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12p13.33CNV Type: Deletion-Duplication


Largest CNV size: 92328 bp

Statistics Box:
Number of Reports: 37


Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder.
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.
Deletion
A large data resource of genomic copy number variation across neurodevelopmental disorders
Duplication
KDM5A mutations identified in autism spectrum disorder using forward genetics
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-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
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
NA
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ben-david_11_ASD_discovery_cases
 Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.
 17
 Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3
 
 70.59% Male
 9000
 1
 0
 1
 el_hayek_21_ASD/DD/ID_discovery_cases
 Patients from seven families with de novo or homozygous KDM5A variants identified through GeneDx and GeneMatcher
 9
 Cases presented with intellectual disability (9/9), developmental delay (8/9), and ASD (7/9).
 Range, 3-40 yrs.
 44.44% Male
 49695
 6
 0
 6
 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
 300121
 5
 1
 6
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 738485
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 470000
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1686899
 3
 2
 5
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 363640
 4
 1
 5
 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
 53896
 1
 0
 1
 kushima_22_BPD_discovery_cases
 Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
 1818
 Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
 Median age, 48 yrs.
 46.7% Male
 54622
 1
 0
 1
 kushima_22_SCZ_discovery_cases
 Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
 3014
 Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 45 yrs.
 53.5% Male
 53897
 1
 0
 1
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 352977
 0
 1
 1
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 34000
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 58371
 2
 1
 3
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 92328
 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
 124000
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 96000
 0
 1
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 417876
 0
 1
 1
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 465446
 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
 1800000
 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
 
 
 36613
 8
 0
 8
 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)
 326265
 1
 4
 5
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 60971
 6
 3
 9
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 204497
 1
 0
 1
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 276000
 0
 1
 1
 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
 
 
 438493
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 57885
 63
 2
 65
 sandoval_talamantes_23_ASD_discovery_cases
  NA NA
 ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
 212
 All cases met DSM-5 diagnostic criteria for ASD.
 Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
 87.73% Male
 335010
 0
 1
 1
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 31000
 1
 0
 1
 silva_14_ASD_discovery_cases
 First of three children of non-consanguineous healthy parents presented for evaluation of neurodevelopmental delay
 1
 Case met DSM-IV criteria for diagnosis of ASD at age of 2.5 years; symptoms considered mild-moderate according to Childhood Autism Rating Scale (CARS)
 8 yrs.
 Male
 1500000
 1
 0
 1
 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
 83730
 0
 2
 2
 thevenon_12_CAS/DVD_discovery_cases
 Nine patients with a 12p13.33 subtelomeric or interstitial rearrangement from a French collaboration (n=7) together with a search in the DECIPHER database (n=2).
 9
 Patients evaluated by speech therapists for speech disorders. Diagnosis of childhood apraxia of speech/developmental verbal dyspraxia (CAS/DVD) made when a patient met the following criteria: (1) presence of significantly abnormal oro-facial praxis (assessed by Henin-Dulac scale) and (2) presence of five or more key features of CAS.
 Range, 3-67 yrs.
 88.9% Male
 3100000
 6
 0
 6
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 61296
 1
 0
 1
 werling_19_ASD_discovery_cases
  NA NA
 Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
 108
 Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
 Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
 86.11% Male
 306700
 0
 1
 1
 wu_24_ASD/ADHD/DD/ID_discovery_cases
 Children with unexplained neurodevelopmental disorders and one of more neurodevelopmental comorbidities who had undergone trio-WES and were admitted to the Children's Medical Center of Sun Yat-sen Memorial Hospital, Sun Yat-sen University from October 2018 to December 2022.
 163
 Diagnoses of ASD, ADHD, and/or global developmental delay/intellectual disability were made following DSM-V diagnostic criteria.
 
 
 2581430
 1
 0
 1
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 156000
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 90360
 3
 1
 4
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 56999
 0
 1
 1
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 56449
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 4525
 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
 649248
 4
 6
 10
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 738485
 NA
 NA
 NA
 itsara_10_ASD_discovery_controls_1
 Unaffected siblings of ASD probands from multiplex (n=368) and simplex (n=59) families from AGRE collection
 427
 Controls: Unaffected or Not Met
 
 
 149646
 0
 1
 1
 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
 482029
 3
 2
 5
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 34599
 3
 0
 3
 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
 kushima_22_ASD/BPD/SCZ_discovery_controls
 Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
 2671
 Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
 Median age, 36 yrs.
 47.8% 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
 58371
 0
 1
 1
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 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)
 356384
 2
 1
 3
 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)
 60971
 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.
 
 46698
 37
 2
 39
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 61296
 N/A
 N/A
 N/A
 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
 90360
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 ben-david_11_ASD_discovery_cases
 
 Array SNP
  Affymetrix 6.0
 Canary, PennCNV
 Affymetrix Genotyping Console
 
 el_hayek_21_ASD/DD/ID_discovery_cases
  European, Middle Eastern, and Hispanic
 WGS, CMA
  Illumina
 
 
 CMA
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 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
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_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
 kushima_22_BPD_discovery_cases
  Japan
 aCGH
  Agilent SurePrint G3 Human CGH 400K
 Fast Adaptive States Segmentation Technique 2
 BioDiscovery Nexus Copy Number v.9.0
 qRT-PCR
 kushima_22_SCZ_discovery_cases
  Japan
 aCGH
  NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
 Fast Adaptive States Segmentation Technique 2
 BioDiscovery Nexus Copy Number v.9.0
 qRT-PCR
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 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
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 FISH
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 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
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 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
 
 
 sandoval_talamantes_23_ASD_discovery_cases
  Spain
 aCGH
  KaryoArray v.3.0
 NA
 Agilent CytoGenomics
 None
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None
 silva_14_ASD_discovery_cases
  European
 aCGH
  BACs aCGH (SignatureChip Whole Genome)
 
 
 FISH
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 thevenon_12_CAS/DVD_discovery_cases
  France (n=7), England (n=1), Canada (n=1)
 aCGH, array SNP
  Agilent 44K, Agilent 105K, Agilent 180K, Agilent 244K, Affymetrix 6.0
 
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 qPCR, FISH
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 werling_19_ASD_discovery_cases
  Europe
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 wu_24_ASD/ADHD/DD/ID_discovery_cases
  China
 WES
  Illumina Novaseq 6000
 
 Picard v.2.18.2, GATK Haplotype Caller v.4.0.4, ANNOVAR v2019/10/24
 CMA
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_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_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  itsara_10_ASD_discovery_controls_1
 
  Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
  HMM
  Illumina GenomeStudio
  aCGH (custom NimbleGen 12 X 135)
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  kushima_22_ASD/BPD/SCZ_discovery_controls
  Japan
  aCGH
  NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
  Fast Adaptive States Segmentation Technique 2
  BioDiscovery Nexus Copy Number v.9.0
  qRT-PCR
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  ben-david_11_ASD_discovery_cases-proband26
 NA
 NA
 ASD
 NA
 NA
 1324438
 1333073
  9000
 Unknown
 Deletion
 No
  el_hayek_21_ASD/DD/ID_discovery_cases-caseKD-2-3
 12 yrs.
 F
 ASD, developmental delay, intellectual disability, and epilepsy/seizures
 Developmental milestones: developmental delay. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: motor impairment, muscular hypotonia, difficulty walking, cerebral palsy. Behavioral/psychiatric evaluation: ASD, impaired social interactions, motor stereotypies (including hand-wringing and bruxism). Epilepsy/seizures: focal seizures with onset at 9 years. Brain imaging: hypoplasia of the corpus callosum. Additional medical history: feeding difficulties, atrial septal defect, failure to thrive, gastroesophageal reflux, small accessory loop of the small bowel, anterior segment dysgenesis of the right ocular globe with an eccentric pupil, posterior embryotoxon, iris hypoplasia, strabismus. Dysmorphic features: hypertelorism, prominent glabellar region. Growth parameters: weight 90th %ile, height 96th %ile, borderline microcephaly (head circumference <5th %ile). Family history: one of two affected siblings born to consanguineous parents of Afghani ancestry from Canada; both parents and two unaffected siblings were heterozygous carriers for this deletion.
 Severe intellectual disability
 351494
 361476
  9983
 GRCh38
 Deletion
 Yes
  el_hayek_21_ASD/DD/ID_discovery_cases-caseKD-2-4
 8 yrs.
 M
 ASD, developmental delay, and intellectual disability
 Developmental milestones: profound global developmental delay. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: motor impairment, muscular hypotonia, inability to walk, cerebral palsy. Behavioral/psychiatric evaluation: ASD. Brain imaging: hypoplasia of the corpus callosum, mild hippocampal atrophy. Additional medical history: feeding difficulties, strabismus. Dysmorphic features: hypertelorism, prominent glabellar region. Growth parameters: increased body weight (weight 99th %ile), tall stature (height 99th %ile), macrocephaly (head circumference 99th %ile). Family history: one of two affected siblings born to consanguineous parents of Afghani ancestry from Canada; both parents and two unaffected siblings were heterozygous carriers for this deletion.
 Intellectual disability
 351494
 361476
  9983
 GRCh38
 Deletion
 Yes
  el_hayek_21_ASD/DD/ID_discovery_cases-caseKD-7-3
 13 yrs.
 F
 Developmental delay and intellectual disability
 Developmental milestones: developmental delay, delayed ability to sit (8-10 years), delayed ability to crawl (8-10 years), delayed ability to walk (8-10 years). Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: motor impairment, muscular hypotonia, reciprocating shuffling-type gait, progressive joint contractures and muscle weakness that had necessitated assisted ambulation, dextroscoliosis, progressive joint contractures at the knees and elbows. Behavioral/psychiatric evaluation: self-injurious behavior. Additional medical history: heart murmur, coarctation of the aorta, recurrent infections. Dysmorphic features: flat midface, proptosis, low-set ears, broad forehead, broad nasal tip, high nasal bridge, high palate. Growth parameters: proportionate undergrowth; Marfanoid habitus; decreased body weight (weight <1st %ile), short stature (height <1st %ile), microcephaly (head circumference <2nd %ile). Family history: born to a non-consanguineous family from the United States of Hispanic ancestry.
 Severe intellectual disability
 348929
 398623
  49695
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1260_10
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 677072
 709383
  32312
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1391_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 465816
 502428
  36613
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14417_5260
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 442129
 742250
  300122
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3193_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 465816
 502428
  36613
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5061_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1839781
 1874616
  34836
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case9610_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1839781
 1877878
  38098
 GRCh38
 Deletion
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case51237
 8 yrs. 11 mos.
 M
 Developmental delay
 Severe speech delays. Behavioral problems: fidgety and active. Normal tone. Dysmorphic features: long palpebral fissures, midface hypoplasia, prominent ears with absence of antihelical fold. Congenital anomalies: retinal coloboma, cleft palate with fistula. Growth parameters: weight 50th %ile, height 25th %ile, OFC +1.0 SD. Family history: father had learning disability; mother has seizures at 29 years; paternal family history of cleft palate.
 Learning disability
 1054651
 1793136
  738486
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-13008.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
 200573
 670573
  470001
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000819
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 832749
 1632145
  799397
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001936
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2686912
 2733167
  46256
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002027
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 99592
 1786491
  1686900
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002288
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77187
 356623
  279437
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002424
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1453550
 2575642
  1122093
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12356.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1840738
 1875337
  34600
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13008.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 201761
 565401
  363641
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13085.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 438334
 441920
  3587
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14047.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1840738
 1875337
  34600
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14244.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 411746
 428865
  17120
 GRCh38
 Deletion
 Yes
  kushima_18_SCZ_discovery_cases-caseSCZ0607
 49 yrs.
 M
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 22 years of age (core symptoms include delusions, hallucinations, cognitive decline). Physical comorbidities: knee osteoarthritis. Family history: negative.
 IQ > 70
 2687956
 2741851
  53896
 GRCh38
 Deletion
 N/A
  kushima_22_BPD_discovery_cases-caseBD0797
 NA
 NA
 Bipolar disorder
 Diagnosis of bipolar disorder according to DSM-5 criteria.
 
 2685310
 2739931
  54622
 GRCh38
 Deletion
 Yes
  kushima_22_SCZ_discovery_cases-caseSCZ0607
 NA
 NA
 Schizophrenia
 Diagnosis of schizophrenia according to DSM-5 criteria.
 
 2687955
 2741851
  53897
 GRCh38
 Deletion
 Yes
  lee_17_ASD/DD/ID/MCA_discovery_cases-case16
 5 yrs.
 F
 Developmental delay
 Developmental delay, mitochondrial disorder
 
 1844823
 2197800
  352978
 GRCh38
 Duplication
 No
  lesca_12_EP_discovery_cases-case16-1514
 NA
 F
 Epilepsy
 Phenotype: LKS-wiESES. Seizure Characteristics: Awake and nocturnal GTCS . Autistic features: No. ADHD features: Yes. Other features: mutism.
 Initial cognitive development: Normal. Cognitive regression: Yes. Performance IQ 92 (at 7 years of age).
 465561
 499255
  33695
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11398.p1
 NA
 M
 ASD
 NA
 NA
 2684211
 2742581
  58371
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12356.p1
 NA
 M
 ASD
 NA
 NA
 1839884
 1874605
  34722
 GRCh38
 Homozygous deletion
 No
  marshall_08_ASD_discovery_cases-SK0218-003
 NA
 F
 ASD
 RL/EL noverbal, severe repetitive behavior and dysmorphism, seizures, hypotonia
 LOF severely impaired
 1780657
 1872985
  92329
 GRCh38
 Deletion
 Yes
  napoli_17_ASD_discovery_cases-case34
 N/A
 M
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
 
 180482
 304735
  124254
 GRCh38
 Deletion
 Yes
  nava_13_ASD_discovery_cases-Fam859Proband9985
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 88675
 184347
  95673
 GRCh38
 Duplication
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC41115
 N/A
 F
 Intellectual disability
 Database: Signature. Indication for study: Lack of coordination, Severe intellectual disability, Unspecified disorder of metabolism
 Severe intellectual disability
 746239
 1164115
  417877
 GRCh38
 Duplication
 Yes
  o'roak_12_ASD_discovery_cases-case13008.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo KALRN synonymous mutation. No additional clinical info available.
 Low IQ. Non verbal IQ, 50
 200587
 666033
  465447
 GRCh38
 Duplication
 Yes
  oikonomakis_16_ASD_discovery_cases-case595
 3 yrs.
 F
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: strabismus
 
 207666
 2053584
  1845919
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1260_10
 NA
 M
 ASD
 NA
 NA
 677072
 709383
  32312
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case1391_302
 NA
 F
 ASD
 NA
 NA
 465816
 502428
  36613
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5004_3
 NA
 M
 Autism
 Language delay, no epilepsy, no dysmorphic features
 Below average nonverbal IQ (<1%ile)
 2136470
 2148329
  11860
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5061_3
 NA
 M
 ASD
 No epilepsy, premature ( 28 wks), brain dysfunction, soft neurological signs, amblyopia, hair whorls, 5th finger clinodactyly, long 3rd toe, toe syndactyly
 Below average IQ (<1%ile)
 1839781
 1874616
  34836
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5065_3
 NA
 M
 Autism
 Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
 Below average nonverbal IQ (<1%ile)
 2136470
 2148329
  11860
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5106_3
 NA
 M
 ASD
 Language delay, no epilepsy, no dysmorphic features, CT scan normal
 Below average nonverbal IQ (<1%ile)
 2136470
 2148329
  11860
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5136_4
 NA
 M
 Autism
 Language delay, no epilepsy, no dysmorphic features
 Average IQ
 2136470
 2148329
  11860
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5269_3
 NA
 M
 Autism
 Delayed language development but average language (53%ile), no epilepsy, no dysmorphic features
 Above average IQ
 2136470
 2148329
  11860
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case05HI3719A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1325301; NDAR ID NDAR_INVJC684GK1)
 
 1840739
 1875337
  34599
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 884119
 1112300
  228182
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 428767
 441922
  13156
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1144B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
 
 237924
 430738
  192815
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1144B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
 
 857159
 1183423
  326265
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case100149
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 424724
 485694
  60971
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case143560
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 444788
 483993
  39206
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case157926
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 643607
 677388
  33782
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case168866
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 1432461
 1447783
  15323
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case44644
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 1819774
 1855007
  35234
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case63206
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 444788
 483993
  39206
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case75456
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 1809978
 1817731
  7754
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85177L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 1652156
 1695788
  43633
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case90412
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 1321756
 1332345
  10590
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_45
 15 yrs.
 M
 Intellectual disability and ADHD
 ADHD, behavioral problems. First degree relative with ID.
 Mild intellectual disability
 2257350
 2461846
  204497
 GRCh38
 Deletion
 No
  roberts_13_ASD/DD/ID_discovery_cases-ASDcase6
 9 yrs.
 M
 ASD
 No reported clinical features
 
 2370762
 2646678
  275917
 GRCh38
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case2074
 NA
 NA
 ASD
 NA
 NA
 152513
 591006
  438493
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11004.p1
 15.8
 M
 ASD
 NA
 Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
 2138013
 2148329
  10317
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11059.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11069.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11089.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 39
 2138013
 2148329
  10317
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11117.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
 2138013
 2143758
  5746
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11156.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11165.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
 1152246
 1179061
  26816
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11168.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11193.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11203.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11218.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
 2136470
 2148329
  11860
 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
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11262.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11276.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
 2138013
 2143758
  5746
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11323.p1
 8.6
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11325.p1
 15.6
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 21
 2138013
 2148329
  10317
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11330.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11368.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11395.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 127; verbal IQ, 87
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11397.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 120
 2138013
 2148329
  10317
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11398.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
 2705912
 2734711
  28800
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11464.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
 2138013
 2148329
  10317
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11495.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 1085135
 1090261
  5127
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11508.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 83; verbal IQ, 75
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11545.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11561.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
 2138013
 2148329
  10317
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11709.p1
 6.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59
 1832766
 1864218
  31453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11712.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
 43334
 76811
  33478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11753.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11766.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 96
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11806.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
 43334
 76811
  33478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11811.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
 43334
 76811
  33478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11827.p1
 17.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11828.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11881.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 90; verbal IQ, 89
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11920.p1
 10.8
 M
 Aspergers
 NA
 Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11984.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12062.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 126; verbal IQ, 120
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12091.p1
 4.4
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12120.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
 2688013
 2734711
  46699
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12170.p1
 7.8
 F
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12180.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12194.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
 2138013
 2143758
  5746
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12208.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
 1455832
 1494262
  38431
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12224.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12241.p1
 4.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12265.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
 1092380
 1102410
  10031
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12356.p1
 5.8
 M
 Aspergers
 NA
 Full-scale IQ, 113; non-verbal IQ, 104; verbal IQ, 123
 1839781
 1881225
  41445
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12445.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12447.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 60; verbal IQ, 45
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12492.p1
 15.4
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 30; verbal IQ, 19
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12592.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 119; verbal IQ, 106
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12607.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12626.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 111; verbal IQ, 76
 2036341
 2040620
  4280
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12674.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
 2136470
 2149783
  13314
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12948.p1
 17.9
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
 2136470
 2148329
  11860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13016.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 2138013
 2143758
  5746
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 1523089
 1580974
  57886
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13085.p1
 14.8
 M
 ASD
 NA
 Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
 436724
 442384
  5661
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13088.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
 2136470
 2149783
  13314
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13192.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 94
 2138013
 2143758
  5746
 GRCh38
 Deletion
 No
  sandoval_talamantes_23_ASD_discovery_cases-caseAUT152
  NA NA
 NA
 NA
 ASD
 Case met DSM-5 diagnostic criteria for ASD. Mosaic duplication (x2-3).
 
 214091
 549100
  335010
 GRCh38
 Duplication
 No
  shen_10_ASD_discovery_cases-ASD-09-052
 NA
 F
 PDD-NOS
 NA
 NA
 1841667
 1873367
  31701
 GRCh38
 Deletion
 No
  silva_14_ASD_discovery_cases-case1
 8 yrs.
 M
 ASD
 Case met DSM-IV criteria for diagnosis of ASD at age of 2.5 years; symptoms considered mild-moderate according to Childhood Autism Rating Scale (CARS). Birth/neonatal history: uneventful 39-week pregnancy, with no exposures to known teratogens; born by normal spontaneous delivery; birth weight of 3156 kg (10th-25th %ile), length of 51 cm (50th-75th %ile), and head circumference of 34 cm (10th-25th %ile); Apgar scores 9 and 10 at 1 and 5 min; born with spina bifida occulta. Developmental milestones: early developmental concerns due to lack of eye contact at 1 year of age; delayed language development, first words at age of 3 years; able to sit up around 5 months, to crawl at 11 months,and to walk by age of 1 year 3 months. Behavioral/psychiatric evaluation: good humor, tendency for isolation, few friends, stereotypies, anxiety, hyperactivity, moderate difficulty in changing routines, excessive focus on specific objects and games; flair for music; high sensitivity to noises. Brain imaging: normal results on brain MRI. Growth parameters: weight of 21 kg (3rd-10th %ile), height of 1.30 m (50th-75th %ile), and head circumference of 53 cm (50th-90th %ile) at age of 8 years. Family history: first of three children of non-consanguineous healthy parents of European origin (both of whom were 30 years old at time of case's birth); two younger brothers developing normally; father not available for DNA testing.
 Currently attending a regular school with good academic performance; displays especially good memory.
 94918
 1576465
  1481548
 GRCh38
 Deletion
 Yes
  stamouli_18_ASD/NDD_discovery_cases-family64_Twin_1
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a dizygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
 
 384089
 467818
  83730
 GRCh38
 Duplication
 No
  stamouli_18_ASD/NDD_discovery_cases-family64_Twin_2
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a dizygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
 
 384089
 467818
  83730
 GRCh38
 Duplication
 No
  thevenon_12_CAS/DVD_discovery_cases-patient3
 5 yrs.
 M
 CAS/DVD, intellectual disability, and autistic features
 Birth/neonatal history: uneventful pregnancy; born at 40 weeks of gestation (weight 2800 g, length 47 cm, OFC 34 cm). Developmental milestones: walking at 13 months; delayed speech with first sentences pronounced at 3.5 years. Langauge and communication evaluation (orthophonic findings): CAS/DVD (childhood apraxia of speech/developmental verbal dyspraxia); expressive speech remained insufficient with speech production trouble; Henin-Dulac test revealed praxis troubles (Z-scores between -4 and -7 SD) associated with dysphasic symptoms. Behavioral/psychiatric evaluation: behavioral abnormalities noted at 3 years of age with hyperactivity, anxiety, solitariness, and low social interactions; several stereotypies noticed in response to stress. Sleep disturbances: none. Schooling: standard schooling interrupted before start of primary school, special needs. Auditory evaluation: normal. Dysmorphic features: none. Growth parameters: above normal; height of 118 cm (+2.1 SD), weight of 21 kg (+2.2 SD), OFC of 53 cm (+1.2 SD). Family history: only child of young healthy non-consanguineous parents; father and paternal grandfather with speech production troubles and ADHD features (hyperactivity).
 Intellectual disability
 212976
 1367044
  1154069
 GRCh38
 Deletion
 Yes
  thevenon_12_CAS/DVD_discovery_cases-patient4
 37 yrs.
 M
 Speech delay + ADHD features
 Developmental milestones: past history of speech delay. Langauge and communication evaluation (orthophonic findings): severe speech production troubles, stammering and unarticulated words; difficulty in learning how to read and write. Behavioral/psychiatric evaluation: ADHD (hyperactivity noticed in infancy). Schooling: stopped school before 7th grade at 15 years of age. Dysmorphic features: none. Family history: son with CAS/DVD, ASD, ADHD, and intellectual disability; father with speech production trouble, ADHD, and borderline intellectual disability.
 No intellectual disability
 212976
 1367044
  1154069
 GRCh38
 Deletion
 Yes
  thevenon_12_CAS/DVD_discovery_cases-patient5
 67 yrs.
 M
 Intellectual disability + ADHD features
 Developmental milestones: age of first words unknown. Langauge and communication evaluation (orthophonic findings): Speech production trouble with many unarticulated words. Behavioral/psychiatric evaluation: ADHD; hyperactivity. Schooling: stopped before high school at 17 years of age. Dysmorphic features: none. Family history: son with speech production trouble and ADHD; grandson with CAS/DVD, ASD, ADHD, and intellectual disability.
 Borderline intellectual disability
 212976
 1367044
  1154069
 GRCh38
 Deletion
 Yes
  thevenon_12_CAS/DVD_discovery_cases-patient6
 5 yrs.
 M
 CAS/DVD, intellectual disability, and autistic features
 Birth/neonatal history: delivery by C-section at 28 weeks of gestation due to premature rupture of membranes and cord relapse (weight of 1320 g); ventilated fro 2 days, then on continuous positive airway pressure for several weeks; remained in neonatal ICU for 8 weeks for jaundice and anemia; passed neonatal hearing test and started feeding well. Developmental milestones: smiled at 18 weeks, sat between 6-9 months, walked at 14 months (uncoordinated); developmental delay with late speech noted. Langauge and communication evaluation (orthophonic findings): CAS/DVD (childhood apraxia of speech/developmental verbal dyspraxia); able to say a dozen words with first associated words; most of problems in area of speech and language; speech evaluation limited by ID and concentration troubles; delayed but satisfactory comprehension skills; lower expressive skills; very slow progress in therapy noted by therapist; inability to repeat words before age of 10 years; oro-facial praxis not acquired; speech improving by 5 years of age. Motor evaluation: fine psychomotor difficulties; mild hypotonia; generalized joint laxity. Behavioral/psychiatric evaluation: autistic features (diagnosis of autism suggested by not formally confirmed); did not mix well with other children, poor communication skills, no motivation to learn, delay in toilet training; ADHD features (concentration troubles). Brain imaging: normal brain MRI. Sleep disturbances: excessive snoring. Schooling: special needs. Dysmorphic features: myopathic facies and tented upper lip, highly arched palate. Growth parameters: height of 98.7 cm (75th %ile), weight of 16.14 kg (75th %ile), OFC of 52 cm (50th %ile). Family history: one of non-identical twins born to a healthy Caucasian couple following assisted conception; twin brother developing normally.
 Intellectual disability
 NA
 NA
  3100000
 NCBI36
 Deletion
 Yes
  thevenon_12_CAS/DVD_discovery_cases-patient7
 >11 yrs.
 M
 Intellectual disability and ADHD
 Birth/neonatal history: unremarkable pregnancy; patient born at 40 weeks of gestation (weight 2820 g, length 47 cm, OFC 34 cm); no problems during neonatal period. Developmental milestones: crwaling at 18 months, delay in walking (still not acquired at 22 months), speech delay noticed later (first words at 3.5 years). Langauge and communication evaluation (orthophonic findings): not determined. Behavioral/psychiatric evaluation: Diagnosed with anxiety and ADHD. Schooling: special needs. Dysmorphic features: long face with large ears and prominent lobes, epicanthus, large incisors with dental malocclusion. Growth parameters: height of 113 cm (+1 SD), weight of 7.3 kg (-1 SD), OFC 47.5 cm (-3.5 SD). Family history: first child of young healthy parents; younger sister with normal psychomotor development and schooling.
 Intellectual disability
 1100573
 3870573
  2770001
 GRCh38
 Deletion
 Yes
  thevenon_12_CAS/DVD_discovery_cases-patient8
 10 yrs.
 M
 Intellectual disability and ADHD
 Birth/neonatal history: normal pregnancy but complicated by premature rupture of membranes at 31 weeks of gestation; born at 32 weeks (birth weight 1.9 kg); neonatal period complicated by hospitalization in ICU for hypothermia and feeding difficulties. Developmental milestones: delayed psychomotor development (independent walking acquired at ~30 months), poor fine motor skills; first words at 36 months; abnormal speech production noted and speech therapy quickly started. Langauge and communication evaluation (orthophonic findings): speech production trouble. Behavioral/psychiatric evaluation: described as fearful child with poor concentration skills; diagnosis of ADHD raised after neuropsychological evaluation . Schooling: normal schooling until age of 10 years (grade 4), then special needs school . Other medical concerns and comorbidities: surgery for inguinal hernia at 9 years. Dysmorphic features: mild non-specific dysmorphism, micrognathia, prominent ears. Growth parameters (at 9 years): mild microcephaly; 125 cm for height (25e %ile), 20 kg for weight (3e %ile), OFC of 49.5 cm (3e %ile). Family history: young non-consanguienous parents of Indian origin, healthy younger brother; maternal uncle with low academic skills.
 Intellectual disability. Marked delay in arithmetic problem solving, sub-normal skills in reading, normal skills in spelling.
 54452
 2558097
  2503646
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case2-1175-003
 N/A
 M
 ASD
 N/A
 N/A
 444925
 506220
  61296
 GRCh38
 Deletion
 No
  werling_19_ASD_discovery_cases-caseA17W
  NA NA
 18 yrs.
 M
 ASD
 Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.5); diagnosis confirmed using either ADOS or ADI-R (ADOS score 7; ADI-R A/B/C/D scores 18/11/5/2)
 IQ score 129 (WAIS-R)
 2558577
 2865276
  306700
 GRCh38
 Duplication
 No
  wu_24_ASD/ADHD/DD/ID_discovery_cases-case45
 8 yrs.
 F
 ASD, ADHD, and developmental delay/intellectual disability
 Severe-profound global developmental delay/intellectual disability, comorbid diagnoses of ASD and ADHD, abnormal brain MRI (cerebral cortex dysplasia), dysmorphic facial features (high palate, hypertelorism, broad nasal bridge), allergic constitution.
 Severe-profound global developmental delay/intellectual disability
 99146
 2680575
  2581430
 GRCh38
 Deletion
 Yes
  xu_16_ASD/DD/ID_discovery_cases-case39
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
 
 754311
 900840
  146530
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case424
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 45740
 94474
  48735
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case425
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 482134
 526093
  43960
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case426
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 1678867
 1769226
  90360
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case427
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 1678867
 1769226
  90360
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-caseAU3263301
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 2683835
 2740834
  57000
 GRCh38
 Duplication
 No
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case9-0026-003
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 2685424
 2741872
  56449
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_controls-controlSSC03482
  N/A
  F
  Control
  Control from SSC_phase1 cohort
 
  2354010
  2358535
  4526
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-controlB178717_1007875826
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2136470
  2167682
  31213
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB252606_1007874475
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1319187
  1439805
  120619
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB252606_1007874475
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1910156
  2559404
  649249
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB401883_1007874319
  N/A
  N/A
  Control
  No previous psychiatric history
 
  434929
  793913
  358985
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB529705_1007840923
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2136470
  2167682
  31213
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB630497_1007872229
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2106282
  2148329
  42048
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB709920_1007843547
  N/A
  N/A
  Control
  No previous psychiatric history
 
  466467
  589713
  123247
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB917258_0067942645
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1839781
  1874616
  34836
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900225_900225
  N/A
  N/A
  Control
  No previous psychiatric history
 
  333454
  461781
  128328
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900932_900932
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1326031
  1480903
  154873
  GRCh38
  Duplication
  No
  itsara_10_ASD_discovery_controls_1-HI0762
  NA
  NA
  Unaffected
  NA
  NA
  1976816
  2126462
  149647
  GRCh38
  Duplication
  Yes
  kanduri_15_ASD_discovery_controls-control_split1135
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  1108730
  1590758
  482029
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split200
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  2245636
  2252924
  7289
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split2109
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  2245636
  2252924
  7289
  Unknown
  Homozygous deletion
  No
  kanduri_15_ASD_discovery_controls-control_split244
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  786238
  796131
  9894
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control12573.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1840738
  1875337
  34600
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14047.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1840738
  1875337
  34600
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14244.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  411746
  428865
  17120
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11398.s1
  NA
  M
  Control
  NA
  NA
  2684211
  2742581
  58371
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C38261A
  N/A
  F
  Control
  NIMH Control (NIMH ID 94269)
 
  1840739
  1875337
  34599
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C42672
  N/A
  M
  Control
  NIMH Control (NIMH ID 95177)
 
  1840739
  1875337
  34599
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  827040
  1183423
  356384
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11006.s1
  5.5
  M
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11043.s1
  11.5
  M
  Control (matched sibling)
  NA
  NA
  2138013
  2148329
  10317
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11049.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11064.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11089.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  2138013
  2143758
  5746
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11094.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11117.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11156.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11189.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11193.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11203.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11218.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11262.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11348.s1
  9.2
  F
  Control (matched sibling)
  NA
  NA
  2138013
  2148329
  10317
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11368.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11398.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  2688013
  2734711
  46699
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11400.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11466.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11495.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11530.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  2138013
  2148329
  10317
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11541.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  1843824
  1874616
  30793
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11545.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  2138013
  2148329
  10317
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11557.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  2138013
  2143758
  5746
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11580.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11590.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11592.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  2138013
  2148329
  10317
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  1085135
  1090261
  5127
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11766.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2149783
  13314
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11959.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11979.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12057.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12062.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  2138013
  2148329
  10317
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12152.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12154.s1
  9.1
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12573.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  1843824
  1864218
  20395
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12858.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  663292
  686965
  23674
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12951.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  2138013
  2143758
  5746
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13016.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13171.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  2136470
  2148329
  11860
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 ben-david_11_ASD_discovery_cases-proband26
 
 
 Unknown
 Unknown
 Unknown
 ERC1
 Monoallelic expression of ADARB2
 el_hayek_21_ASD/DD/ID_discovery_cases-caseKD-2-3
 CMA
 
 Both parents
 Multiplex
 Segregated
 KDM5A
 
 el_hayek_21_ASD/DD/ID_discovery_cases-caseKD-2-4
 CMA
 
 Both parents
 Multiplex
 Segregated
 KDM5A
 
 el_hayek_21_ASD/DD/ID_discovery_cases-caseKD-7-3
 
 
 Both parents
 Simplex
 
 CCDC77,KDM5A
 
 engchuan_15_ASD_discovery_cases-case1260_10
 
 
 Unknown
 
 
 LINC02455
 
 engchuan_15_ASD_discovery_cases-case1391_302
 
 
 Unknown
 
 
 B4GALNT3
 
 engchuan_15_ASD_discovery_cases-case14417_5260
 
 
 Unknown
 
 
 RNU7-103P,LINC02455,CCDC77,B4GALNT3,NINJ2
 
 engchuan_15_ASD_discovery_cases-case3193_3
 
 
 Unknown
 
 
 B4GALNT3
 
 engchuan_15_ASD_discovery_cases-case5061_3
 
 
 Unknown
 
 
 CACNA2D4
 
 engchuan_15_ASD_discovery_cases-case9610_201
 
 
 Unknown
 
 
 CACNA2D4
 
 girirajan_12_ASD/DD/ID_discovery_cases-case51237
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 HTR1DP1,LINC00942,MIR3649,RPS4XP14,WNT5B,FBXL14,ADIPOR2,CACNA2D4,ERC1
 
 girirajan_13a_ASD_discovery_cases-13008.p1
 
 
 Unknown
 Simplex
 Unknown
 RNU7-103P,SLC6A12,KDM5A,SLC6A13,CCDC77,B4GALNT3,NINJ2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000819
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HTR1DP1,LINC00942,WNK1,RAD52,WNT5B,FBXL14,ERC1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001936
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 CACNA1C-AS1,CACNA1C
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002027
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,SLC6A12,KDM5A,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,ERC1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002288
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SLC6A12,KDM5A,IQSEC3,SLC6A13
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002424
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC00940,CACNA1C-IT3,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,ERC1,CACNA1C
 
 krumm_15_ASD_discovery_cases-case12356.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 CACNA2D4
 
 krumm_15_ASD_discovery_cases-case13008.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SLC6A12,KDM5A,SLC6A13,CCDC77,B4GALNT3,NINJ2
 
 krumm_15_ASD_discovery_cases-case13085.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 CCDC77
 
 krumm_15_ASD_discovery_cases-case14047.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CACNA2D4
 
 krumm_15_ASD_discovery_cases-case14244.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CCDC77
 
 kushima_18_SCZ_discovery_cases-caseSCZ0607
 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
 Simplex
 Unknown
 LINC02371,CACNA1C-AS1,CACNA1C
 
 kushima_22_BPD_discovery_cases-caseBD0797
 qRT-PCR
 
 Unknown
 
 
 CACNA1C,ITFG2-AS1,CACNA1C-AS1
 
 kushima_22_SCZ_discovery_cases-caseSCZ0607
 qRT-PCR
 
 Unknown
 
 
 CACNA1C,ITFG2-AS1,CACNA1C-AS1,LINC02371
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case16
 
 
 Unknown
 
 
 CACNA1C-IT1,CACNA1C-IT2,LINC00940,CACNA2D4,DCP1B,CACNA1C
 
 lesca_12_EP_discovery_cases-case16-1514
 
 
 Paternal
 Unknown
 Unknown
 B4GALNT3
 
 levy_11_ASD_discovery_cases-11398.p1
 
 
 Paternal
 Simplex
 Not segregated
 LINC02371,CACNA1C-AS1,CACNA1C
 
 levy_11_ASD_discovery_cases-12356.p1
 
 
 Both parents
 Simplex
 Segregated
 CACNA2D4
 
 marshall_08_ASD_discovery_cases-SK0218-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 ADIPOR2,CACNA2D4,LRTM2
 
 napoli_17_ASD_discovery_cases-case34
 RT-PCR
 
 Unknown
 
 
 SLC6A12,KDM5A,SLC6A13
 
 nava_13_ASD_discovery_cases-Fam859Proband9985
 
 
 Paternal
 Simplex
 Unknown
 IQSEC3
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC41115
 FISH
 
 Unknown
 Unknown
 Unknown
 RNU4ATAC16P,HTR1DP1,WNK1,RAD52,ERC1
 
 o'roak_12_ASD_discovery_cases-case13008.p1
 aCGH, Sanger sequencing
 
 Maternal
 Simplex (quad)
 Unknown
 RNU7-103P,SLC6A12,KDM5A,SLC6A13,CCDC77,B4GALNT3,NINJ2
 
 oikonomakis_16_ASD_discovery_cases-case595
 
 
 Unknown
 
 
 RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,SLC6A12,KDM5A,LINC00940,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,ERC1,CACNA1C
 
 pinto_10_ASD_discovery_cases-case1260_10
 Illumina550
 
 paternal
 NA
 NA
 LINC02455
 
 pinto_10_ASD_discovery_cases-case1391_302
 Illumina550;Affy5.0
 
 paternal
 NA
 NA
 B4GALNT3
 
 pinto_10_ASD_discovery_cases-case5004_3
 qPCR, Illumina 1M-duo for sib
 
 maternal
 Multiplex
 Not segregated
 CACNA1C
 
 pinto_10_ASD_discovery_cases-case5061_3
 Agilent1M
 
 paternal
 Multiplex
 NA
 CACNA2D4
 
 pinto_10_ASD_discovery_cases-case5065_3
 qPCR
 
 paternal
 Multiplex
 Unknown
 CACNA1C
 
 pinto_10_ASD_discovery_cases-case5106_3
 qPCR
 
 maternal
 Multiplex
 Segregated
 CACNA1C
 
 pinto_10_ASD_discovery_cases-case5136_4
 qPCR
 
 paternal
 Multiplex
 Unknown
 CACNA1C
 
 pinto_10_ASD_discovery_cases-case5269_3
 qPCR, Illumina 1M-duo for sib
 
 paternal
 Simplex
 NA
 CACNA1C
 
 poultney_13_ASD_discovery_cases-case05HI3719A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CACNA2D4
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 WNK1,RAD52,ERC1
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CCDC77
 
 poultney_13_ASD_discovery_cases-case99HI1144B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 KDM5A,SLC6A13,CCDC77
 
 poultney_13_ASD_discovery_cases-case99HI1144B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HTR1DP1,WNK1,RAD52,ERC1
 
 prasad_12_ASD_discovery_cases-case100149
 
 
 Unknown
 Unknown
 Unknown
 B4GALNT3
 
 prasad_12_ASD_discovery_cases-case143560
 
 
 Unknown
 Unknown
 Unknown
 B4GALNT3
 
 prasad_12_ASD_discovery_cases-case157926
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case168866
 
 
 Unknown
 Unknown
 Unknown
 ERC1
 
 prasad_12_ASD_discovery_cases-case44644
 
 
 Unknown
 Multiplex
 Unknown
 CACNA2D4
 
 prasad_12_ASD_discovery_cases-case63206
 
 
 Unknown
 Unknown
 Unknown
 B4GALNT3
 
 prasad_12_ASD_discovery_cases-case75456
 
 
 Unknown
 Unknown
 Unknown
 LRTM2,CACNA2D4
 
 prasad_12_ASD_discovery_cases-case85177L
 
 
 Unknown
 Unknown
 Unknown
 ADIPOR2
 
 prasad_12_ASD_discovery_cases-case90412
 
 
 Unknown
 Unknown
 Unknown
 ERC1
 
 quintela_17_DD/ID_discovery_cases-caseID_45
 
 
 Unknown
 
 Unknown
 CACNA1C-IT3,CACNA1C
 
 roberts_13_ASD/DD/ID_discovery_cases-ASDcase6
 BACs aCGH or FISH
 
 De novo
 Unknown
 Unknown
 CACNA1C-AS3,CACNA1C
 
 rosenfeld_10_ASD_discovery_cases-case2074
 FISH
 
 Maternal
 Unknown
 Unknown
 IQSEC3,SLC6A12,SLC6A13,KDM5A,CCDC77,B4GALNT3,NINJ2
 
 sanders_11_ASD_discovery_cases-11004.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11059.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11069.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11089.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11117.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11156.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11165.p1
 
 
 Maternal
 Simplex (trio)
 NA
 HTR1DP1,ERC1
 
 sanders_11_ASD_discovery_cases-11168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11193.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11203.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11218.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11258.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11262.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11276.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11323.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11325.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11368.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11395.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11397.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11398.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11464.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11495.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ERC1
 
 sanders_11_ASD_discovery_cases-11508.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11545.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11561.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11709.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CACNA2D4,LRTM2
 
 sanders_11_ASD_discovery_cases-11712.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 IQSEC3
 
 sanders_11_ASD_discovery_cases-11753.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11766.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11806.p1
 
 
 Unknown
 Simplex (trio)
 NA
 IQSEC3
 
 sanders_11_ASD_discovery_cases-11811.p1
 
 
 Paternal
 Simplex (trio)
 NA
 IQSEC3
 
 sanders_11_ASD_discovery_cases-11827.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11828.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11881.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11920.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-11984.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12062.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12091.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12120.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C-AS1,CACNA1C
 
 sanders_11_ASD_discovery_cases-12170.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12180.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12194.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12208.p1
 
 
 Both parents
 Simplex (trio)
 NA
 ERC1
 
 sanders_11_ASD_discovery_cases-12224.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12241.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12265.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ERC1
 
 sanders_11_ASD_discovery_cases-12356.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CACNA2D4
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12445.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12447.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12492.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12592.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12607.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12626.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12674.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-12948.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CACNA1C
 
 sanders_11_ASD_discovery_cases-13016.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Paternal
 Simplex (trio)
 NA
 WNT5B,FBXL14
 
 sanders_11_ASD_discovery_cases-13085.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CCDC77
 
 sanders_11_ASD_discovery_cases-13088.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA1C
 
 sanders_11_ASD_discovery_cases-13192.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 CACNA1C
 
 sandoval_talamantes_23_ASD_discovery_cases-caseAUT152
 
 
 Maternal
 
 
 CCDC77,B4GALNT3,KDM5A,SLC6A12,SLC6A13
 
 shen_10_ASD_discovery_cases-ASD-09-052
 
 
 Unknown
 NA
 NA
 CACNA2D4
 
 silva_14_ASD_discovery_cases-case1
 FISH
 
 Unknown (not maternal)
 Simplex
 Unknown
 RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,SLC6A12,KDM5A,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ERC1
 
 stamouli_18_ASD/NDD_discovery_cases-family64_Twin_1
 
 
 Unknown
 Multiplex
 Segregated (CNV present in both affected twins)
 KDM5A,CCDC77,B4GALNT3
 
 stamouli_18_ASD/NDD_discovery_cases-family64_Twin_2
 
 
 Unknown
 Multiplex
 Segregated (CNV present in both affected twins)
 KDM5A,CCDC77,B4GALNT3
 
 thevenon_12_CAS/DVD_discovery_cases-patient3
 FISH
 Paternal
 Paternal
 Simplex
 Segregated
 RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,SLC6A12,KDM5A,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,ERC1
 
 thevenon_12_CAS/DVD_discovery_cases-patient4
 qPCR or FISH
 Paternal
 Paternal
 Unknown
 Unknown
 RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,SLC6A12,KDM5A,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,ERC1
 
 thevenon_12_CAS/DVD_discovery_cases-patient5
 qPCR or FISH
 Unknown
 Unknown
 Unknown
 Unknown
 RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,SLC6A12,KDM5A,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,ERC1
 
 thevenon_12_CAS/DVD_discovery_cases-patient6
 FISH
 
 De novo
 Simplex
 Possibly segregated
 Estimated gene content: KDM5A,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,ERC1,FBXL14,WNT5B,ADIPOR2,CACNA2D4,LRTM2,DCP1B,CACNA1C,FKBP4,ITFG2,NRIP2,FOXM1,C12orf32,TULP3,TEAD4,TSPAN9, PRMT8
 
 thevenon_12_CAS/DVD_discovery_cases-patient7
 FISH
 
 De novo
 Simplex
 Possibly segregated
 HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,RNU6-1315P,TSPAN9-IT1,LINC02417,RNU6-174P,OTUD4P1,LINC00940,CACNA1C-IT3,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,ITFG2-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,RHNO1,TULP3,TEAD4,PRMT8,CRACR2A,PARP11,ERC1,CACNA1C,TSPAN9
 
 thevenon_12_CAS/DVD_discovery_cases-patient8
 FISH
 
 De novo
 Simplex
 Possibly segregated
 RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,SLC6A12,KDM5A,LINC00940,CACNA1C-IT3,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,ERC1,CACNA1C
 
 walker_13_ASD_discovery_cases-case2-1175-003
 
 
 Unknown
 Simplex
 Unknown
 B4GALNT3
 
 werling_19_ASD_discovery_cases-caseA17W
 
 
 Unknown
 
 
 LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,ITFG2-AS1,CACNA1C
 
 wu_24_ASD/ADHD/DD/ID_discovery_cases-case45
 CMA
 
 De novo
 Simplex
 
 CACNA1C,ADIPOR2,WNK1,WNT5B,CCDC77,CACNA2D4,FBXL14,DCP1B,B4GALNT3,IQSEC3,LRTM2,NINJ2-AS1,RPS4XP14,NINJ2,LINC00940,LINC00942,HTR1DP1,MIR3649,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA1C-AS2,KDM5A,RAD52,SLC6A12-AS1,LINC02455,CACNA1C-AS3,SLC6A12,SLC6A13,RNU4ATAC16P,RNU7-103P,CACNA1C-IT1,ERC1
 
 xu_16_ASD/DD/ID_discovery_cases-case39
 
 
 Maternal
 
 
 RNU4ATAC16P,WNK1
 
 yin_16_ASD_discovery_cases-case424
 
 
 Unknown
 Unknown
 Unknown
 IQSEC3
 
 yin_16_ASD_discovery_cases-case425
 
 
 Unknown
 Unknown
 Unknown
 B4GALNT3
 
 yin_16_ASD_discovery_cases-case426
 
 
 Unknown
 Unknown
 Unknown
 RPS4XP14,ADIPOR2
 
 yin_16_ASD_discovery_cases-case427
 
 
 Unknown
 Unknown
 Unknown
 RPS4XP14,ADIPOR2
 
 yuen_17_ASD_discovery_cases-caseAU3263301
 Not available
 
 Paternal
 Multiplex
 Not segregated
 LINC02371,CACNA1C-AS1,CACNA1C
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case9-0026-003
 RT-qPCR or WGS
 
 Paternal
 
 
 LINC02371,CACNA1C-AS1,ITFG2-AS1,CACNA1C
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC03482
  PCR or SNP data validation
 
  Maternal
 
 
  CACNA1C
 
engchuan_15_ASD_discovery_controls-controlB178717_1007875826
 
 
  Unknown
 
 
  CACNA1C
 
engchuan_15_ASD_discovery_controls-controlB252606_1007874475
 
 
  Unknown
 
 
  ERC1
 
engchuan_15_ASD_discovery_controls-controlB252606_1007874475
 
 
  Unknown
 
 
  CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC00940,CACNA1C-IT3,CACNA2D4,DCP1B,CACNA1C
 
engchuan_15_ASD_discovery_controls-controlB401883_1007874319
 
 
  Unknown
 
 
  RNU7-103P,LINC02455,RNU4ATAC16P,CCDC77,B4GALNT3,NINJ2,WNK1
 
engchuan_15_ASD_discovery_controls-controlB529705_1007840923
 
 
  Unknown
 
 
  CACNA1C
 
engchuan_15_ASD_discovery_controls-controlB630497_1007872229
 
 
  Unknown
 
 
  CACNA1C
 
engchuan_15_ASD_discovery_controls-controlB709920_1007843547
 
 
  Unknown
 
 
  RNU7-103P,B4GALNT3,NINJ2
 
engchuan_15_ASD_discovery_controls-controlB917258_0067942645
 
 
  Unknown
 
 
  CACNA2D4
 
engchuan_15_ASD_discovery_controls-controlHABC_900225_900225
 
 
  Unknown
 
 
  KDM5A,CCDC77,B4GALNT3
 
engchuan_15_ASD_discovery_controls-controlHABC_900932_900932
 
 
  Unknown
 
 
  ERC1
 
itsara_10_ASD_discovery_controls_1-HI0762
  aCGH (custom NimbleGen 12 X 135)
 
  De novo
  Multiplex
 
  CACNA1C-IT1,CACNA1C-IT2,DCP1B,CACNA1C
 
kanduri_15_ASD_discovery_controls-control_split1135
 
 
  Unknown
 
 
  ERC1
 
kanduri_15_ASD_discovery_controls-control_split200
 
 
  Unknown
 
 
  CACNA1C (intronic)
 
kanduri_15_ASD_discovery_controls-control_split2109
 
 
  Unknown
 
 
  CACNA1C (intronic)
 
kanduri_15_ASD_discovery_controls-control_split244
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, NINJ2(dist=13483),WNK1(dist=65958)
 
krumm_15_ASD_discovery_controls-control12573.s1
  Illumina 1MDuo
 
  Paternal
 
 
  CACNA2D4
 
krumm_15_ASD_discovery_controls-control14047.s1
  Omni2.5-4v1
 
  Paternal
 
 
  CACNA2D4
 
krumm_15_ASD_discovery_controls-control14244.s1
  Omni2.5-4v1
 
  Paternal
 
 
  CCDC77
 
levy_11_ASD_discovery_controls-11398.s1
 
 
  Paternal
  Simplex
  NA
  LINC02371,CACNA1C-AS1,CACNA1C
 
poultney_13_ASD_discovery_controls-control04C38261A
 
 
  Unknown
 
 
  CACNA2D4
 
poultney_13_ASD_discovery_controls-control05C42672
 
 
  Unknown
 
 
  CACNA2D4
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  HTR1DP1,WNK1,RAD52,ERC1
 
sanders_11_ASD_discovery_controls-11006.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11043.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11049.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11064.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11089.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11094.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11117.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11156.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11189.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11193.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11203.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11218.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11262.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11348.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11368.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11398.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C-AS1,CACNA1C
 
sanders_11_ASD_discovery_controls-11400.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11466.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11495.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11530.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11541.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA2D4
 
sanders_11_ASD_discovery_controls-11545.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11557.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11580.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11590.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11592.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ERC1
 
sanders_11_ASD_discovery_controls-11766.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11959.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-11979.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-12057.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-12062.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-12152.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-12154.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-12573.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA2D4
 
sanders_11_ASD_discovery_controls-12858.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC02455,NINJ2
 
sanders_11_ASD_discovery_controls-12951.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-13016.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 
sanders_11_ASD_discovery_controls-13171.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CACNA1C
 

No Animal Model Data Available
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