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17q21.31CNV Type: Duplication


Largest CNV size: 573035 bp

Statistics Box:
Number of Reports: 52


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
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
High rate of disease-related copy number variations in childhood onset schizophrenia.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
NA
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion
NA
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Contribution of SHANK3 mutations to autism spectrum disorder.
Deletion
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion-Duplication
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion-Duplication
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
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
NA
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
NA
Deletion
Diagnostic yield of patients with undiagnosed intellectual disability
Deletion
NA
Deletion
NA
Deletion
NA
Deletion
NA
Deletion
NA
Deletion
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ahmad_23_ASD/ADHD/DD_discovery_cases
  NA NA
 Affected individuals with 6q26 CNVs affecting the PRKN gene assessed by the University of Rochester Medical Center (Rochester, NY, USA) between 2008 and 2011.
 8
 Five of the eight affected individuals presented with developmental delay; additional phenotypes observed in this cohort were seizures (n=2), autism spectrum disorder (n=1), and ADHD (n=1).
 Range, 1 day-28 yrs.
 37.5% Male
 506185
 0
 1
 1
 ahn_13_SCZ_discovery_cases
 Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
 126
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
 N/A
 N/A
 384000
 0
 1
 1
 akkus_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
 1227
 Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
 
 57.13% Male
 675144
 1
 0
 1
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
 Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
 584
 Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
 N/A
 N/A
 505061
 1
 0
 1
 asadollahi_14_NDD_discovery_cases
 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
 714
 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
 N/A
 N/A
 473000
 2
 0
 2
 bacchelli_20_ASD_discovery_cases
  NA NA
 Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
 128
 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
 N/A
 82.81% Male
 2136
 1
 0
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 168966
 2
 0
 2
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 71025
 0
 1
 1
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 637509
 2
 0
 2
 chaves_24_ASD/DD/ID_discovery_cases
  NA NA
 CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
 1012
 83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
 Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
 60.77% Male
 504667
 1
 0
 1
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 350648
 1
 0
 1
 cucinotta_23_ASD_discovery_cases
  NA NA
 Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
 329
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 NA
 84.19% Male
 125257
 1
 0
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 408555
 3
 6
 9
 davis_12_ASD_discovery_cases
 Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
 1
 Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
 12 yrs.
 Male
 138596
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 442160
 1
 0
 1
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 177413
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 60219
 0
 2
 2
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 69879
 0
 1
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 11549
 1
 0
 1
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 175614
 4
 0
 4
 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
 
 
 460000
 42
 5
 47
 grisart_09_DD/ID/ASD/ADHD_discovery_cases
 Patients with 17q21.31 microduplications identified by screening of a large cohort of patients (n=13070) with intellectual disability and congenital malformation
 4
 All four cases with developmental delay/intellectual disability, behavioral problems and poor social interaction; one case with clinical diagnosis of Asperger syndrome, depression and ADHD.
 Range, 6-18 yrs.
 50% Male
 627276
 0
 4
 4
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 174845
 0
 3
 3
 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
 1191499
 22
 1
 23
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 412337
 0
 5
 5
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 229651
 2
 6
 8
 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
 74464
 0
 1
 1
 laurie_25_ASD/DD/ID_discovery_cases
 Individuals with previously undiagnosed rare diseases from 6,004 families from the Solve-Rare Diseases Consortium (Solve-RD) resource for whom systemic reanalysis of exome or genome sequencing data was performed and phenotypic information was annotated using the Human Phenotype Ontology.
 6447
 "Individuals with autism or autistic features as defined by one or more of the following HPO terms: ""Autism"", ""Autistic behavior"", ""Stereotypy"", or ""Recurrent hand flapping""."
 
 55.71% Male
 523808
 1
 0
 1
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 188953
 0
 1
 1
 leite_22_DD/ID_discovery_cases
 Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
 369
 Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
 93.2% of cases under 18 yrs.
 47.4% Male
 563756
 2
 0
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 481645
 1
 1
 2
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 117334
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 18000
 1
 0
 1
 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
 
 
 573035
 2
 0
 2
 mazzonetto_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
 1363
 "95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
 
 63.17% Male
 500000
 1
 0
 1
 mccormack_14_DD_discovery_cases
 First-born girl of nonconsanguineous Iraqi and Afghani parents evaluated in Auckland, New Zealand
 1
 Developmental delay, microcephaly, and mild autistic traits
 7.5 yrs.
 Female
 647000
 0
 1
 1
 miclea_22_DD/ID_discovery_cases
  NA NA
 Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
 189
 Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
 Range, 1-18 yrs.
 51.85% Male
 13180
 1
 0
 1
 moessner_07_ASD_discovery_cases
 Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
 400
 ASD
 
 
 534000
 1
 0
 1
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 216000
 2
 3
 5
 munnich_19_ASD_discovery_cases
 Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
 502
 Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
 < 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
 69.92% Male
 500000
 1
 0
 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
 263700
 6
 0
 6
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 60220
 0
 2
 2
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 17632
 1
 1
 2
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 152384
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 499361
 1
 0
 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
 63477
 8
 2
 10
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 779000
 1
 0
 1
 shen_10b_ASD_discovery_cases
 Father and son from a three-generation Chinese family with ASD and language delay.
 2
 Diagnosis of ASD based upon DSM-IV criteria.
 Range, 12-41 yrs.
 100% Male
 129350
 2
 0
 2
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 800000
 4
 0
 4
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 40823
 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
 62351
 1
 0
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 1359599
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ahn_13_SCZ_discovery_controls
 Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
 98
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 0
 0
 0
 0
 brandler_18_ASD_replication_controls
 Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
 584
 Control (unaffected siblings from simplex quad families)
 N/A
 N/A
 4208
 1
 0
 1
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 0
 0
 0
 0
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 175614
 0
 0
 0
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 460000
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 589236
 0
 0
 0
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 221144
 0
 6
 6
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 9197
 2
 0
 2
 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
 49108
 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
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 65487
 0
 1
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 0
 0
 0
 0
 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)
 152384
 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.
 
 50302
 6
 1
 7
 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
 62351
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 ahmad_23_ASD/ADHD/DD_discovery_cases
  United States
 aCGH
  Agilent 4x44K v2.0
 NA
 BlueFuse Multi v.2.5
 FISH
 ahn_13_SCZ_discovery_cases
  N/A
 Solid phase hybridization
  Illumina Human or HumanOmni Beadchips
 PennCNV, QuantiSNP, GNOSIS
 Illumina GenomeStudio, CNVision, Nexus copy number
 Validation based on familial presence of CNV
 akkus_24_ASD/DD/ID_discovery_cases
  Turkey
 Array SNP
  Affymetrix CytoScan Optima
 
 ThermoFisher ChAS v.3.1.
 
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
  Saudi Arabia
 Array SNP
  Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
 HMM
 Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
 None
 asadollahi_14_NDD_discovery_cases
  Predominantly European
 Array SNP
  Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
 HMM
 Affymetrix ChAS v.1.0.1
 MLPA
 bacchelli_20_ASD_discovery_cases
  Italian
 Solid phase hybridization
  Illumina Infinium PsychArray
 PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 aCGH (Agilent 4x180K or 8x60K)
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 chaves_24_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 cucinotta_23_ASD_discovery_cases
  Italy
 aCGH
  Agilent SurePrint 4180K
 ADM-2
 Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 davis_12_ASD_discovery_cases
  NA
 Solid phase hybridization
  Illumina Human 1M-Duo DNA Analysis Bead Chip
 PennCNV, QuantiSNP, Gnosis
 CNVision
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 grisart_09_DD/ID/ASD/ADHD_discovery_cases
  N/A
 aCGH, array SNP
  Agilent 44K, BACs aCGH, Signature Genomics BAC/PAC array, Affymetrix 250K Nsp
 
 
 qPCR, FISH
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 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
 laurie_25_ASD/DD/ID_discovery_cases
  European
 Exome sequencing, genome sequencing
 
 
 ClinCNV, Conifer, ExomeDepth
 
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 None
 leite_22_DD/ID_discovery_cases
  Brazil
 CMA
  Thermofisher GeneChip CytoScanHD
 NA
 ThermoFisher ChAS v.3.0
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 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
 mazzonetto_24_ASD/DD/ID_discovery_cases
  Brazil
 Low-pass WGS
  Illumina NovaSeq 6000
 SNP-FASST2 (HMM)
 BioDiscovery NxClinical
 
 mccormack_14_DD_discovery_cases
  Iraqi/Afghani
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.1.2.2
 None
 miclea_22_DD/ID_discovery_cases
  Romania
 Solid phase hybridization
  Illumina Infinium OmniExpress-24 BeadChip
 NA
 Illumina GenomeStudio v.2.0.
 None
 moessner_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 500K
 
 
 
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 munnich_19_ASD_discovery_cases
  France
 aCGH, karyotyping
  Agilent 60K
 
 
 FISH
 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
 
 qPCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 shen_10b_ASD_discovery_cases
  Chinese
 aCGH
  Agilent 244K
 
 DNA Analytics
 
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 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)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  ahn_13_SCZ_discovery_controls
  N/A
  Solid phase hybridization
  Illumina Human or HumanOmni Beadchips
  PennCNV, QuantiSNP, GNOSIS
  Illumina GenomeStudio, CNVision, Nexus copy number
 
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  brandler_18_ASD_replication_controls
  N/A
  WGS
  Illumina HiSeq X10
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  None
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  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_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
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  ahmad_23_ASD/ADHD/DD_discovery_cases-case1
  NA NA
 9 yrs.
 F
 Developmental delay and seizures
 Developmental delay, seizures, dysmorphic features, encephalopathy
 
 46110874
 46617058
  506185
 GRCh38
 Duplication
 Yes
  ahn_13_SCZ_discovery_cases-NSB_ID1546
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 45888460
 46272927
  384468
 GRCh38
 Duplication
 Yes
  akkus_24_ASD/DD/ID_discovery_cases-case77A
  NA NA
 2 yrs.
 F
 Epilepsy
 Microcephaly, strabismus, epilepsy, bicuspid aorta.
 
 45459801
 46134944
  675144
 GRCh38
 Deletion
 No
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2019
 N/A
 N/A
 Developmental delay
 Developmental delay, failure to thrive, dysmorphic features, cleft palate, ventricular septal defect, and mild camptodactyly (17q21.31 microdeletion syndrome). Consanguineous parents.
 Developmental delay
 45625886
 46130946
  505061
 GRCh38
 Deletion
 No
  asadollahi_14_NDD_discovery_cases-case52253
 5 yrs.
 M
 Developmental delay
 Developmental delay, marked hypotonia, agenesis of corpus callosum, facial dysmorphic features
 
 45616171
 46088904
  472734
 GRCh38
 Deletion
 Yes
  asadollahi_14_NDD_discovery_cases-case71264
 2 yrs.
 M
 Developmental delay
 Developmental delay, hypotonia, mild facial dysmorphic features, stridor
 
 45626434
 46085719
  459286
 GRCh38
 Deletion
 Yes
  bacchelli_20_ASD_discovery_cases-caseAB56
  NA NA
 N/A
 M
 ASD and intellectual disability
 ASD on ADOS and ADI-R; absence of expressive language; one febrile seizure at age 2 years; normal EEG brain MRI; obesity
 Intellectual disability
 44320372
 44322507
  2136
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-caseAU4463303
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 44144883
 44313848
  168966
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseSSC11745
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 45050126
 45054333
  4208
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11406
 NA
 M
 ASD
 NA
 NA
 46325667
 46396692
  71026
 GRCh38
 Duplication
 Yes
  chaves_19_ASD/DD/ID_discovery_cases-case216
  NA NA
 N/A
 F
 Developmental delay
 Low weight, short stature, fanconi anemia, developmental delay, speech and/or language delay or impairment and facial dysmorphism
 
 45626435
 46135050
  508616
 GRCh38
 Deletion
 No
  chaves_19_ASD/DD/ID_discovery_cases-case81
  NA NA
 N/A
 M
 Speech delay
 Speech and/or language delay or impairment, convulsions and facial dysmorphism
 
 45497541
 46135049
  637509
 GRCh38
 Deletion
 No
  chaves_24_ASD/DD/ID_discovery_cases-case960
  NA NA
 
 F
 Developmental delay and intellectual disability
 Developmental delay, dyslalia, global hypotonia, no sphincter control
 Intellectual disability, specific learning disability
 45632784
 46137450
  504667
 GRCh38
 Deletion
 No
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 46323689
 46674922
  351234
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case108
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 46094521
 46219777
  125257
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU002105
 NA
 NA
 Non-syndromic ASD
 Diagnosis: NQA/Autism on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 41560151
 41711411
  151260
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU017704
 NA
 NA
 Non-syndromic ASD
 Diagnosis: Autism/Not spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 41522422
 41711411
  188989
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU019705
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 41587103
 41719833
  132730
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU026803
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 40872185
 41022689
  150504
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU033403
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: micropthalmia
 
 41474846
 41719833
  244987
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU057905
 NA
 NA
 Non-syndromic ASD
 Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 41575332
 41711411
  136079
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU059003
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: syndactyly
 
 41311278
 41719833
  408555
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU059004
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: syndactyly
 
 41311278
 41719833
  408555
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU1376302
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: iris coloboma
 
 41623640
 41719833
  96193
 Unknown
 Duplication
 No
  davis_12_ASD_discovery_cases-case1
 12 yrs.
 M
 Autism
 Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
 Vineland adaptive behavior scale, 98 (45th %ile).
 46342566
 46481604
  139039
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300602
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 45640337
 46082496
  442160
 GRCh38
 Deletion
 Yes
  egger_14_ASD_discovery_cases-caseA44
 N/A
 N/A
 ASD
 CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 
 44145700
 44323112
  177413
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case5218_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43676421
 43736640
  60220
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5413_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 44000392
 44032667
  32276
 GRCh38
 Duplication
 No
  feliciano_19_ASD_discovery_cases-caseSP0001598
 N/A
 F
 ASD
 Family history: both parents are negative for ASD and have no reported mental health diagnoses.
 
 44308833
 44378711
  69879
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259863
 N/A
 M
 Developmental delay
 Abnormality of the epiphyses of the distal phalanx of finger; Hypoplasia of right ventricle; Abnormality of the cardiovascular system; Defect in the atrial septum; Global developmental delay; Strabismus; Microcephaly
 
 44843532
 44855081
  11550
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si167
 15
 M
 Autism
 ADOS score: 8. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 128; Non-verbal IQ, 118.
 46083817
 46259473
  175657
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si183
 13
 M
 Autism
 ADOS score: 7. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
 46083817
 46259473
  175657
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si323
 15
 M
 Autism
 ADOS score: 10. Vineland composite score: 56.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
 45197158
 45266968
  69811
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si7
 17
 M
 Autism
 ADOS score: NA. Vineland composite score: 67.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 73.
 46067544
 46215483
  147940
 GRCh38
 Deletion
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case1488
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1489
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1490
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1491
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1492
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1493
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1494
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1495
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1496
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1497
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1498
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1499
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1500
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1501
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1502
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1503
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1504
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1505
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1506
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1507
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1508
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1509
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1510
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1511
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1512
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1513
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1514
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1515
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1516
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1517
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1518
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1519
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1520
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1521
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1522
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1523
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1524
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1525
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1526
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1527
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1528
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1529
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1530
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1531
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1532
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1533
 NA
 NA
 Developmental delay
 NA
 NA
 45626851
 46086816
  459966
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case43248
 21 yrs.
 F
 Developmental delay
 Slightly low tone. Dysmorphic features: small mouth, low-set ears, low posterior hairline, cranium smaller fir size. Congenital anomalies: leg length discrepancy, PIP finger contractures, 2-3 toe syndactyly, scoliosis. Other features: psoriatic arthritis. Growth parameters: weight >97th %ile, height 3rd-10th %ile, OFC -1.9 SD. Family history: not specified.
 Global developmental delays; mild ID
 45626851
 46086816
  459966
 GRCh38
 Duplication
 Yes
  grisart_09_DD/ID/ASD/ADHD_discovery_cases-case1
 6 yrs.
 F
 Developmental delay/intellectual disability
 Case present in DECIPHER database (ID number LEM249002). Birth/neonatal history: pregnancy complicated by placental detachment; born at term; birth weight of 3.570 kg (50th %ile). Developmental milestones: walking at 12 months of age but with tendency for tiptoe-walking resulting in tendinous retraction; normal language onset. Language and communication evaluation: limited verbal skills (difficulties in sentence formation and pronunciation). Motor and musculoskeletal evaluation: developmental quotient of 91 for fine mobility and 73 for global mobility; poor motor skills, tiptoe-walking; 5th finger clinodactyly, single palmar crease on right hand, partial bilateral syndactyly of 2nd and 3rd and 3rd and 4th toes. Behavioral/psychiatric evaluation: hyperactivity, poor social interaction. Dysmorphic features: mild microcephaly, synophrys, puffy eyelids, thin upper lip, dysplastic ears, upturned nose, short philtrum, prominent incisors, retrognathia, slight hirsutism on the back. Growth parameters: microcephaly (head circumference of 49 cm, -2 SD); height of 126 cm (90th %ile), weight of 23.3 kg (50th %ile). Family history: first child of unrelated parents.
 Mild psychomotor retardation; IQ score of 105 (WPPSI-R), verbal IQ of 108, performance IQ of 100.
 41073486 (approximate start)
 41700762 (approximate end)
  627276
 NCBI36
 Duplication
 Yes
  grisart_09_DD/ID/ASD/ADHD_discovery_cases-case2
 11 yrs.
 F
 Developmental delay/intellectual disability
 Case present in DECIPHER database (ID number CAM249012). Birth/neonatal history: normal pregnancy; born at term; birth weight of 3.500 kg (50th %ile), birth length of 53 cm (90th %ile), birth OFC of 34.2 cm (25th-50th %ile); meconium aspiration occurred during delivery which resulted in no apparent sequelae. Developmental milestones: normal feeding and early milestones; walking at 24 months of age. Language and communication evaluation: normal verbal and vocabulary skills; poor non-verbal communication. Motor and musculoskeletal evaluation: poor fine motor skills, hypotonia, tapering fingers. Behavioral/psychiatric evaluation: passivity, obsessive behavior, poor social interaction, aggressiveness. Dysmorphic features: bushy eyebrows, epicanthal folds, large posteriorly rotated and dysplastic ears, short upturned nose, short philtrum, flat midface, high arched palate, prominent upper incisors, low posterior hairline, thick hair. Growth parameters: truncal obesity; height 91st %ile, weight 91st %ile, head circumference 50th-75th %ile. Family history: only child of unrelated parents.
 Mild psychomotor retardation; IQ score of 78 (WPPSI-R); normal reasoning and conprehension but difficulty following instructional language; poor spatial awareness.
 41134385 (approximate start)
 41719833 (approximate end)
  585448
 NCBI36
 Duplication
 Yes
  grisart_09_DD/ID/ASD/ADHD_discovery_cases-case3
 7 yrs. 4 mos.
 M
 Developmental delay/intellectual disability
 Case present in DECIPHER database (ID number CHG249083). Birth/neonatal history: normal pregnancy and delivery; born at term; birth weight of 2.890 g (3rd %ile; -2 SD), birth length of 50 cm (50th %ile), birth OFC of 34 cm (10th %ile); bilateral inguinal herniorraphy between ages of 10-12 months; orchidectomy due to torsion. Developmental milestones: normal early milestones; walking at 14-16 months of age, first words at 12-14 months. Language and communication evaluation: poor verbal skills, speech therapy at age of 3.5 years; poor visuomotor interaction and word finding capacities. Motor and musculoskeletal evaluation: tiptoe-walking; normal symmetrical reflexes, shortened gastrocnemius muscles (right more than left). Behavioral/psychiatric evaluation: poor social interaction, anxiety. Dysmorphic features: brachycephaly, open square facies, pointed chin, congenital hypopigmented 3x3 cm mark on left flank. Growth parameters: height of 127 cm (50th %ile), weight of 25.3 kg (50th %ile), and head circumference of 50.7 cm (10th %ile). Family history: second child of non-consanguineous parents; healthy sister.
 Mild psychomotor retardation; IQ score of 81 (WPPSI-R) at age of 4 years 9 months (verbal IQ of 80, performance IQ of 87), poor auditory memory.
 41103988 (approximate start)
 41722683 (approximate end)
  618695
 NCBI36
 Duplication
 Yes
  grisart_09_DD/ID/ASD/ADHD_discovery_cases-case4
 18 yrs.
 M
 ASD and ADHD
 Case present in DECIPHER database (ID number LEM249014). Diagnosis of Asperger syndrome made by clinical psychologist at age of 11 years; additional diagnoses of depression and ADHD for which case receives long-term medication. Birth/neonatal history: normal pregnancy; born at term by C-section; birth weight of 5.100 g (>97th %ile; +3 SD), birth length of 58 cm (>97th %ile; +3 SD); mild hypotonia and nasal congestion, normal feeding; inguinal hernia repaired at 6 months. Developmental milestones: delay in all major developmental milestones; significantly delayed speech; walking at 27 months of age. Language and communication evaluation: normal verbal skills. Motor and musculoskeletal evaluation: normal motor skills, hypotonia; mild pectus excavatum, 5th finger clinodactyly, 2-3 syndactyly on feet, sandal gap. Behavioral/psychiatric evaluation: hyperactivity, poor social interaction, poor eye contact, aggressiveness. Other features: delayed puberty, LH/FSH and testosterone levels all reported as low. Dysmorphic features: thin arched eyebrows, deep-set eyes, down-slanting palpebral fissures, dysplastic ears (simple and elongated, > +2 SD), flat midface, mild molar hypoplasia, hypogonadism. Growth parameters: height 10th-25th %ile, weight <3rd %ile, and head circumference 10th-25th %ile at age of 18 years. Family history: second child of unrelated healthy parents (parental DNA not available for testing).
 Mild psychomotor retardation; IQ score not determined; required educational support in all subjects, formal IQ in low-normal range.
 41288423 (approximate start)
 41528254 (approximate end)
  239831
 NCBI36
 Duplication
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case28
 2 yrs. 2 mos.
 M
 Intellectual disability
 Microcephaly, seizures, hypertelorism, single transverse palmar crease, syndactyly, congenital heart defect, Hirschsprung disease
 Intellectual disability, severe developmental and cognitive delay
 43481829
 43656453
  174625
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case45
 6 yrs.
 M
 Autism
 Autism, severe speech delay, neuromuscular disorder. Karyotype: 14cenh+ps+.
 Severe cognitive delay
 43481817
 43656662
  174846
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case47
 1 yr.
 M
 Developmental delay
 Speech delay, congenital heart defect, congenital lung malformation, syndactyly, esophageal atresia, cleft palate
 Developmental delay
 43481817
 43656656
  174840
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000796
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45578381
 46273786
  695406
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000938
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45629520
 46061206
  431687
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000949
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45578381
 46111134
  532754
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001128
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45629520
 46111134
  481615
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001649
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45616241
 46136454
  520214
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001663
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45637714
 46118962
  481249
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001740
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 44906235
 45220406
  314172
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001809
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45575861
 46274278
  698418
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002043
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45629520
 46051878
  422359
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002317
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 44928498
 45299730
  371233
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002516
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45629520
 46098805
  469286
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002675
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45598042
 46273786
  675745
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002683
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45674308
 46273786
  599479
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002772
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45598042
 46273786
  675745
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003930
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45640337
 46273786
  633450
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004089
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45578381
 46111134
  532754
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004581
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45640337
 46273786
  633450
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004606
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 43570878
 44762377
  1191500
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004710
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45578381
 46273786
  695406
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004741
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45578381
 46111134
  532754
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004870
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45629320
 46380792
  751473
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005005
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45578381
 46273786
  695406
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005431
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45629520
 46098805
  469286
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case1869
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 44177103
 44189067
  11965
 Unknown
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case1939
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 44169808
 44247164
  77357
 Unknown
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case1958
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 44169808
 44247164
  77357
 Unknown
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case3051
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 41598940
 41771591
  172652
 Unknown
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case3051
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 42892795
 43305131
  412337
 Unknown
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11156.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 43002871
 43014299
  11429
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11982.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 46710962
 46940613
  229652
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12050.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 43067607
 43074521
  6915
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12547.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 43006947
 43017930
  10984
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12701.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 42879281
 42911426
  32146
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13424.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 44316384
 44321767
  5384
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13701.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 46082440
 46172145
  89706
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14035.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 44074159
 44082820
  8662
 GRCh38
 Duplication
 Yes
  kushima_22_SCZ_discovery_cases-caseSCZ1230
 NA
 NA
 Schizophrenia
 Diagnosis of schizophrenia according to DSM-5 criteria.
 
 46062369
 46136832
  74464
 GRCh38
 Duplication
 Yes
  laurie_25_ASD/DD/ID_discovery_cases-caseP0021987
 
 M
 ASD and intellectual disability
 Thin upper lip vermilion/Macrotia/Autism/Short attention span/Hyperactivity/Intellectual disability/Absent speech
 
 46170855
 46694662
  523808
 GRCh38
 Deletion
 No
  leblond_12_ASD_replication_cases-Pintocase5237_3
 NA
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
 Below average non-verbal IQ (<1st %ile)
 46088437
 46277430
  188994
 GRCh38
 Duplication
 No
  leite_22_DD/ID_discovery_cases-case043
 18 yrs.
 F
 Developmental delay
 Global developmental delay
 
 45571295
 46135050
  563756
 GRCh38
 Deletion
 No
  leite_22_DD/ID_discovery_cases-case063
 22 yrs.
 F
 Developmental delay
 Global developmental delay, multiple stigmas, disturbance of brain electrical activity
 
 45626434
 46135050
  508617
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11454.p1
 NA
 F
 ASD
 NA
 NA
 45609038
 46090647
  481610
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-12701.p1
 NA
 M
 ASD
 NA
 NA
 42878720
 42944337
  65618
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband3
 15 yrs.
 M
 ASD and ID
 Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
 Intellectual disability
 46094522
 46211895
  117374
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown66
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 43026938
 43045421
  18484
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-MM0109-003
 NA
 F
 ASD
 nonverbal, severe repetitive behavior, mild dysmorphism
 IQ/LOF 27
 45122396
 45656617
  534222
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-MM0240-003
 NA
 F
 ASD
 NA
 NA
 45122396
 45695174
  572779
 GRCh38
 Deletion
 Yes
  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530599
  NA NA
 
 M
 Developmental delay
 Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
 
 45625365
 46125364
  500000
 GRCh38
 Deletion
 No
  mccormack_14_DD_discovery_cases-case1
 7.5 yrs.
 F
 Developmental delay
 Birth/neonatal history: delivered at 38 weeks of gestation via induction due to concerns of IUGR; birth weight of 2490 g (3rd-10th %ile); no antenatal complications. Developmental milestones: age-appropriate milestones (walking at 15 months, but always on toes); difficulties with abnormal gait, toe walking and lack of balance and control noted at age of 2 years 7 months. Language and communication evaluation: normal verbal skills. Motor and musculoskeletal evaluation: fine motor skills determined to be at a 4-5 years old level at age of 7.5 years; idiopathic toe-walking had resolved at age of 3 years. Behavioral/psychiatric evaluation: mild autistic traits; excellent social skills; friendly, amicable behavior. Dysmorphic features: possible almond shaped eyes, small hands. Growth parameters: microcephaly; head circumference of 47 cm (2nd %ile) at age of 5.5 years. Family history: first-born girl of non-consanguineous Iraqi and Afghani parents; unremarkable family history on maternal side of family; father reportedly struggled at school and may have been microcephalic.
 Developmental delay; functioning at 4-5 years of level academically at age of 7.5 years.
 45568513
 46215376
  646864
 GRCh38
 Duplication
 No
  miclea_22_DD/ID_discovery_cases-case154
  NA NA
 NA
 NA
 Developmental delay and intellectual disability
 Global developmental delay, dysmorphic features, cardiac malformation, genitourinary malformation
 Intellectual disability
 46086558
 46099737
  13180
 GRCh38
 Deletion
 No
  moessner_07_ASD_discovery_cases-case1
 NA
 F
 ASD
 Nonverbal speech, poor social interaction, repetitive behaviors
 Global developmental delay
 45122396
 45656617
  534222
 GRCh38
 Deletion
 No
  morrow_08_ASD_discovery_cases-case10601
 NA
 
 ASD
 NA
 NA
 41522000
 41710000
  187000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case11301
 NA
 
 ASD
 NA
 NA
 41007000
 41016000
  8900
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case5601
 NA
 
 ASD
 NA
 NA
 41007000
 41015000
  8300
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case5701
 NA
 
 ASD
 NA
 NA
 41500000
 41709000
  208000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case6301
 NA
 
 ASD
 NA
 NA
 41496000
 41711000
  216000
 Unknown
 Duplication
 No
  munnich_19_ASD_discovery_cases-case13
 N/A
 F
 ASD
 Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
 
 45640337
 46133456
  493120
 GRCh38
 Deletion
 Yes
  oikonomakis_16_ASD_discovery_cases-case35
 12 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: narrow downslanting palpebral fissures, thin upper lip, large prominent ears, deep philtrum, delayed myelinosis, hyperactivity, isolated behavior
 
 46025458
 46273786
  248329
 GRCh38
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case4
 4 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, behavioral problems, hyperactivity, atrophy of hippocampus on MRI
 
 46144377
 46380792
  236416
 GRCh38
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case40
 5 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, strabismus, iris colobomata, atrial septal defect
 
 46144377
 46267672
  123296
 GRCh38
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case447
 17 yrs.
 F
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures
 
 46111075
 46267672
  156598
 GRCh38
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case449
 18 yrs.
 F
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hearing impairment
 
 46111075
 46267672
  156598
 GRCh38
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case76
 5 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria
 Moderate ID
 46144377
 46267672
  123296
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5218_3
 NA
 M
 ASD
 NA
 NA
 43676421
 43736640
  60220
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5413_3
 NA
 M
 ASD
 NA
 NA
 44000392
 44032667
  32276
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case01HI2010A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU067705; NDAR ID NDAR_INVUL990PCP)
 
 43002671
 43013664
  10994
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case05HI4133A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0944302; NDAR ID NDAR_INVEM945BTQ)
 
 42989339
 43006970
  17632
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case85276L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 40873879
 41026262
  152384
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1338-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: unknown.
 45629934
 46129299
  499366
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11156.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
 43004493
 43015069
  10577
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11768.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
 44790075
 44799497
  9423
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11979.p1
 7.5
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
 42552167
 42559751
  7585
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12050.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
 43066316
 43074370
  8055
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 42949424
 42999726
  50303
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12201.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
 42949424
 42999726
  50303
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 42552167
 42556160
  3994
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 42880904
 42944381
  63478
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13057.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 118; verbal IQ, 87
 44795211
 44799497
  4287
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13388.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 81; verbal IQ, 113
 43004493
 43015069
  10577
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case24
 14 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 45629520
 46408464
  778945
 GRCh38
 Deletion
 No
  shen_10b_ASD_discovery_cases-caseII:5
 41 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
 IQ not tested; significant childhood learning disability
 41577520
 41706870
  129350
 Unknown
 Deletion
 No
  shen_10b_ASD_discovery_cases-caseIII:1
 12 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
 Mental retardation. WISC IQ score of 46.
 41577520
 41706870
  129350
 Unknown
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case45
 
 M
 DD/ID
 Narrow downslanting palpebral features, thin upper lip, large prominent ears, deep philtrum, hyperactive, isolated behavior
 
 46025458
 46273786
  248329
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case46
 
 M
 DD/ID
 Narrow downslanting palpebral features, thin upper lip, large prominent ears, deep philtrum, behavior: happy, good communication skills,
 
 45898341
 46709873
  811533
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case47
 
 M
 DD/ID
 Narrow downslanting palpebral features, thin upper lip, large prominent ears, deep philtrum, behavior: happy, increased phobias, anxiety, hypopigmentation, hypermetropia, seizures, bilateral vesicoureteric reux, joint laxity, brachydactyly, hypothyroidism, obesity, small penis
 
 45962570
 46550784
  588215
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case48
 
 F
 DD/ID
 Narrow downslanting palpebral features, thin upper lip, large prominent ears, deep philtrum, Global hirsutism, hemangioma of temporal region, strabismus, ataxic gait, obesity
 
 45855689
 46550784
  695096
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF1-003
 16 yrs. 7 mos.
 M
 Asperger syndrome
 Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
 Leiter-R IQ: 119 (92nd %ile)
 46088437
 46129299
  40863
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case519
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 46058429
 46120779
  62351
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-case1-0493-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 45306835
 46666434
  1359600
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_controls-controlSSC11751
  N/A
  F
  control
  Control from SSC_phase2 cohort
 
  45050126
  45054333
  4208
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1293
  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
 
  44169808
  44177993
  8186
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1396
  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
 
  44169808
  44206665
  36858
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1400
  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
 
  41424101
  41645244
  221144
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1485
  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
 
  41462229
  41645244
  183016
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1931
  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
 
  44169808
  44206665
  36858
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split2149
  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
 
  44169808
  44206665
  36858
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11160.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  43006947
  43014299
  7353
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13023.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  43006947
  43016144
  9198
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11516.s1
  NA
  M
  Control
  NA
  NA
  42610634
  42659741
  49108
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C28230
 
 
  Control
 
 
  39108286
  39173772
  65487
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11089.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  42939722
  42957094
  17373
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11160.s1
  11.5
  M
  Control (matched sibling)
  NA
  NA
  43005596
  43016313
  10718
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11645.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  44790075
  44799497
  9423
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11721.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  44754386
  44760112
  5727
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11768.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  44790075
  44799497
  9423
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12424.s1
  6.2
  F
  Control (matched sibling)
  NA
  NA
  42949424
  42999726
  50303
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13023.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  43005596
  43015069
  9474
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 ahmad_23_ASD/ADHD/DD_discovery_cases-case1
 FISH
 
 Paternal
 
 
 ARL17A,KANSL1,LRRC37A2,FAM215B,KANSL1-AS1,MAPK8IP1P1,NSFP1,NSF,ARL17B,RN7SL199P,RN7SL656P,RDM1P2,LRRC37A
 
 ahn_13_SCZ_discovery_cases-NSB_ID1546
 Validation based on familial presence of CNV
 
 Paternal
 Unknown
 Unknown
 MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,MAPT-AS1,MAPT,KANSL1
 
 akkus_24_ASD/DD/ID_discovery_cases-case77A
 
 
 Unknown
 
 
 CRHR1,LRRC37A4P,LINC02210,SPPL2C,KANSL1,STH,MAPK8IP1P2,RPS26P8,DND1P1,MAPT-AS1,MAPT-IT1,MAPT,MIR4315-1,LINC02210-CRHR1,RDM1P1,PLEKHM1
 
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2019
 
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 asadollahi_14_NDD_discovery_cases-case52253
 MLPA
 
 Unknown (parents N/A)
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 asadollahi_14_NDD_discovery_cases-case71264
 MLPA
 
 De novo
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 bacchelli_20_ASD_discovery_cases-caseAB56
 qPCR
 
 Paternal
 Simplex
 
 SLC25A39
 
 brandler_18_ASD_replication_cases-caseAU4463303
 No validation step reported
 
 De novo
 
 
 ASB16-AS1,ATXN7L3,MIR6782,SHC1P2,RN7SL507P,RNU6-453P,RUNDC3A,C17orf53,TMUB2,UBTF,SLC4A1,ASB16,RUNDC3A-AS1
 
 brandler_18_ASD_replication_cases-caseSSC11745
 No validation step reported
 
 Paternal
 
 
 DCAKD,NMT1
 
 celestino-soper_11_ASD_discovery_cases-11406
 aCGH (Agilent 4x180K or 8x60K)
 
 De novo
 Simplex
 NA
 ARL17B,LRRC37A,NSFP1
 
 chaves_19_ASD/DD/ID_discovery_cases-case216
 
 
 Unknown
 
 
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 chaves_19_ASD/DD/ID_discovery_cases-case81
 
 
 Unknown
 
 
 RDM1P1,DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,LRRC37A4P,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 chaves_24_ASD/DD/ID_discovery_cases-case960
 
 
 Unknown
 
 
 CRHR1,LINC02210,SPPL2C,KANSL1,STH,MAPT-AS1,MAPT-IT1,MAPT,LINC02210-CRHR1
 
 chung_11_ASD_discovery_cases-proband
 
 
 Both parents
 Simplex
 NA
 RDM1P2,RN7SL199P,FAM215B,ARL17B,LRRC37A,NSFP1,LRRC37A2,ARL17A,NSF
 
 cucinotta_23_ASD_discovery_cases-case108
 
 
 Paternal
 
 
 KANSL1,KANSL1-AS1
 
 davis_09_ASD_discovery_cases-AU002105
 
 
 Unknown
 Unknown
 Unknown
 KIAA1267
 
 davis_09_ASD_discovery_cases-AU017704
 
 
 Unknown
 Unknown
 Unknown
 KIAA1267
 
 davis_09_ASD_discovery_cases-AU019705
 
 
 Unknown
 Unknown
 Unknown
 KIAA1267
 
 davis_09_ASD_discovery_cases-AU026803
 
 
 Unknown
 Unknown
 Unknown
 PLEKHM1
 
 davis_09_ASD_discovery_cases-AU033403
 
 
 Unknown
 Unknown
 Unknown
 KIAA1267
 
 davis_09_ASD_discovery_cases-AU057905
 
 
 Unknown
 Unknown
 Unknown
 KIAA1267
 
 davis_09_ASD_discovery_cases-AU059003
 
 
 Unknown
 Unknown
 Unknown
 MAPT, STH, KIAA1267
 
 davis_09_ASD_discovery_cases-AU059004
 
 
 Unknown
 Unknown
 Unknown
 MAPT, STH, KIAA1267
 
 davis_09_ASD_discovery_cases-AU1376302
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 davis_12_ASD_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 ARL17B,NSFP1
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300602
 qPCR
 
 Unknown
 
 
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 egger_14_ASD_discovery_cases-caseA44
 qPCR
 
 Maternal
 
 Unknown
 ASB16-AS1,ATXN7L3,MIR6782,SHC1P2,RN7SL507P,RNU6-453P,RUNDC3A,SLC25A39,C17orf53,TMUB2,UBTF,SLC4A1,ASB16,RUNDC3A-AS1
 
 engchuan_15_ASD_discovery_cases-case5218_3
 
 
 Unknown
 
 
 LINC02594
 
 engchuan_15_ASD_discovery_cases-case5413_3
 
 
 Unknown
 
 
 PYY,NAGS,TMEM101
 
 feliciano_19_ASD_discovery_cases-caseSP0001598
 
 
 Paternal
 Simplex
 
 RUNDC3A,SLC25A39,FAM171A2,RPL7L1P5,GRN,ITGA2B,RUNDC3A-AS1
 null
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259863
 
 
 De novo
 Simplex
 Segregated
 HIGD1B,EFTUD2
 
 girirajan_11_ASD_discovery_cases-Si167
 
 
 Unknown
 Simplex
 
 KANSL1-AS1,MAPK8IP1P1,KANSL1
 
 girirajan_11_ASD_discovery_cases-Si183
 
 
 Unknown
 Simplex
 
 KANSL1-AS1,MAPK8IP1P1,KANSL1
 
 girirajan_11_ASD_discovery_cases-Si323
 
 
 Unknown
 Simplex
 
 SPATA32,FMNL1,MAP3K14-AS1,MAP3K14
 
 girirajan_11_ASD_discovery_cases-Si7
 
 
 Unknown
 Simplex
 
 KANSL1-AS1,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1488
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1489
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1490
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1491
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1492
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1493
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1494
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1495
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1496
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1497
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1498
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1499
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1500
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1501
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1502
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1503
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1504
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1505
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1506
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1507
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1508
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1509
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1510
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1511
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1512
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1513
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1514
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1515
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1516
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1517
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1518
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1519
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1520
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1521
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1522
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1523
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1524
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1525
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1526
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1527
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1528
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1529
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1530
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1531
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1532
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1533
 NA
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case43248
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 grisart_09_DD/ID/ASD/ADHD_discovery_cases-case1
 qPCR
 
 De novo
 Simplex
 Likley segregated
 CRHR1,SPPL2C,MAPT,STH,KANSL1
 
 grisart_09_DD/ID/ASD/ADHD_discovery_cases-case2
 qPCR, FISH
 
 De novo
 Simplex
 Likley segregated
 CRHR1,SPPL2C,MAPT,STH,KANSL1
 
 grisart_09_DD/ID/ASD/ADHD_discovery_cases-case3
 qPCR
 
 De novo
 Simplex
 Likley segregated
 CRHR1,SPPL2C,MAPT,STH,KANSL1
 
 grisart_09_DD/ID/ASD/ADHD_discovery_cases-case4
 qPCR
 
 Unknown
 Simplex
 Unknown
 MAPT,STH,KANSL1
 
 iourov_12_ASD/ID/EP_discovery_cases-case28
 
 
 Unknown
 Unknown
 Unknown
 ETV4,DHX8,MEOX1
 
 iourov_12_ASD/ID/EP_discovery_cases-case45
 
 
 Unknown
 Unknown
 Unknown
 ETV4,DHX8,MEOX1
 
 iourov_12_ASD/ID/EP_discovery_cases-case47
 
 
 Unknown
 Unknown
 Unknown
 ETV4,DHX8,MEOX1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000796
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000938
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000949
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001128
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001649
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001663
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001740
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR6783,C1QL1,MIR6784,HEXIM1,HEXIM2,GFAP,KIF18B,DCAKD,PLCD3,ACBD4,NMT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001809
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002043
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002317
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR6783,C1QL1,MIR6784,HEXIM1,HEXIM2,SPATA32,KIF18B,DCAKD,PLCD3,ACBD4,FMNL1,MAP3K14-AS1,MAP3K14,NMT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002516
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002675
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002683
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002772
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003930
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004089
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004581
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004606
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SOST,CFAP97D1,FAM215A,LINC01976,RNU6-131P,ASB16-AS1,ATXN7L3,MIR6782,SHC1P2,RN7SL507P,RNU6-453P,RUNDC3A,SLC25A39,FAM171A2,RPL7L1P5,RN7SL258P,FZD2,SMCO4P1,RN7SL819P,ETV4,LINC02594,MPP3,CD300LG,PPY,PYY,NAGS,TMEM101,G6PC3,HDAC5,C17orf53,TMUB2,UBTF,SLC4A1,GRN,ITGA2B,LINC01180,MEIOC,CCDC43,DBF4B,ADAM11,DHX8,MEOX1,DUSP3,MPP2,ASB16,RUNDC3A-AS1,GPATCH8,LSM12
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004710
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004741
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004870
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,LINC02210,CRHR1,ARL17B,LRRC37A,LINC02210-CRHR1,MAPT-AS1,MAPT,NSFP1,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005005
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005431
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 kanduri_15_ASD_discovery_cases-case1869
 
 
 De novo
 Unknown
 Unknown
 KANSL1 (intronic)
 
 kanduri_15_ASD_discovery_cases-case1939
 
 
 Paternal
 Unknown
 Unknown
 KANSL1
 
 kanduri_15_ASD_discovery_cases-case1958
 
 
 De novo
 Unknown
 Unknown
 KANSL1
 
 kanduri_15_ASD_discovery_cases-case3051
 
 
 De novo
 Unknown
 Unknown
 DHX8,ETV4,MEOX1
 
 kanduri_15_ASD_discovery_cases-case3051
 
 
 De novo
 Unknown
 Unknown
 ACBD4,C1QL1,CCDC103,DCAKD,EFTUD2,FMNL1,GFAP,HEXIM1,HEXIM2,HIGD1B,KIF18B,NMT1,PLCD3
 
 krumm_15_ASD_discovery_cases-case11156.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RPL27,IFI35
 
 krumm_15_ASD_discovery_cases-case11982.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 RPS7P11,LINC01974,RNU6ATAC3P,WNT9B,NSF,WNT3,GOSR2
 
 krumm_15_ASD_discovery_cases-case12050.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 BRCA1
 
 krumm_15_ASD_discovery_cases-case12547.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 IFI35,VAT1
 
 krumm_15_ASD_discovery_cases-case12701.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RNU6-287P,LINC00671,G6PC
 
 krumm_15_ASD_discovery_cases-case13424.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 RUNDC3A,SLC25A39
 
 krumm_15_ASD_discovery_cases-case13701.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 KANSL1
 
 krumm_15_ASD_discovery_cases-case14035.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 G6PC3,HDAC5
 
 kushima_22_SCZ_discovery_cases-caseSCZ1230
 qRT-PCR
 
 Unknown
 
 
 KANSL1
 
 laurie_25_ASD/DD/ID_discovery_cases-caseP0021987
 
 
 Unknown
 Unknown
 
 ARL17A,KANSL1,LRRC37A2,FAM215B,KANSL1-AS1,MAPK8IP1P1,NSFP1,NSF,ARL17B,RN7SL199P,RN7SL656P,RDM1P2,LRRC37A
 
 leblond_12_ASD_replication_cases-Pintocase5237_3
 
 
 Paternal
 
 
 KANSL1-AS1,MAPK8IP1P1,ARL17B,KANSL1
 
 leite_22_DD/ID_discovery_cases-case043
 
 
 De novo
 
 
 CRHR1,LRRC37A4P,LINC02210,SPPL2C,KANSL1,STH,MAPK8IP1P2,RPS26P8,DND1P1,MAPT-AS1,MAPT-IT1,MAPT,LINC02210-CRHR1
 
 leite_22_DD/ID_discovery_cases-case063
 
 
 De novo
 
 
 CRHR1,LINC02210,SPPL2C,KANSL1,STH,MAPT-AS1,MAPT-IT1,MAPT,LINC02210-CRHR1
 
 levy_11_ASD_discovery_cases-11454.p1
 
 
 De novo
 Simplex
 Segregated
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 levy_11_ASD_discovery_cases-12701.p1
 
 
 Maternal
 Simplex
 Segregated
 RNU6-287P,LINC00671,G6PC
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband3
 
 
 Unknown
 Simplex
 Unknown
 KANSL1-AS1,KANSL1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown66
 
 
 Paternal
 Unknown
 Unknown
 RND2,BRCA1
 
 marshall_08_ASD_discovery_cases-MM0109-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 HEXIM1,HEXIM2,SPATA32,RNA5SP443,MIR4315-1,RDM1P1,DND1P1,MAPK8IP1P2,RPS26P8,PLCD3,ACBD4,FMNL1,MAP3K14-AS1,MAP3K14,ARHGAP27,LRRC37A4P,LINC02210,PLEKHM1,LINC02210-CRHR1
 
 marshall_08_ASD_discovery_cases-MM0240-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 HEXIM1,HEXIM2,SPATA32,RNA5SP443,MIR4315-1,RDM1P1,DND1P1,MAPK8IP1P2,RPS26P8,PLCD3,ACBD4,FMNL1,MAP3K14-AS1,MAP3K14,ARHGAP27,LRRC37A4P,LINC02210,PLEKHM1,LINC02210-CRHR1
 
 mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530599
 
 
 Unknown
 
 
 CRHR1,LINC02210,SPPL2C,KANSL1,STH,MAPT-AS1,MAPT-IT1,MAPT,LINC02210-CRHR1
 
 mccormack_14_DD_discovery_cases-case1
 
 Possibly parental
 Unknown
 Possibly multi-generational
 Unknown
 DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 miclea_22_DD/ID_discovery_cases-case154
 
 
 Unknown
 
 
 KANSL1
 
 moessner_07_ASD_discovery_cases-case1
 
 
 Paternal
 Simplex
 NA
 HEXIM1,HEXIM2,SPATA32,RNA5SP443,MIR4315-1,RDM1P1,DND1P1,MAPK8IP1P2,RPS26P8,PLCD3,ACBD4,FMNL1,MAP3K14-AS1,MAP3K14,ARHGAP27,LRRC37A4P,LINC02210,PLEKHM1,LINC02210-CRHR1
 
 morrow_08_ASD_discovery_cases-case10601
 
 
 Maternal
 NA
 NA
 KIAA1267
 
 morrow_08_ASD_discovery_cases-case11301
 
 
 Maternal
 NA
 NA
 5' end of PLEKHM1
 
 morrow_08_ASD_discovery_cases-case5601
 
 
 Paternal
 NA
 NA
 0 genes
 
 morrow_08_ASD_discovery_cases-case5701
 
 
 Maternal
 NA
 NA
 KIAA1267
 
 morrow_08_ASD_discovery_cases-case6301
 
 
 Paternal
 NA
 NA
 KIAA1267
 
 munnich_19_ASD_discovery_cases-case13
 FISH
 
 De novo
 
 
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 oikonomakis_16_ASD_discovery_cases-case35
 
 
 De novo
 
 
 KANSL1-AS1,MAPK8IP1P1,MAPT,KANSL1
 
 oikonomakis_16_ASD_discovery_cases-case4
 
 
 De novo
 
 
 KANSL1-AS1,MAPK8IP1P1,RN7SL656P,ARL17B,LRRC37A,NSFP1,KANSL1
 
 oikonomakis_16_ASD_discovery_cases-case40
 
 
 Unknown
 
 
 KANSL1-AS1,MAPK8IP1P1,KANSL1
 
 oikonomakis_16_ASD_discovery_cases-case447
 
 
 Unknown
 
 
 KANSL1-AS1,MAPK8IP1P1,KANSL1
 
 oikonomakis_16_ASD_discovery_cases-case449
 
 
 Unknown
 
 
 KANSL1-AS1,MAPK8IP1P1,KANSL1
 
 oikonomakis_16_ASD_discovery_cases-case76
 
 
 Unknown
 
 
 KANSL1-AS1,MAPK8IP1P1,KANSL1
 
 pinto_10_ASD_discovery_cases-case5218_3
 Agilent1M
 
 maternal
 NA
 NA
 LINC02594
 
 pinto_10_ASD_discovery_cases-case5413_3
 Agilent1M
 
 paternal
 NA
 NA
 PYY,NAGS,TMEM101
 
 poultney_13_ASD_discovery_cases-case01HI2010A
 qPCR
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPL27,IFI35
 
 poultney_13_ASD_discovery_cases-case05HI4133A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPL27,IFI35,RUNDC1
 
 prasad_12_ASD_discovery_cases-case85276L
 
 
 Unknown
 Unknown
 Unknown
 PLEKHM1,MIR4315-1,LRRC37A4,MIR4315-2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1338-0
 qPCR
 
 De novo
 Unknown
 Unknown
 SPPL2C,MAPT-IT1,STH,LINC02210,CRHR1,LINC02210-CRHR1,MAPT-AS1,MAPT,KANSL1
 
 sanders_11_ASD_discovery_cases-11156.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 IFI35,VAT1
 
 sanders_11_ASD_discovery_cases-11768.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GJC1
 
 sanders_11_ASD_discovery_cases-11979.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HSD17B1
 
 sanders_11_ASD_discovery_cases-12050.p1
 
 
 Maternal
 Simplex (trio)
 NA
 BRCA1
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RPL27,PTGES3L-AARSD1,AARSD1,PTGES3L,RUNDC1
 
 sanders_11_ASD_discovery_cases-12201.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RPL27,PTGES3L-AARSD1,AARSD1,PTGES3L,RUNDC1
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Maternal
 Simplex (trio)
 NA
 HSD17B1
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 RNU6-287P,LINC00671,G6PC
 
 sanders_11_ASD_discovery_cases-13057.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GJC1
 
 sanders_11_ASD_discovery_cases-13388.p1
 
 
 Maternal
 Simplex (trio)
 NA
 IFI35,VAT1
 
 sansovic_17_DD/ID/ASD_discovery_cases-case24
 
 
 Unknown
 
 
 SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,LINC02210,CRHR1,ARL17B,LRRC37A,LINC02210-CRHR1,MAPT-AS1,MAPT,NSFP1,KANSL1
 
 shen_10b_ASD_discovery_cases-caseII:5
 
 
 Maternal
 Simplex
 Unknown
 KANSL1
 
 shen_10b_ASD_discovery_cases-caseIII:1
 
 Paternal
 Paternal
 Simplex (ASD), Multiplex (language delay)
 Not segregated
 KANSL1
 
 tzetis_12_DD/ID_discovery_cases-case45
 
 
 De novo
 Unknown
 
 KANSL1-AS1,MAPK8IP1P1,MAPT,KANSL1
 
 tzetis_12_DD/ID_discovery_cases-case46
 
 
 De novo
 Unknown
 
 MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,ARL17B,LRRC37A,MAPT,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
 
 tzetis_12_DD/ID_discovery_cases-case47
 
 
 De novo
 Unknown
 
 STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,ARL17B,LRRC37A,MAPT,NSFP1,LRRC37A2,ARL17A,KANSL1
 
 tzetis_12_DD/ID_discovery_cases-case48
 
 
 Paternal
 Unknown
 
 MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,ARL17B,LRRC37A,MAPT-AS1,MAPT,NSFP1,LRRC37A2,ARL17A,KANSL1
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 KANSL1
 
 yin_16_ASD_discovery_cases-case519
 
 
 Unknown
 Unknown
 Unknown
 KANSL1
 
 yuen_17_ASD_discovery_cases-case1-0493-003
 CNV not detected by WGS, identified via Affymetrix 6.0
 
 Paternal
 Simplex
 Unknown
 RNA5SP443,MIR4315-1,RDM1P1,DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,MAP3K14,ARHGAP27,LRRC37A4P,LINC02210,CRHR1,ARL17B,LRRC37A,PLEKHM1,LINC02210-CRHR1,MAPT-AS1,MAPT,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC11751
  No validation step reported
 
  Paternal
 
 
  DCAKD,NMT1
 
kanduri_15_ASD_discovery_controls-control_split1293
 
 
  Unknown
 
 
  KANSL1
 
kanduri_15_ASD_discovery_controls-control_split1396
 
 
  Unknown
 
 
  KANSL1
 
kanduri_15_ASD_discovery_controls-control_split1400
 
 
  Unknown
 
 
  ARL4D,DHX8,ETV4
 
kanduri_15_ASD_discovery_controls-control_split1485
 
 
  Unknown
 
 
  ARL4D,DHX8,ETV4
 
kanduri_15_ASD_discovery_controls-control_split1931
 
 
  Unknown
 
 
  KANSL1
 
kanduri_15_ASD_discovery_controls-control_split2149
 
 
  Unknown
 
 
  KANSL1
 
krumm_15_ASD_discovery_controls-control11160.s1
  Illumina 1M
 
  Maternal
 
 
  IFI35
 
krumm_15_ASD_discovery_controls-control13023.s1
  Illumina 1MDuo
 
  Maternal
 
 
  IFI35,VAT1
 
levy_11_ASD_discovery_controls-11516.s1
 
 
  Paternal
  Simplex
  NA
  ATP5MGP7,HMGB3P27,TUBG1,TUBG2
 
nord_11_ASD_discovery_controls-04C28230
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11089.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PTGES3L-AARSD1,AARSD1
 
sanders_11_ASD_discovery_controls-11160.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IFI35,VAT1
 
sanders_11_ASD_discovery_controls-11645.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GJC1
 
sanders_11_ASD_discovery_controls-11721.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ADAM11
 
sanders_11_ASD_discovery_controls-11768.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GJC1
 
sanders_11_ASD_discovery_controls-12424.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RPL27,PTGES3L-AARSD1,AARSD1,PTGES3L,RUNDC1
 
sanders_11_ASD_discovery_controls-13023.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IFI35,VAT1
 

No Animal Model Data Available
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