302
 Illumina550
 
 paternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5542_3
 Agilent1M
 
 De novo
 NA
 NA
 RPL8,MIR6850,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,ZNF7
 
 poultney_13_ASD_discovery_cases-case01HI2184A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPL8,MIR6850,ZNF517
 
 prasad_12_ASD_discovery_cases-case110612L
 qPCR
 
 Paternal
 Simplex
 Segregated
 ZNF517
 
 prasad_12_ASD_discovery_cases-case122686L
 
 
 Unknown
 Unknown
 Unknown
 ZNF7,RPL8,ZNF251,ZNF250,COMMD5,ZNF34,ZNF517
 
 prasad_12_ASD_discovery_cases-case141195L
 
 
 Unknown
 Unknown
 Unknown
 TRAPPC9,KCNK9
 
 prasad_12_ASD_discovery_cases-case146450L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case47389
 qPCR
 
 Maternal
 Multiplex
 Not segregated (deletion not present in affected sibling)
 ZNF517
 
 prasad_12_ASD_discovery_cases-case86605L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-caseL051
 
 
 Unknown
 Unknown
 Unknown
 PTP4A3
 
 qiao_12_ASD_discovery_cases-case10-122A
 
 
 Unknown
 Unknown
 Unknown
 TRAPPC9
 
 reis_17_ASD/ID_discovery_cases-case1
 
 
 De novo
 Multiplex
 Possibly segregated
 HGH1,TSSK5P,MROH1
 
 reis_17_ASD/ID_discovery_cases-case2
 
 
 De novo
 Multiplex
 Possibly segregated
 HGH1,TSSK5P,MROH1
 
 rosenfeld_10_ASD_discovery_cases-case16006
 FISH
 
 Unknown
 Unknown
 Unknown
 TRAPPC9
 
 rosenfeld_10_ASD_discovery_cases-case29119
 FISH
 
 Paternal
 Unknown
 Unknown
 MAFA,ZC3H3,GSDMD,C8orf73,NAPRT1,EEF1D,TIGD5,PYCRL,TSTA3,ZNF623,ZNF707,CCDC166,MAPK15,FAM83H
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MROH6,NAPRT,GSDMD,EEF1D
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-323
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MIR661,GRINA,PARP10,PLEC
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-398
 qPCR
 
 Paternal
 Unknown
 Unknown
 C8orf17,PEG13,TRAPPC9
 
 sanders_11_ASD_discovery_cases-11017.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 PTK2
 
 sanders_11_ASD_discovery_cases-11037.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ZNF252P-AS1,ZNF252P
 
 sanders_11_ASD_discovery_cases-11063.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF252P-AS1,ZNF252P
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PTK2
 
 sanders_11_ASD_discovery_cases-11223.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZFP41
 
 sanders_11_ASD_discovery_cases-11258.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11290.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TRAPPC9
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OPLAH,MIR6846
 
 sanders_11_ASD_discovery_cases-11472.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 MIR6893,TONSL-AS1,CYHR1,TONSL
 
 sanders_11_ASD_discovery_cases-11504.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF517
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MFSD3,RECQL4,GPT
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Both parents
 Simplex (trio)
 NA
 TRAPPC9
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TRAPPC9
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PTK2
 
 sanders_11_ASD_discovery_cases-11999.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF16
 
 sanders_11_ASD_discovery_cases-12006.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RHPN1-AS1,RHPN1
 
 sanders_11_ASD_discovery_cases-12015.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RHPN1-AS1,TOP1MT,RHPN1
 
 sanders_11_ASD_discovery_cases-12048.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 MIR6893,TONSL-AS1,TONSL
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Both parents
 Simplex (trio)
 NA
 SMPD5,OPLAH,SPATC1
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF251,ZNF34,RN7SL395P,ARHGAP39
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF517,ZNF7
 
 sanders_11_ASD_discovery_cases-12629.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RHPN1-AS1,TOP1MT,RHPN1
 
 sanders_11_ASD_discovery_cases-12710.p1
 
 
 Both parents
 Simplex (trio)
 NA
 RHPN1-AS1,RHPN1
 
 sanders_11_ASD_discovery_cases-12939.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SMPD5,OPLAH,MIR6846,SPATC1
 
 sanders_11_ASD_discovery_cases-12962.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 THEM6,LNCOC1
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 PTK2
 
 stamouli_18_ASD/NDD_discovery_cases-family47_Twin_2
 
 
 Unknown
 Simplex
 Not segregated (CNV also present in unaffected twin)
 LINC01300,GPR20,MROH5,HNRNPA1P38,DENND3,SLC45A4,PTP4A3
 
 tzetis_12_DD/ID_discovery_cases-case74
 
 
 Unknown
 Unknown
 
 RNA5SP278,LINC01300,MIR1302-7,MIR4472-1,LINC00051,RN7SL260P,ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,LY6H,GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,RPL8,MIR6850,TMED10P1,ZNF252P-AS1,GPR20,MROH5,HNRNPA1P38,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,LY6L,ZNF696,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,ZNF16,ZNF252P,C8orf33,PTK2,DENND3,SLC45A4,PTP4A3,TSNARE1,ADGRB1,GML,LY6E-DT,ZFP41,ZC3H3,IQANK1,PLEC,MROH1,HSF1,TONSL,ARHGAP39,ZNF7,ZNF623
 
 tzetis_12_DD/ID_discovery_cases-case83
 
 
 Unknown
 Unknown
 
 LINC01300,MIR1302-7,MIR4472-1,LINC00051,RN7SL260P,ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,LY6H,GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,GPR20,MROH5,HNRNPA1P38,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,LY6L,ZNF696,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,PTK2,DENND3,SLC45A4,PTP4A3,TSNARE1,ADGRB1,GML,LY6E-DT,ZFP41,ZC3H3,IQANK1,PLEC,MROH1,HSF1,TONSL,ZNF623
 
 yin_16_ASD_discovery_cases-case334
 
 
 Unknown
 Unknown
 Unknown
 ARC,MROH4P,JRK
 
 yin_16_ASD_discovery_cases-case335
 
 
 Unknown
 Unknown
 Unknown
 CYP11B1,CYP11B2,GML
 
 yin_16_ASD_discovery_cases-case336
 
 
 Unknown
 Unknown
 Unknown
 CYP11B1,CYP11B2,GML
 
 yin_16_ASD_discovery_cases-case337
 
 
 Unknown
 Unknown
 Unknown
 TMED10P1,ZNF252P-AS1,ZNF252P,C8orf33
 
 yin_16_ASD_discovery_cases-case338
 
 
 Unknown
 Unknown
 Unknown
 TMED10P1,ZNF252P-AS1,ZNF252P,C8orf33
 
 yin_16_ASD_discovery_cases-case339
 
 
 Unknown
 Unknown
 Unknown
 TMED10P1,ZNF252P-AS1,ZNF252P,C8orf33
 
 zhou_19_ASD_discovery_cases-caseAU090603
 qPCR
 
 Maternal
 
 
 PARP10
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20080
 
 
  Unknown
 
 
  EPPK1
 
brandler_18_ASD_discovery_controls-controlSSC02899
  PCR or SNP data validation (SNP VCF)
 
  De novo
 
 
  ADGRB1
 
engchuan_15_ASD_discovery_controls-controlB299756_1007842055
 
 
  Unknown
 
 
  ARHGAP39
 
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
 
 
  Unknown
 
 
  GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,PARP10,SPATC1,CYC1,WDR97,PLEC,MROH1
 
engchuan_15_ASD_discovery_controls-controlB519903_1007854381
 
 
  Unknown
 
 
  RHPN1-AS1,TOP1MT,RHPN1
 
engchuan_15_ASD_discovery_controls-controlHABC_900805_900805
 
 
  Unknown
 
 
  TMEM249,FBXL6,SLC52A2,ADCK5
 
engchuan_15_ASD_discovery_controls-controlHABC_902848_902848
 
 
  Unknown
 
 
  TRAPPC9
 
girirajan_13b_ASD_discovery_controls-10203100189
 
 
  Unknown
 
 
  RNU6-220P,RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,ZC3H3,IQANK1,PLEC,ZNF623
 
girirajan_13b_ASD_discovery_controls-60105104570
 
 
  Unknown
 
 
  ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,ADGRB1
 
krumm_13_ASD_discovery_controls-control11252.s1
 
 
  Paternal
  Simplex
 
  GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,ZNF696,TOP1MT,ZFP41
 
krumm_13_ASD_discovery_controls-control11252.s1
 
 
  Paternal
  Simplex
 
  MAFA,ZC3H3
 
krumm_13_ASD_discovery_controls-control13815.s1
 
 
  Maternal
  Simplex
 
  ZNF517
 
krumm_13_ASD_discovery_controls-control13825.s1
 
 
  Maternal
  Simplex
 
  TOP1MT
 
krumm_15_ASD_discovery_controls-control11252.s1
  Illumina 1M
 
  Paternal
 
 
  MAFA,ZC3H3
 
krumm_15_ASD_discovery_controls-control11252.s1
  Illumina 1M
 
  Paternal
 
 
  GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,ZNF696,TOP1MT,ZFP41
 
krumm_15_ASD_discovery_controls-control13540.s1
  1M-Duov3
 
  Maternal
 
 
  TOP1MT
 
krumm_15_ASD_discovery_controls-control14152.s1
  Omni2.5-4v1
 
  Maternal
 
 
  CHRAC1,TRAPPC9
 
levy_11_ASD_discovery_controls-11252.s1
 
 
  Paternal
  Simplex
  NA
  GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,ZNF696,TOP1MT,RHPN1,MAFA,ZFP41,ZC3H3
 
poultney_13_ASD_discovery_controls-control05C41783A
  qPCR
 
  Unknown
 
 
  TRAPPC9
 
sanders_11_ASD_discovery_controls-11028.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF252P-AS1,ZNF252P
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PTK2
 
sanders_11_ASD_discovery_controls-11063.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF252P-AS1,ZNF252P
 
sanders_11_ASD_discovery_controls-11252.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,ZNF696,TOP1MT,RHPN1,MAFA,ZFP41
 
sanders_11_ASD_discovery_controls-11504.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF517
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TONSL-AS1,CYHR1,TONSL
 
sanders_11_ASD_discovery_controls-11986.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FAM83H,MIR4664,MAPK15
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF16
 
sanders_11_ASD_discovery_controls-12006.s1
 
 
  Maternal
  Simplex (quad)
  NA
  COMMD5
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SMPD5,OPLAH,SPATC1
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SMPD5,OPLAH,SPATC1
 
sanders_11_ASD_discovery_controls-12300.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF252P-AS1,ZNF252P
 
sanders_11_ASD_discovery_controls-12962.s1
 
 
  Paternal
  Simplex (quad)
  NA
  THEM6,LNCOC1
 
sanders_11_ASD_discovery_controls-13035.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TMED10P1,ZNF252P-AS1,ZNF252P
 
sanders_11_ASD_discovery_controls-13083.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF252P-AS1,ZNF252P
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
stamouli_18_ASD/NDD_discovery_controls-family47_Twin_1
 
 
  Unknown
  Simplex
 
  LINC01300,GPR20,MROH5,HNRNPA1P38,DENND3,SLC45A4,PTP4A3
 

No Animal Model Data Available
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