3p26.3CNV Type: Deletion-Duplication
Largest CNV size: 1133950 bp
Statistics Box:
Number of Reports: 63
Number of Reports: 63
Summary Information
Deletions and duplications at the 3p26.3 locus have been observed at approximately equal frequencies in autistic cohorts. Potential genes of interest in this locus include members of the contactin gene family CNTN4 and CNTN6.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Disruption of contactin 4 in three subjects with autism spectrum disorder.
Deletion-Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Disruption of Contactin 4 in two subjects with autism in Chinese population.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.
Deletion-Duplication
Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Deletion-Duplication
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
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.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
340638
0
3
3
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
587000
0
1
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
69321
2
0
2
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
70592
2
0
2
chaves_19_ASD/DD/ID_discovery_cases
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
1255177
0
1
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
717422
0
1
1
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
33630
0
1
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
700000
1
0
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
2533
2
0
2
cottrell_11_ASD_discovery_cases
4 yr old male ASD patient referred to Nationwide Children's Hospital (NCH), Columbus OH, genetics clinic for evaluation & genetic counseling regarding a diagnosis of autism & an abnormal microarray
1
ASD (ADOS)
4
Male
535000
1
0
1
digregorio_17_DD/ID_discovery_cases
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
2100000
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
1597447
14
17
31
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
181802
0
1
1
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
575000
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
929699
1
3
4
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
668817
5
3
8
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
82492
2
0
2
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.
741007
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1296000
0
12
12
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
732
3
1
4
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
732
7
8
15
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1597447
1
0
1
guo_12_ASD_discovery_cases
Autistic probands recruited from the Outpatient Department of Mental Health Institute at the Second Xiangya Hospital of Central South University, Changsha, China
2
Diagnosis of autism by experienced psychiatrists according to DSM-IV-TR criteria for autism and assessed by neurological evaluations, mental status examinations, Childhood Autism Rating Scale (CARS), and chromosomal karyotype analysis.
Range, 6-7 yrs.
Male
1600000
0
2
2
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
1859623
0
1
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
186599
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
74533
1
0
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
159000
0
1
1
hu_15_ASD/DD/ID/EP_discovery_cases
3724 patients ascertained through the University of Pittsburgh Medcial Center from January 2009 to January 2013 that were screened to identify individuals with 3p26.3 CNVs involving the CNTN6 gene
3724
Reasons for referral: multiple congenital anomalies, heart defects, short stature, developmental delay, intellectual disability, ASD, seizures, or other unexplained anomalies
N/A
N/A
2050000
7
7
14
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
1421815
12
15
27
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
38312
0
1
1
kashevarova_14_ASD/ID_discovery_cases
Two affected siblings and two additional unrelated patients with CNVs at the 3p26.3 locus
4
All four cases present with intellectual disability (ID); one case with an additional diagnosis of atypical autism (diagnostic tools N/A)
Range, 9-15 yrs.
50% Male
766100
3
1
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
255410
1
10
11
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
2351817
4
1
5
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
30965
1
0
1
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
2351818
4
1
5
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
1315754
2
0
2
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
99035
2
0
2
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
69707
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
1006
1
0
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
895438
0
2
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1300000
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
206000
0
2
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
888545
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
57616
1
0
1
li_16_ASD/DD_discovery_cases
First child of healthy, non-consanguineous parents presenting with a maternally-inherited 3p26.3 microduplication containing the CHL1 gene
1
Case diagnosed with ASD and developmental delay. Diagnosis of ASD according to DSM-V criteria and evaluation by ADOS-Toddler Module. Cognitive and developmental evaluation performed using Bayley Scales of Infant Development-2.
16 mos.
Male
687000
0
1
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
1321574
0
1
1
maini_18_ASD/DD/ID_discovery_cases
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
1500000
0
1
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
74287
0
1
1
mercati_16_ASD_discovery_cases
ASD probands from the Paris Autism Research International Sibpair (PARIS) cohort screened for CNVs involving CNTN5 and CNTN6
633
Diagnosis of ASD based on clinical expert assessment including ADI-R or DISCO-10 and ADOS. Intellectual quotient measured using age-appropriate Wechsler scale, Raven's Standard Progressive Matrices, or Peabody Picture Vocabulary Test.
<12 yrs., n=11; 12-<18 yrs., n=119; 18 years or older, n=317; age N/A, n=186
82.46% Male
636491
4
0
4
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
247000
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
17618
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
203709
1
3
4
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
1143829
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
787697
3
7
10
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
1597448
2
0
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
1262016
3
4
7
repnikova_19_ASD/DD/ADHD_discovery_cases
Unrelated individuals with exonic CNVs involving the CNTN6 gene from an initial cohort of 6,200 patients referred to Children's Mercy Hospital and 14,026 patients referred to Nationwide Children's Hospital for microarray testing from 2008 to 2015
19
The most frequently observed phenotypes in this cohort were developmental delay (9 patients), ASD (diagnosis based on DSM-IV criteria in seven patients), and ADHD (six patients).
Range, 10 days-60 years
63.16% Male
650460
6
13
19
roohi_09_ASD_discovery_cases
Subjects from 81 different families recruited from Cody Center for Autism and Developmental Disabilities clinic
92
ASD
791097
2
1
3
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
829637
2
1
3
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
335709
0
1
1
salyakina_11_ASD_discovery_cases
ASD patients from extended ASD families (defined as families with at least two affected cousins)
97
ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
Range, 3-21 yrs.
46687
0
2
2
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
883084
41
15
56
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
381000
1
1
2
schmitz-abe_20_ASD_discovery_cases
ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
255
Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
N/A
N/A
5101
2
0
2
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
70876
1
0
1
tropeano_16_ASD/NDD_replication_cases
Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
18857
Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
N/A
BBGRE cohort, 67% Male; Hospit
316290
1
0
1
van_daalen_11_ASD_discovery_cases
ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
50
ASD (DSM-IV-TR, ADOS-G, and ADI-R)
1133950
1
1
2
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
1127000
0
0
0
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
2237999
1
2
3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
1734890
1
2
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
593330
0
1
1
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
69321
1
0
1
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
700000
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
1472920
12
33
45
gai_11_ASD_discovery_controls
Samples recruited from visits conducted within CHOP healthcare network
1775
Controls: patients screened for having no chronic illness/health issues as well as autism
Range, 3-18 yrs.
N/A
1
gai_11_ASD_replication_controls
Healthy individuals comprising the CHOP CNV resource
2026
Controls
N/A
1
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.
741007
0
0
0
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1597447
0
0
0
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
36296
7
0
7
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1350872
1
3
4
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
287639
4
0
4
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
160010
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
888545
1
2
3
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
mercati_16_ASD_discovery_controls
Controls from this study (n=2126), SAGE+ Hapmap3 (Pinto et al., 2010; n=1287), HBAC (n=2566), KORA (n=1775), and COGEND (n=1182) screened for CNTN5 and CNTN6 CNVs
8936
Control
N/A
N/A
N/A
1
12
13
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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.
584805
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
1262016
0
0
0
roohi_09_ASD_discovery_controls
Unrelated normal controls (NIMH)
560
Controls
791097
0
0
0
salyakina_11_ASD_discovery_controls
Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
838
Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
46687
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
883084
32
8
40
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
1127000
0
2
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
None
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
NGS (XHMM), aCGH (Agilent 180K)
cottrell_11_ASD_discovery_cases
aCGH
BAC-based microarray; SignatureChip v4.0 (Signature Genomic Labs)
Genoglyphix
FISH
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
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
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
qPCR
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
qPCR
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
guo_12_ASD_discovery_cases
Han Chinese
Solid phase hybridization
Illumina HumanCNV370-Quad BeadChip
PennCNV
qPCR
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
hu_15_ASD/DD/ID/EP_discovery_cases
N/A
aCGH
NimbleGen135K
Genoglyphix v2.6
FISH
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
kashevarova_14_ASD/ID_discovery_cases
N/A
aCGH, array SNP
Agilent 60K, Affymetrix CytoScan ID
RT-PCR
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_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
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
li_16_ASD/DD_discovery_cases
China
aCGH
N/A
qPCR
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
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
mercati_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 660W Quad, Illumina 1M duo, Illumina Omni1, Illumina Omni2.6
PennCNV, QuantiSNP
None
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
repnikova_19_ASD/DD/ADHD_discovery_cases
N/A
aCGH, array SNP
Roche NimbleGen 135K, Agilent CGH+SNP 135K, OGT 4x180K ISCA v2, Affymetrix Cytoscan HD
Agilent CGH analytics v.3.4.40, Agilent Feature Extraction v.9.5.1, Agilent DNA Analytics v.4.0.91,
FISH, qPCR
roohi_09_ASD_discovery_cases
aCGH
Tiling path BAC arrays
FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
salyakina_11_ASD_discovery_cases
Solid phase hybridization
Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
PennCNV
BeadStudio v3
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
schmitz-abe_20_ASD_discovery_cases
Middle Eastern
Array SNP
Affymetrix 6.0, Affymetrix 500K
qPCR
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
tropeano_16_ASD/NDD_replication_cases
United Kingdom and Canada
aCGH
Agilent 60K, OGT Cytosure 4x180K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
None
van_daalen_11_ASD_discovery_cases
Netherlands
Solid phase hybridization
Illumina HumanHap300 BeadChip
Beadstudio V2.3.41
Inheritance
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_controls
1005 European descent, 723 African descent, 47 Asian descent
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_controls
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
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
mercati_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 660Wq, Illumina 1M, Illumina 1M duo, Illumina Omni1, Illumina 2.5M, Illumina 2.5M Quad, Illumina 5M
None
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
roohi_09_ASD_discovery_controls
aCGH
Tiling path BAC arrays
salyakina_11_ASD_discovery_controls
727 Caucasian, 111 African-American
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case152
0.75 yrs.
F
Developmental delay
Developmental delay, congenital heart disease (CHD) in early neonatal period and was diagnosed as having large aortic ventricular septal defect (VSD) with inlet extension, large patent ductus arteriosus (PDA), mild TR, and severe pulmonary hypertension. She had history of fast breathing, feeding difficulty with failure to thrive, excesssive sweating and repeated LRTI's since neonatal period. Growth parameters: height 0.64 m, weight 7 kg, head circumference 41 cm. Family history: no data on familial consanguinity.
1122625
1355689
233065
GRCh38
Duplication
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case42
3.33 yrs.
F
Developmental delay and seizures
Febrile seizures, speech delay, lack of social interaction. Growth parameters: height 0.93 m, weight 14 kg, head circumference 46 cm. Family history: one sibling is also affected; born to consanguineous parents.
1145826
1486463
340638
GRCh38
Duplication
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case43
9.67 yrs.
F
ASD, developmental delay, and seizures
Autism, seizure free for 3 years, low memory, speech delay, behavioral problem. Growth parameters: height 1.28 m, weight 18 kg, head circumference 48 cm. Family history: one sibling is affected; born to consanguineous parents.
1145826
1470903
325078
GRCh38
Duplication
No
bitar_19_ASD_discovery_cases-case92
N/A
M
ASD and Down syndrome
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: echolalia, hyperactivity, fear, anxiety, self-injurious behavior. Additional medical history: Down syndrome. Family history: born to non-consanguineous parents; history of hypertension on the maternal side of the family.
118028
705158
587131
GRCh38
Duplication
Yes
brandler_18_ASD_discovery_cases-caseSSC03348
N/A
M
ASD
Case from SSC_phase1 cohort
2169609
2238930
69322
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC11369
N/A
M
ASD
Case from SSC_phase1 cohort
2238214
2238937
724
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case1-0125-003
N/A
M
ASD
Case from MSSNG cohort
2722864
2727960
5097
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case1-0804-003
N/A
M
ASD
Case from MSSNG cohort
2473732
2544323
70592
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case223
10 yrs.
M
Developmental delay and intellectual disability
Short stature, intrauterine growth retardation, developmental delay, mild intellectual disability, facial dysmorphism (narrow face, dolichocephaly, high-arched palate, microtia), nipple hypertelorism, constipation
Mild intellectual disability
213962
1469138
1255177
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case33
NA
M
ASD and ADHD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with ADHD.
624573
1341994
717422
GRCh38
Duplication
No
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
52266
85896
33631
GRCh38
Duplication
No
christian_08_ASD_discovery_cases-AU066005
NA
F
ASD
NA
NA
2305040
2894900
589861
GRCh38
Deletion
Yes
costa_21_ASD_discovery_cases-caseP124
NA
M
ASD and developmental delay
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: speech delay, poor fine motor coordination, frequent constipation.
1401225
1403757
2533
GRCh38
Deletion
Yes
costa_21_ASD_discovery_cases-caseP127
NA
M
ASD, developmental delay, and seizures
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: speech delay, reflux, seizures.
1401225
1403757
2533
GRCh38
Deletion
Yes
cottrell_11_ASD_discovery_cases-probandA154
4
M
ASD
Total score on ADOS Module 1 =19; Age 2 yrs.: normal motor milestones, significant developmental/speech delays (no intelligble speech). Age 3.5 yrs.: echolalia, hand flapping, fascination with lights, daily tantrums, episodes of aggression; no dysmorphism; weight 85th centile, height 35th centile , head circumference 75-90th centile.
Leiter-R IQ=109 (73%); Mullen Early Scales of Learning Composite Score of 49 (<1%), with delays in all areas
1694496
2228941
534446
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300203
N/A
M
Abnormal facial shape, arachnoid cyst
52266
2143591
2091326
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1108_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1537586
1680597
143012
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13035_443
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1929932
2004726
74795
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14121_2140
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
453655
543407
89753
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14151_2500
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19366
282466
263101
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14281_4040
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2348928
2858416
509489
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14364_4780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40338
87014
46677
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14387_4960
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1101740
2170634
1068895
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16059_1571075001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
200230
241356
41127
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16095_1571145001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1680597
1716405
35809
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17035_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
251309
415481
164173
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20070_1331001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1840507
1913397
72891
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3085_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19366
209321
189956
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3147_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1614300
1690164
75865
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3614_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2478019
2542692
64674
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4374_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19366
1616807
1597442
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4386_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2704772
3088961
384190
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4386_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1017970
1490847
472878
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5065_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1703098
1770268
67171
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5081_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1074220
1200412
126193
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5146_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
295862
336386
40525
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5241_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
447498
1235193
787696
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5267_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3081642
3167834
86193
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5269_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2628024
2859963
231940
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5312_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
210661
1469424
1258764
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5355_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1961820
2134481
172662
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5391_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1251658
1290513
38856
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5456_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40338
91729
51392
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6037_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40338
85994
45657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6319_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2375807
2445513
69707
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8007_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1846201
1899676
53476
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8452_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
842168
1092761
250594
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0028854
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
1220686
1402487
181802
GRCh38
Duplication
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR981
5 yrs.
F
ASD, developmental delay and epilepsy
Clinical features: severe developmental delay, developmental regression, ASD, leg hypertonia. Age of seizure onset: 1 week. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, atonic seizures, myoclonic seizures, tonic seizures.
Severe developmental delay
684991
1260146
575156
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1070302
Autism
2004929
2934627
929699
Unknown
Duplication
Yes
gai_11_ASD_discovery_cases-AU1156301
Autism
947059
989483
42425
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1916302
Autism
947059
1306135
359077
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1916302
Autism
1475657
1894850
419194
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU025503
Autism
1561672
1697281
135610
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU025506
Autism
1561672
1697281
135610
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU036404
Autism
1862885
1915922
53038
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU038004
Autism
1074220
1200412
126193
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU044004
Autism
858851
1118424
259574
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU066004
Autism
2187318
2856134
668817
Unknown
Deletion
Yes
gai_11_ASD_replication_cases-AU066005
Autism
2187318
2856134
668817
Unknown
Deletion
Yes
gai_11_ASD_replication_cases-AU0920302
Autism
1056998
1217096
160099
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case523-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
244100
277129
33030
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case608-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
2310316
2392808
82493
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si193
8
M
Autism
ADOS score: 8. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 84; Non-verbal IQ, 106.
1230901
1971908
741008
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11851.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
533317
1413316
880000
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11999.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
533317
1413316
880000
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12940.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
2263316
2773316
510001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13739.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
2263316
2773316
510001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13783.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
1053316
1433316
380001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13845.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
1863316
2543316
680001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13949.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
1993316
2343316
350001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13988.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
63317
373317
310001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14018.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
2243316
2743316
500001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU020103
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
1273316
1543316
270001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU082505
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
2173316
2433316
260001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1765302
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
1043316
2343316
1300001
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-12989_64063
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-2261786327
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-AU01303
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-Owely_E016
NA
ASD
NA
NA
2531464
2531847
384
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU018003
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU018004
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU036403
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU036404
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU077105
NA
ASD
NA
NA
2531464
2531847
384
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU082803
NA
ASD
NA
NA
2531464
2531847
384
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU0913301
NA
ASD
NA
NA
2531464
2531847
384
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU0913302
NA
ASD
NA
NA
2531464
2531847
384
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU1070302
NA
ASD
NA
NA
2531464
2531847
384
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU1135202
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU1407301
NA
ASD
NA
NA
2531464
2531847
384
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU1427302
NA
ASD
NA
NA
2531464
2531847
384
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU1427303
NA
ASD
NA
NA
2531464
2531847
384
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU1601301
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU1601302
NA
ASD
NA
NA
1898506
1899238
733
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case18011
NA
NA
ASD/autism
NA
NA
19366
1616807
1597442
GRCh38
Deletion
Yes
guo_12_ASD_discovery_cases-case1
7 yrs.
M
Autism
Diagnosed with autism at 3 years of age. Total Autism Behaviour Checklist score of 110. Birth/neonatal history: born full-term following C-section. Developmental milestones: developmental regression noted at 30 months; raising head at 4 months, turning over at 7 months, sitting alone at 8 months, creeping at 10 months, standing alone at 12 months, walking alone at 14 months, jogging at 24 months, jumping at 36 months; laughing at 5 months, starting to learn language at 12 months, speaking first single word at 18 months, speaking first phrase at 36 months, speaking first sentence at 44 months; eye contact with relatives at 4 months, following moving objects with eyes at 5 months, waving hand goodbye at 12 months, plaing simple games with adults at 18 months, control of faeces and urine at 24 months. Behavioral/psychiatric evaluation: repetition of sinlge words or phrases; evasion of eye contact; inattention to surrounding environment; difficulty following simple instructions; restricted interests; repetitive behaviors (running back and forth alone); poor mimicking abilities; difficulty playing with toys properly and often destroying them; insensitivity to pain; absence of sense of danger; no self-injurious behavior. Epilepsy/seizures: none. Visual and auditory evalation: no deficits. Family history: only child of healthy, unrelated parents with no family history of autism.
1377342
2979979
1602638
GRCh38
Duplication
Yes
guo_12_ASD_discovery_cases-case1
7 yrs.
M
Autism
Diagnosed with autism at 3 years of age. Total Autism Behaviour Checklist score of 110. Birth/neonatal history: born full-term following C-section. Developmental milestones: developmental regression noted at 30 months; raising head at 4 months, turning over at 7 months, sitting alone at 8 months, creeping at 10 months, standing alone at 12 months, walking alone at 14 months, jogging at 24 months, jumping at 36 months; laughing at 5 months, starting to learn language at 12 months, speaking first single word at 18 months, speaking first phrase at 36 months, speaking first sentence at 44 months; eye contact with relatives at 4 months, following moving objects with eyes at 5 months, waving hand goodbye at 12 months, plaing simple games with adults at 18 months, control of faeces and urine at 24 months. Behavioral/psychiatric evaluation: repetition of sinlge words or phrases; evasion of eye contact; inattention to surrounding environment; difficulty following simple instructions; restricted interests; repetitive behaviors (running back and forth alone); poor mimicking abilities; difficulty playing with toys properly and often destroying them; insensitivity to pain; absence of sense of danger; no self-injurious behavior. Epilepsy/seizures: none. Visual and auditory evalation: no deficits. Family history: only child of healthy, unrelated parents with no family history of autism.
1120357
1308450
188094
GRCh38
Duplication
No
guo_17_ASD_discovery_cases-caseM8560
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
1120357
2979979
1859623
GRCh38
Duplication
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-204-03
N/A
F
ASD
1044801
1231400
186600
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-case15D2584
16 mos. 22 days
M
Developmental delay
2306128
2380660
74533
GRCh38
Deletion
No
hnoonual_17_ASD_discovery_cases-caseTM4-3
N/A
M
ASD
Macrocephaly
63289
222610
159322
GRCh38
Duplication
No
hu_15_ASD/DD/ID/EP_discovery_cases-case1
5 yrs.
M
ASD and developmental delay
Reasons for referral: ASD, developmental delay. Other features: tantrums, aggression. Family history: father with learning disability; mother with seizures, hearing loss, and mental health issue.
518935
1746508
1227574
GRCh38
Deletion
No
hu_15_ASD/DD/ID/EP_discovery_cases-case10
6 yrs.
F
Developmental delay
Reasons for referral: developmental delay. Other features: short stature, reflux, joint hypermobility, microcephaly, low anterior hairline, 2nd and 3rd toe syndactyly. Family history: one sister with ASD and microcephaly; another sister with microcephaly; brother with ASD; paternal half-brother with ADHD; both parents with microcephaly; paternal grandmother with seizures.
1107602
1307200
199599
GRCh38
Duplication
No
hu_15_ASD/DD/ID/EP_discovery_cases-case11
7 yrs.
M
ASD, developmental delay, and seizures
Reasons for referral: ASD, developmental delay, and seizures. Other features: learning disability, ADHD, oppositional defiant disorder (ODD), ventricular septal defect, feeding difficulties, failure to thrive, brachycephaly, upswept anterior hairline, unusual large hallux, short second toe. Family history: father with bipolar disorder and ADHD; brother with ADHD and ODD; paternal twin half-sisters with developmental delay; mother with bipolar disorder and migraines; maternal grandaunt with migraines.
1155938
1645532
489595
GRCh38
Duplication
Yes
hu_15_ASD/DD/ID/EP_discovery_cases-case12
9 yrs.
F
Learning disability
Reasons for referral: learning disability. Other features: none. Family history: father with intellectual disability, ADHD, bipolar disorder, and depression; mother with bipolar disorder and depression; one sibling with learning disability; sister with intellectual disability.
1172683
1453643
280961
GRCh38
Duplication
No
hu_15_ASD/DD/ID/EP_discovery_cases-case13
15 yrs.
F
ADHD, bipolar disorder, and OCD
Reasons for referral: Obesity, ADHD, bipolar disorder. Other features: OCD, migraine, scoliosis, fibromyalgia, rheumatoid arthritis, asthma, irritable bowel syndrome. Family history: mother with migraines, fibromyalgia, and psychiatric problem; twin brother and sister with bipolar disorder; maternal half-sister with ADHD and psychiatric problems; paternal grandmother with migraines.
227058
1113821
886764
GRCh38
Duplication
Yes
hu_15_ASD/DD/ID/EP_discovery_cases-case14
16 yrs.
M
Developmental delay, seizures, ADHD, and OCD
Reasons for referral: developmental delay, seizures, and dysmorphic features. Other features: ADHD, OCD, sensorineural heaing loss, asymmetric face, left esotropia, bilateral ptosis, high-arched palate, short stature, single palmar creases, 5th finger clinodactyly, cranial nerve palsy, micropenis. Family history: father with depression; paternal cousin with ASD.
396611
2448586
2051976
GRCh38
Duplication
No
hu_15_ASD/DD/ID/EP_discovery_cases-case2
3 yrs.
M
Developmental delay and seizures
Reasons for referral: developmental delay, seizures. Other features: nystagmus, macrocephaly, frontal bossing, down-slanting palpebral fissures, high-arched palate. Family history: paternal aunt with intellectual disability; maternal aunt, cousin, grandmother, and grandaunt with seizures.
1046605
1868158
821554
GRCh38
Deletion
No
hu_15_ASD/DD/ID/EP_discovery_cases-case3
11 yrs.
M
Developmental delay, intellectual disability and seizures
Reasons for referral: developmental delay, intellectual disability, and seizures. Other features: strabismus, regression in skills, headache. Family history: father with learning disability; mother with seizures, schizophrenia, migraines; multiple members of the maternal side with learning disability, ASD, seizures, depression, anxiety, bipolar disorder, and schizophrenia.
1107602
1201557
93956
GRCh38
Deletion
No
hu_15_ASD/DD/ID/EP_discovery_cases-case4
6 yrs.
M
ASD and developmental delay
Reasons for referral: ASD and developmental delay. Other features: tantrums. Family history: maternal grandmother with depression.
1210639
1317407
106769
GRCh38
Deletion
No
hu_15_ASD/DD/ID/EP_discovery_cases-case5
2 yrs.
M
Developmental delay and seizures
Reasons for referral: developmental delay and seizures. Other features: schizencephaly, hydrocephaly, hydronephrosis, diabetes insipidus, hypothyroidism, right-sided spasticity and hemiparesis, and cardiomyopathy. Family history: adopted into family; adopted sibling with schizophrenia.
1250279
1366144
115866
GRCh38
Deletion
No
hu_15_ASD/DD/ID/EP_discovery_cases-case6
6 yrs.
F
Seizures
Reasons for referral: seizures. Other features: abnormal EEG. Family history: father, who carries CNTN6 deletion, is phenotypically normal; sister with CNTN6 deletion has seizures; mother and brother (both without CNTN6 deletion) are phenotypically normal; maternal aunt with seizures.
1305608
1430846
125239
GRCh38
Deletion
Yes
hu_15_ASD/DD/ID/EP_discovery_cases-case7
1 yr.
M
Heart block
Reasons for referral: heart block. Other features: none. Family history: no family history of neurodevelopmental and/or neuropsychiatric disorders.
1107602
1402542
294941
GRCh38
Deletion
No
hu_15_ASD/DD/ID/EP_discovery_cases-case8
7 yrs.
M
Developmental delay, seizures, and ADHD
Reasons for referral: developmental delay and seizures. Other features: ADHD, disruptive behavior disorders, abnormal EEG, macrocephaly, epicanthal folds, high and wide nasal bridge, broad nasal tip, large central incisors. Family history: mother phenotypically normal; father with schizophrenia and alcoholism; sister with developmental delay; maternal half-brother with ADHD, hearing loss, and anxiety.
459953
1178775
718823
GRCh38
Duplication
Yes
hu_15_ASD/DD/ID/EP_discovery_cases-case9
8 yrs.
F
Developmental delay
Reasons for referral: developmental delay. Other features: short stature, reflux. Family history: father with depression; mother with ADHD and anxiety.
838979
1380600
541622
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000038
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
76052
229025
152974
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000128
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2301168
2754945
453778
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000781
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1450978
2754945
1303968
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000894
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
868334
1341994
473661
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000954
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2220949
2920945
699997
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001041
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137074
190872
53799
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001259
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
996747
1824012
827266
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001652
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
171028
1018461
847434
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001671
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
244617
1209150
964534
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20521
1209209
1188689
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002249
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
245817
1097280
851464
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002283
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
63843
1209209
1145367
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002436
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
63843
325628
261786
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002521
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2558754
2700464
141711
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003942
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1823953
2644088
820136
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003996
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2057253
2475366
418114
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004050
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
868134
1342135
474002
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004392
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1155739
1984726
828988
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004528
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
296016
1562138
1266123
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004673
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2301168
3219257
918090
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004764
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2349455
2431514
82060
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004893
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2021022
2529641
508620
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004952
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
868134
1342135
474002
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005296
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1450978
2754945
1303968
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005327
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
624574
1341994
717421
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005354
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1260116
1561997
301882
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005368
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
996747
2418562
1421816
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case3021
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.
82010
120321
38312
Unknown
Duplication
No
kashevarova_14_ASD/ID_discovery_cases-caseF_II-4
14 yrs.
F
Intellectual disability
Birth/neonatal history: born at 33 weeks gestation; birth weight of 2000 g (3rd %ile), length of 48 cm (10th %ile), Apgar score of 7. Language and communication evaluation: dyslexia and dysarthria; readily answered questions, but answers were abrupt and primitive; occasionally did not hear questions or provided irrelevant answer. Motor and musculoskeletal evaluation: bilateral clinodactyly of 5th finger, bilateral sandal gap, X-shaped legs. Behavioral/psychiatric evaluation: clear consciousness, normally calm, friendly, and shy; occasionally hysterical and aggressive; emotional reactions generally monotnous and primitive; general knowledge limited to everyday interests, could not think abstractly; became easily tired and weakened. Vision evaluation: moderate hyperopia, severe amblyopia. Additional medical history: thyriod hypoplasia, bilateral pyelectasia, right nephroptosis. Dysmorphic features: microcephaly, long face, epicanthus, wide nasal bridge, small ears, short philtrum, crowding of teeth, peg-shaped lateral incisors. Growth parameters: height of 145 cm (3rd %ile), weight of 40 kg (3rd %ile), and head circumference of 48 cm (3rd %ile) at age of 14 years. Family history: affected brother (caseF_11-5); orphan (origin of CNV N/A).
IQ of 54
1155939
1451037
295099
GRCh38
Deletion
Yes
kashevarova_14_ASD/ID_discovery_cases-caseF_II-5
15 yrs.
M
Intellectual disability
Birth/neonatal history: mother had syphilis, pyelonephritis, and bronchitis during pregnancy; case born at 33 weeks gestation with birth weight of 1550 g (3rd %ile) and length of 44 cm (3rd %ile); Apgar score of 6 and 7; born with umbilical cord entanglement; treated for syphilis after discharge from hospital. Developmental milestones: physical and psychomotor delays. Language and communication evaluation: dysarthria. Motor and musculoskeletal evaluation: bilateral clinodactyly of 5th finger, bilateral sandal gap, scoliosis; radiogrpah of wrist joints at age fo 14 years revealed a bone age of 6-7 years. Behavioral/psychiatric evaluation: exhaustible attention, reduced short-term and long-term memory, low adaptive ability. Epilepsy/seizures: absence epilepsy. Additional medical history: hypoplastic left lobe of thyroid gland, testicular hypoplasia. Dysmorphic features: towered skull, frontal bossing, antimongoloid slant, epicanthus, wide nasal bridge, large nose, anteverted nostrils, low-set ears, gothic palate, irregular teeth growth, non-malignant pigmented nevus in the right inguinal region, hypertrichosis. Growth parameters: short stature; height of 140 cm (3rd %ile), weight of 34 kg (3rd %ile), and head circumference of 51 cm (3rd %ile) at age of 15 years. Family history: affected sister (caseF_11-4); orphan (origin of deletion N/A).
IQ of 49
1155939
1451037
295099
GRCh38
Deletion
Yes
kashevarova_14_ASD/ID_discovery_cases-caseK_III-1
9 yrs.
M
Intellectual disability
Birth/neonatal history: born at 42 weeks gestation; birth weight of 3300 g (50th %ile), length of 53 cm (90th %ile), and head circumference of 35 cm (50th %ile); Apgar scores of 7. Developmental milestones: displayed physical and psychomotor developmental delays (sitting at 8 months, walking at 1 year 6 months, first words at 2 years, phrases at 5 years). Language and communication evaluation: speech delay; dysarthria. Motor and musculoskeletal evaluation: impaired fine motor skills, hyperkineses, hypermobility of small and large joints, hypotonia, scoliosis. Behavioral/psychiatric evaluation: hyperactivity until 1 year of age; attention deficit hyperactivity disorder. Brain imaging: computer tomography of the brain did not reveal organic lesions. Additional medical history: cardiologic examination revealed additional chord in left ventricle. Dysmorphic features: dolichocephaly, unusual and coarse hair, low posterior hairline, direct high and widely-set eyebrows, upslanting palpebral fissures, covergent strabismus, epicanthus, wide nasal bridge, small nose, low-set protruding ears with malformed helices, macrostomia, micrognathia, short philtrum, high palate, short neck, cryptorchidism, hypospadias. Growth parameters: height of 131 cm (50th %ile), weight of 25 kg (50th %ile), and head circumference of 50 cm (3rd %ile) at age of 9 years. Family history: 3p26.3 microduplication is also present in case's father and paternal grandmother, both of whom are apparently healthy.
IQ of 47
684961
1451037
766077
GRCh38
Duplication
Yes
kashevarova_14_ASD/ID_discovery_cases-caseN_II-1
14 yrs.
F
Autism
Case diagnosed with atypical autism (diagnostic tools N/A). Birth/neonatal history: uneventful pregnancy and birth; birth weight of 3220 g (50th %ile), birth height of 52 cm (75th %ile). Developmental milestones: slightly delayed motor development (walking at age of 1 year 4 months, but gait was unsteady for a long time); slightly delayed speech development. Motor and musculoskeletal evaluation: hypermobile joints (also present in father and paternal grandmother); good balance; low stamina during balance performance test. Behavioral/psychiatric evaluation: some anxiety. Brain imaging: normal brain MRIs at age of 6 years and 14 years. Additional medical history: intermediate constipation. Dysmorphic features: none. Family history: father and paternal grandmother with hypermobile joints.
IQ of 40 at age of 13 years
1386701
1658638
271938
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11679.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1220686
1402486
181801
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11851.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
1148008
1403418
255411
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11855.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1227817
1385797
157981
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12505.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
1220686
1402486
181801
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12783.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
1220686
1385797
165112
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13645.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
390700
405711
15012
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13739.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2571503
2745697
174195
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13783.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
1148008
1403418
255411
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14018.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2571503
2745697
174195
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14196.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
1325814
1385797
59984
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14412.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1148008
1403418
255411
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0146
11 yrs.
M
ASD
Family history: positive for MDD.
IQ > 70
54166
2405982
2351817
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD0210
21 yrs.
M
ASD
Behavioral/psychiatric evaluation: psychiatric symptoms. Congenital and developmental phenotypes: low birth weight. Family history: positive for schizophrenia (SCZ).
IQ > 70
1185337
1255844
70508
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0215
21 yrs.
M
ASD, ID, epilepsy/seizures
Developmental milestones: motor delay. Behavioral/psychiatric evaluation: sensory hypersensitivity. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Congenital and developmental phenotypes: threatened premature delivery. Family history: negative.
Severe intellectual disability
1133359
1192637
59279
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0733
10 yrs.
F
ASD, ADHD
Behavioral/psychiatric evaluation: ADHD, sensory hypersensitivity. Congenital and developmental phenotypes: external strabismus. Family history: negative.
IQ > 70
1247669
1285156
37488
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0943
11 yrs.
F
ASD
Family history: positive for ASD.
IQ > 70
1204527
1310468
105942
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0029
41 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
1264992
1295956
30965
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0146
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
54165
2405982
2351818
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0210
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
1185336
1255844
70509
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD0215
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
1133358
1192637
59280
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD0733
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
1247668
1285156
37489
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD0943
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
1204526
1310468
105943
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0614
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
1310467
2626220
1315754
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1617
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
1204526
1303560
99035
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0029
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
1264991
1295956
30966
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3374
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
1204526
1303560
99035
GRCh38
Deletion
Yes
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
2375807
2445513
69707
GRCh38
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case3
8 yrs.
M
Intellectual disability
Intellectual disability
241067
242073
1007
GRCh38
Deletion
No
leite_22_DD/ID_discovery_cases-case071
2 yrs.
F
Developmental delay
Global developmental delay, multiple stigmas
543434
1438871
895438
GRCh38
Triplication
No
leppa_16_ASD_discovery_cases-AU1765302
N/A
M
ASD
1049316
2335316
1286001
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-caseDY34
NA
M
Epilepsy + autistic features
Phenotype: s-CSWSS. Seizure Characteristics: Awake absences. Autistic features: Yes (severe). ADHD features: Yes. Other features: Right frontal/temporal/insular cortical thickening. Dysmorphism..
Initial cognitive development: Delayed. Cognitive regression: No.
1414 614
1620145
206000
GRCh37
Duplication
Yes
lesca_12_EP_discovery_cases-caseED15
NA
F
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: CPS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: No.
727749
758700
30952
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11999.p1
NA
F
ASD
NA
NA
526265
1414808
888544
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
N/A
M
ASD and developmental delay
Autism/autistic behavior, developmental delay
485613
543228
57616
GRCh38
Deletion
No
li_16_ASD/DD_discovery_cases-case1
16 mos.
M
ASD and developmental delay
Autism evaluation using ADOS-Toddler Module revealed social affect score of 20, a restricted and repetitive behavior score of 5, and an overall score of 25, indicating diagnosis of moderate-to-severe ASD; diagnosis of ASD according to DSM-V criteria. Birth/neonatal history: born at term by C-section with hypoxia; Apgar scores of 6 and 9 at 1 and 5 min, respectively; birth weight 3450 g (50th-80th %ile); suffered through a feeding disorder from birth and still continues to exhibit eating refusal and vomiting problems. Developmental milestones: general developmental delay; walking at 15 months; delayed speech, with first babbling at approximately 8 months of age. Lanaguge and communication evaluation: unable to consciously generate words. Behavioral/psychiatric evaluation: appeared to exhibit gaze avoidance and did not respond when his name was called; preferred to look at traffic lights and exit signs; continuously knocked the desk in the examination room with hands or other objects. EEG: normal. Brain imaging: unremarkable brain MRI. Dysmorphic features: mild hypertelorism, short mandible, protuberant forehead. Growth parameters: weight of 9.95 kg (10th-20th %ile) and height of 80.1 cm (20th-50th %ile) at 16 months of age. Family history: first child of healthy, non-consanguineous parents; mother showed no signs of developmental delay and scored within the normal range on the Broad Autism Phenotype Questionnaire (BAPQ) and Symptom Checklist-90 (SCL-90); no family history of developmental or psychiatric disorders, except for schizophrenia in maternal grandmother. Karyotype: 46,XY,inv(9)(p12q13).
Cognitive and developmental evaluation using Bayley Scales of Infant Development-2 showed cognitive skills, language skills, and motor skills were well behind for his age (MDI <50; PDI=66)
339002
1026103
687102
GRCh38
Duplication
Yes
mahjani_21_ASD_discovery_cases-case231
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
665572
1987145
1321574
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown147
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)
52266
1596828
1544563
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0068-003
NA
M
ASD
NA
NA
1704264
1778550
74287
GRCh38
Duplication
Yes
mercati_16_ASD_discovery_cases-probandAU-ANG-016
N/A
M
ASD and ID
Case presents with abnormal hypersensitivity to sound and abnormal motor coordination ability. Family history: father of proband (positive for 3p26.3/CNTN6 deletion) presents with ASD; brother of proband (positive for 3p26.3/CNTN6 deletion) presents with ASD, ID, and abnormal motor coordination ability.
Intellectual disability
815642
1386951
571310
GRCh38
Deletion
No
mercati_16_ASD_discovery_cases-probandAU-FRA-035
13 yrs.
F
ASD
Case diagnosed with ASD based on ADI-R and ADOS assessment at age of 6 years and meeting DSM-5 criteria. ADI-R evaluation results: social domain score of 23 (cut-off of 10); communication domain score of 18-12 (verbal cut-off of 8; nonverbal cut-off of 7); repetitive domain score of 4 (cut-off 3). ADOS evaluation results: communication domain score of 9 (cut-off of 5); social interaction domain score of 14 (cut-off of 6); total score of 23; interest and behaviors score of 1. Case presents with abnormal hypersensitivity to sound and abnormal motor coordination ability. Birth/neonatal history: normal course of pregnancy; dystocic delivery; APGAR scores of 9 and 10 at 1 and 10 min, respectively; brith height of 49 cm, weight of 2600 g, head circumference N/A. Developmental milestones: first symptoms of ASD at 18 months; walking at 14 months, first words at 14 months, first sentence at 40 months; developmental coordination disorder. Behavioral/psychiatric evaluation: single phobia. Ear/nose/throat evaluation: painful hyperacusis, auditory acuity tests within normal range, shortened wave I-V interpeak latency on auditory brainstem response test. Family history: 3p26.3/CNTN6 deletion inherited from father with ASD; 3p26.3/CNTN6 deletion not present in proband's brother affected with ASD and abnormal motor coordination ability.
Full IQ score of 84 (Raven's Standard Progressive Matrices)
1103565
1740055
636491
GRCh38
Deletion
No
mercati_16_ASD_discovery_cases-probandAU-RD-183
13 yrs.
M
ASD
Case diagnosed with ASD based on ADI-R assessment at age of 3 years and meeting DSM-5 criteria. ADI-R evaluation results: social domain score of 13 (cut-off of 10); communication domain score (nonverbal) of 11 (cut-off of 7); repetitive domain score of 4 (cut-off of 3). Case presents with abnormal hypersensitivity to sound and abnormal motor coordination ability. Birth/neonatal history: normal course of pregnancy; eutocic delivery; APGAR scores of 10 and 10 at 1 and 10 min, respectively; brith height of 51 cm, weight of 2960 g, head circumference of 33.5 cm. Developmental milestones: walking at 14 months; no functional langauge; developmental coordination disorder. Behavioral/psychiatric evaluation: ADHD. Ear/nose/throat evaluation: painful hyperacusis, auditory acuity tests within normal range, shortened wave I-V interpeak latency on auditory brainstem response test. Family history: 3p26.3/CNTN6 deletion inherited from unaffected father; mother with history of major depressive disorder (MDD) and anxiety disorder.
Full IQ score of 96 (Wechsler)
1103565
1200412
96848
GRCh38
Deletion
No
mercati_16_ASD_discovery_cases-probandAU-RD-192
13 yrs.
M
ASD
Case diagnosed with ASD based on ADI-R and ADOS assessment at age of 3 years and meeting DSM-5 criteria. ADI-R evaluation results: social domain score of 28 (cut-off of 10); communication domain score (nonverbal) of 11 (cut-off of 7); repetitive domain score of 4 (cut-off of 3). ADOS evaluation results: communication domain score of 7 (cut-off of 5); social interaction domain score of 7 (cut-off of 6); total score of 14. Case presents with abnormal hypersensitivity to sound and abnormal motor coordination ability. Birth/neonatal history: normal course of pregnancy; eutocic delivery; APGAR scores of 10 and 10 at 1 and 10 min, respectively; brith height of 51 cm, weight of 3500 g, head circumference of 36 cm. Developmental milestones: first symptoms of ASD at 18 months; walking at 13 months, first words at 24 months, first sentence at 54 months; developmental coordination disorder. Behavioral/psychiatric evaluation: ADHD. Ear/nose/throat evaluation: painful hyperacusis, auditory acuity tests within normal range, auditory brainstem response test within normal range. Family history: 3p26.3/CNTN6 deletion inherited from unaffected mother; deletion absent in unaffected father and unaffected female sibling.
Full IQ score of 93 (Raven's Standard Progressive Matrices)
1294453
1327156
32704
GRCh38
Deletion
No
monteiro_19_ASD_discovery_cases_case6
10 yrs.
F
ASD and intellectual disability
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: present. Growth parameters: macrocephaly. Family history: 3p26.3 deletion inherited from healthy father.
Intellectual disability
32241
278892
246652
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case125603
N/A
F
DCD
Ancestry: Chinese. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
2211267
2228884
17618
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam1137Proband10782
N/A
M
ASD
Additional clinical profile info N/A
No ID
2305838
2333858
28021
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam1181Proband11386
N/A
N/A
ASD
Additional clinical profile info N/A
ID
1698040
1772667
74628
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam1295Proband11355
N/A
N/A
ASD
Additional clinical profile info N/A
ID
1689489
1772667
83179
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam755Proband8403
N/A
M
ASD
Additional clinical profile info N/A
ID
1424908
1628617
203710
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC39167
N/A
F
DD/ID/MCA
Database: Signature. Indication for study: Conditions due to anomaly of unspecified chromosome
27274
1171093
1143820
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1108_6
NA
F
ASD
NA
NA
1537586
1680597
143012
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5065_3
NA
M
Autism
Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
Below average nonverbal IQ (<1%ile)
1703098
1770268
67171
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5081_4
NA
M
ASD
NA
NA
1074220
1200412
126193
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5146_4
NA
M
ASD
NA
NA
295862
336386
40525
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5241_3
NA
M
Autism
Average language (47%ile), no language delay, no epilepsy, right 2-3 toe syndactyly, right ear malformation
Low nonverbal IQ (9%ile)
447498
1235193
787696
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5267_3
NA
M
Autism
No language delay, no epilepsy, no dysmorphic features
Average IQ
3081642
3167834
86193
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5269_3
NA
M
Autism
Delayed language development but average language (53%ile), no epilepsy, no dysmorphic features
Above average IQ
2628024
2859963
231940
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5355_3
NA
M
Autism
No language delay, no epilepsy, integrative sensory dysfuncJon
Average IQ
1961820
2134481
172662
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5391_3
NA
M
ASD
NA
NA
1251658
1290513
38856
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5456_3
NA
M
ASD
NA
NA
40338
91729
51392
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case16095_1571145001
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
1680597
1716405
35809
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case4374_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
19366
1616807
1597442
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case102830
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
1972487
2152634
180148
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case143189
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
531341
546467
15127
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case155493L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
75872
407038
331167
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60921
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
3096574
3184571
87998
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60956
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
310149
353820
43672
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case88032
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
428860
486503
57644
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case88794
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
227164
1489179
1262016
Unknown
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH1
11 days
M
Hypotonia and dysmorphic features
Patient died at 11 days of age and presented with hypotonia, prominent forehead with bossing, low-set ears , flat nasal bridge, and hypertelorism. Family history: no family history of neurodevelopmental disorders.
1126207
1245818
119612
GRCh38
Deletion
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH2
16 yrs.
M
Developmental delay
Developmental milestones: developmental delay. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: Scoliosis. Brain imaging: delayed myelination. Dysmorphic features: frontal narrowing, large ears with hypoplastic earlobes. Growth parameters: low weight, microcephaly. Family history: maternal half-brother with developmental delay, learning disabilities, and absent speech.
815427
1373035
557609
GRCh38
Deletion
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH3
14 yrs.
M
ASD, developmental delay, and seizures
Patient died at 16 years of age. Developmental milestones: developmental delay. Motor and muscloskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures. Growth parameters: failure to thrive. Family history: no family history of neurodevelopmental disorders.
1348644
1360376
11733
GRCh38
Deletion
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH4
4 yrs.
M
ASD, developmental delay, and ADHD
Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: ASD, ADHD. Family history: mother with learning disability, maternal half-brother with ADHD, maternal half-sister with a history of learning disabilities, maternal aunt with learning disabilities.
1097566
1619436
521871
GRCh38
Duplication
Yes
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH5
4 yrs.
M
Developmental delay and ADHD
Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: ADHD. Family history: no family history of neurodevelopmental disorders.
656712
1149890
493179
GRCh38
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH6
7 yrs.
F
MCA
Additional medical history: renal failure. Family history: no family history of neurodevelopmental disorders.
621943
1101740
479798
GRCh38
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH1
12 yrs.
M
ASD and ADHD
Behavioral/psychiatric evaluation: ASD, ADHD, pervasive developmental disorders, defiance. Growth parameters: poor weight gain, short stature. Family history: mother with anxiety and depression.
838979
1402542
563564
GRCh38
Deletion
Yes
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH10
16 yrs.
F
ASD and Tourette syndrome
Developmental milestones: developmental regression. Motor and musculoskeletal evaluation: progressive muscle weakness, dysarthria, ataxia, joint pain, joint hypermobility, scoliosis. Behavioral/psychiatric evaluation: ASD, Tourette syndrome. Additional medical history: HLA-B27-positive, mitral valve prolapse. Dysmorphic features: high forehead, wide face. Family history: parents are unaffected; paternal first cousin with ADHD and dyslexia, paternal aunt with ADHD, paternal great aunt with intellectual disability.
838979
1380600
541622
GRCh38
Duplication
Yes
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH11
9 yrs.
M
Developmental delay, intellectual disability, and OCD
Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: apraxia. Behavioral/psychiatric evaluation: OCD. Dysmorphic features: notched front teeth, prominent ears. Family history: paternal family members with bipolar disorder.
Moderate intellectual disability
1107602
1270871
163270
GRCh38
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH12
5 mos.
M
MCA
Additional medical history: pulmonary atresia with intact ventricular septum. Family history: mother with ADHD.
1142342
1418391
276050
GRCh38
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH13
6 yrs.
M
ASD, developmental delay, and ADHD
Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: ASD, ADHD. Additional medical history: Coffin-Lowry syndrome, hypopituitarism. Growth parameters: short stature, low weight. Family history: father with ADHD and learning disabilities.
1082022
1341825
259804
GRCh38
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH2
10 days
F
MCA
Patient died at 18 days of age and presented with abnormal EEG following cardiogenic shock, oligohydramnios and renal insufficiency, tricuspid and pulmonary atresia, and hypoplastic right ventricle. Family history: father with Asperger syndrome, paternal great-great aunt and her child both with developmental delay and intellectual disability, and a maternal first cousins with epilepsy.
1082022
1201368
119347
GRCh38
Deletion
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH3
13 yrs.
F
ASD
Behavioral/psychiatric evaluation: ASD and generalized anxiety disorder. Family history: mother with anxiety and depression.
711322
1172724
461403
GRCh38
Deletion
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH4
32 mos.
M
Developmental delay and ADHD
Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: ADHD, anxiety. Additional medical history: tetralogy of Fallot, pulmonary atresia, peripheral pulmonary artery stenosis, hypospadias. Family history: no family history of neurodevelopmental disorders.
684960
1126108
441149
GRCh38
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH5
5 yrs.
F
Developmental delay
Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: hypotonia, short fourth and fifth toes. Additional medical history: atrial septal defect, ventricular septal defect, pulmonary valve and artery stenosis, congenital bronchomalacia, asthma. Dysmorphic features: hypertelorism, short and upslanting palpebral fissures, tall forehead, flat nasal bridge. Growth parameters: microcephaly. Family history: mother with bipolar disorder, ADHD, learning disabilities, dyslexia, seizures, and unilateral congenital hearing loss; father with learning disabilities, dyslexia, unilateral congenital hearing loss, stroke, and depression; paternal cousin with ADHD and learning disabilities; paternal uncle committed suicide; uncle with unilateral congenital hearing loss; maternal uncle with OCD, attention deficit disorder, depression, dyslexia, and unilateral congenital hearing loss; maternal first cousin with ADHD; maternal second cousin with seizures; maternal great aunt with schizophrenia.
1305608
1956063
650456
GRCh38
Duplication
Yes
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH6
17 mos.
F
Developmental delay
Developmental milestones: developmental delay. Family history: no family history of neurodevelopmental disorders.
684960
1126108
441149
GRCh38
Duplication
Yes
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH7
60 yrs.
F
Intellectual disability and ADHD
Behavioral/psychiatric evaluation: ADHD, depression. Additional medical history: Parkinson's disease. Family history: no family history of neurodevelopmental disorders.
Intellectual disability
1107602
1270871
163270
GRCh38
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH8
21 mos.
M
Seizures and speech delay
Developmental milestones: speech delay. Motor and musculoskeletal evaluation: 2-3 toe syndactyly, clinodactyly. Epilepsy/seizures: seizures. Family history: father with a history of childhood seizures and speech problems, sister with speech delay and seizures, paternal first cousin once removed with intellectual disability.
680294
1142466
462173
GRCh38
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH9
21 mos.
M
ASD
Language and communication evaluation: mixed receptive-expressive language disorder. Behavioral/psychiatric evaluation: ASD. Family history: father with dyslexia, mother is unaffected.
1107602
1270871
163270
GRCh38
Duplication
Yes
roohi_09_ASD_discovery_cases-subject1
7 yr 9 mo
M
ASD
Speech delay at 2 years, normal MRI and EEG at 3 years, ADOS scores of communication=3 and social=6 at 6 years, dysmorphic features. No seizures, regression, self-injurious behaviors, or auditory/visual deficits
NA
2003928
2795025
791097
Unknown
Duplication
Yes
roohi_09_ASD_discovery_cases-subject2B
15 yr 11 mo
M
ASD
Failed to develop speech until 4 years, developed seizures at 15 years, social deficits, no significant dysmorphism. No regression, self-injurious behaviors, or auditory/visual deficits,
NA
2205425
2859375
653950
Unknown
Deletion
Yes
roohi_09_ASD_discovery_cases-subject2C
10 yr 11 mo
F
ASD
Speech delay at 2 years, ADOS scores of communication=4 and social=6 at age 4, significant dysmorphic features. No regression, self-injurious behaviors, or auditory/visual deficits.
NA
2205425
2859375
653950
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case13744
NA
NA
ASD
NA
NA
46141
343406
297265
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case16123
NA
NA
ASD
NA
NA
1694496
2228941
534446
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case20491
NA
NA
ASD
NA
NA
955368
1785005
829637
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: possible diagnosis. Seizures: N/A.
Developmental delay: yes. Intellectual disability: Possibly mild.
1051243
1386951
335709
GRCh38
Duplication
No
salyakina_11_ASD_discovery_cases-37994_001
M
Autism
Delayed milestones: sitting, phrases, nonverbal. Seizures.
40338
87014
46677
GRCh38
Duplication
Yes
salyakina_11_ASD_discovery_cases-37994_103
M
Autism
Limited functional language, regression of social engagement at 28 months
40338
87014
46677
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
134585
135633
1049
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
1871687
1884167
12481
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11057.p1
8.7
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
1662983
1665829
2847
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11096.p1
13.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
1740840
1742201
1362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
1643126
1649406
6281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
1876225
1878453
2229
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11167.p1
11
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
40338
85994
45657
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11196.p1
12.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
65943
110106
44164
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
1162907
1174934
12028
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
844111
1402559
558449
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11294.p1
6.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
255638
317477
61840
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11441.p1
7.8
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
19366
21733
2368
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
949070
955034
5965
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11584.p1
11.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
40338
91729
51392
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
853663
906922
53260
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11634.p1
5.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 56; verbal IQ, 63
3076016
3081011
4996
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
1202750
1988784
786035
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
1741650
1745897
4248
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11724.p1
10.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11731.p1
9.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
1876225
1878453
2229
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
2170634
2238551
67918
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11851.p1
8.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 92; verbal IQ, 121
528929
1412012
883084
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
815642
1385395
569754
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11928.p1
12.6
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
1887982
1919939
31958
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
528929
568894
39966
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
623884
1412012
788129
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
2582989
2608189
25201
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
1871687
1884167
12481
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
2969792
2974430
4639
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
411856
419080
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
1871687
1884167
12481
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
40338
87014
46677
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12447.p1
4.6
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 60; verbal IQ, 45
3058931
3091458
32528
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12456.p1
14.3
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
40338
78638
38301
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
1105517
1986324
880808
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
1876225
1878453
2229
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12596.p1
4.9
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
1947732
1969657
21926
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12624.p1
7.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 47; verbal IQ, 27
1797290
1884421
87132
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
949070
955034
5965
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12652.p1
8.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
1571597
1678376
106780
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12715.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
1074220
1090040
15821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
1741650
1745897
4248
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
991351
1004399
13049
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
3311029
3360544
49516
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
1874979
1878453
3475
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13072.p1
15.5
F
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
2619991
2720388
100398
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
3069363
3069857
495
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
1840507
1920852
80346
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case21
1 yr.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability
2608141
2619289
11149
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case7
3 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
2305500
2686846
381347
GRCh38
Deletion
No
schmitz-abe_20_ASD_discovery_cases-caseAU-18101
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion did not segregate with ASD in this family.
1740840
1745940
5101
GRCh38
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case95
NA
F
Developmental delay and intellectual disability
Global developmental delay, speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.
Mild/moderate intellectual disability
2258694
2329569
70876
GRCh38
Deletion
No
tropeano_16_ASD/NDD_replication_cases-case26
< 4 years
M
Developmental delay
Developmental delay, Learning disability
Learning disability
2181030
2497320
316291
GRCh38
Deletion
No
van_daalen_11_ASD_discovery_cases-M3
7 yrs. 2 mos.
M
ASD
DSM-IV-TR classification: autistic disorder; ADOS-G classification: autistic disorder; ADI-R classification: autistic disorder. SRS score: 90. Family history of ASD and/or intellectual disability. Minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 72; mother's SRS score, 91; brother1's SRS score, 90 (diagnosed with autistic disorder).
WISC-III-NL scores: non-verbal cognitive score, 65; verbal cognitive score, 91.
137844
1271793
1133950
GRCh38
Deletion
Yes
van_daalen_11_ASD_discovery_cases-S1
6 yrs. 5 mos.
M
ASD
DSM-IV-TR classification: autistic disorder; ADOS-G classification: autistic disorder; ADI-R classification: autistic disorder. SRS score: 90. Family history of ASD and/or intellectual disability. Facial dysmorphic features, minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 21; mother's SRS score, 26; brother1's SRS score, 50; sister1's SRS score, 38.
Mullen Scales of Early Learning (MSEL) cognitive score: 75
795798
1151145
355348
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-0132-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
1070316
1202316
132001
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU039304
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
1044817
1231316
186500
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU4145303
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
337818
2575816
2237999
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0132-005
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
1069549
1200575
131027
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0040-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
2567533
2621968
54436
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD125-896993
N/A
M
OCD
Primary diagnosis: OCD. Additional phenotype(s): no additional phenotypes reported
881495
2616383
1734889
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10073
N/A
F
Control
Control
1121669
1714998
593330
GRCh38
Duplication
No
brandler_18_ASD_discovery_controls-controlSSC03367
N/A
F
Control
Control from SSC_phase1 cohort
2169609
2238930
69322
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036018174_
N/A
N/A
Control
No previous psychiatric history
1703098
1890780
187683
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036020238_
N/A
N/A
Control
No previous psychiatric history
1521760
1680597
158838
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
N/A
N/A
Control
No previous psychiatric history
39037
85994
46958
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
N/A
N/A
Control
No previous psychiatric history
40338
85994
45657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB253888_1007853986
N/A
N/A
Control
No previous psychiatric history
970193
1028355
58163
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB295382_1007853936
N/A
N/A
Control
No previous psychiatric history
1776372
1939883
163512
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB299918_1007873981
N/A
N/A
Control
No previous psychiatric history
1037340
1884421
847082
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB313016_1007842089
N/A
N/A
Control
No previous psychiatric history
295862
528929
233068
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB438466_1007853689
N/A
N/A
Control
No previous psychiatric history
40338
1131968
1091631
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB444871_1007853318
N/A
N/A
Control
No previous psychiatric history
34643
85994
51352
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB459199_1007840471
N/A
N/A
Control
No previous psychiatric history
2170634
2839891
669258
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB483624_1007853685
N/A
N/A
Control
No previous psychiatric history
72450
298430
225981
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB537495_1007853968
N/A
N/A
Control
No previous psychiatric history
40338
85994
45657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB562526_1007875203
N/A
N/A
Control
No previous psychiatric history
1561426
1677627
116202
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB599274_1007848529
N/A
N/A
Control
No previous psychiatric history
1345754
1401267
55514
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB609802_1007875361
N/A
N/A
Control
No previous psychiatric history
567883
953070
385188
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB647111_1007846512
N/A
N/A
Control
No previous psychiatric history
842168
1092761
250594
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB650813_1007846518
N/A
N/A
Control
No previous psychiatric history
1846201
1899676
53476
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB653776_1007846516
N/A
N/A
Control
No previous psychiatric history
40338
85994
45657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB746634_1007854026
N/A
N/A
Control
No previous psychiatric history
40338
85994
45657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB763036_1007875774
N/A
N/A
Control
No previous psychiatric history
40338
85994
45657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB779852_1007875214
N/A
N/A
Control
No previous psychiatric history
1593886
1779529
185644
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB782997_1007853703
N/A
N/A
Control
No previous psychiatric history
40338
85994
45657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB825632_1007852635
N/A
N/A
Control
No previous psychiatric history
815642
1386951
571310
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
N/A
N/A
Control
No previous psychiatric history
40338
85994
45657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB868245_1007871688
N/A
N/A
Control
No previous psychiatric history
1763926
1890780
126855
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB917428_1007845364
N/A
N/A
Control
No previous psychiatric history
1406911
2879831
1472921
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB993989_1007854998
N/A
N/A
Control
No previous psychiatric history
1776372
1939883
163512
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900017_900017
N/A
N/A
Control
No previous psychiatric history
900989
978645
77657
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900162_900162
N/A
N/A
Control
No previous psychiatric history
2938861
3018817
79957
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900295_900295
N/A
N/A
Control
No previous psychiatric history
623884
662965
39082
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
N/A
N/A
Control
No previous psychiatric history
1047863
1107860
59998
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900529_900529
N/A
N/A
Control
No previous psychiatric history
380956
512629
131674
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900632_900632
N/A
N/A
Control
No previous psychiatric history
47730
200558
152829
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
N/A
N/A
Control
No previous psychiatric history
195076
245736
50661
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
N/A
N/A
Control
No previous psychiatric history
614885
1040314
425430
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
N/A
N/A
Control
No previous psychiatric history
1626804
1773813
147010
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
N/A
N/A
Control
No previous psychiatric history
2239602
2313984
74383
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900818_900818
N/A
N/A
Control
No previous psychiatric history
40338
85994
45657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901068_901068
N/A
N/A
Control
No previous psychiatric history
277631
1097957
820327
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
N/A
N/A
Control
No previous psychiatric history
390057
631664
241608
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
N/A
N/A
Control
No previous psychiatric history
2609211
2978429
369219
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902463_902463
N/A
N/A
Control
No previous psychiatric history
3058931
3089606
30676
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902483_902483
N/A
N/A
Control
No previous psychiatric history
40338
78638
38301
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902674_902674
N/A
N/A
Control
No previous psychiatric history
53862
87014
33153
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol12
NA
Control
NA
NA
1898506
1899238
733
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1039
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
529666
565961
36296
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1054
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
1941360
1949995
8636
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1369
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
1782524
1787581
5058
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1976
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
1782524
1787581
5058
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split2081
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
2616290
2624938
8649
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split264
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
1941360
1949995
8636
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split860
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
1941360
1949995
8636
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control11679.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
1220686
2571558
1350873
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11941.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
1295600
1321834
26235
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13645.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
390700
405711
15012
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14412.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
1148008
1402486
254479
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0200
26 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
2921004
2934953
13950
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON0200
26 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
2298727
2586365
287639
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON0606
43 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
1152235
1312243
160009
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON2070
18 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
2328294
2396671
68378
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0606
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
1152234
1312243
160010
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11106.s1
NA
M
Control
NA
NA
2170764
2433363
262600
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11928.s2
NA
M
Control
NA
NA
2410019
2447977
37959
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11999.s1
NA
F
Control
NA
NA
526265
1414808
888544
GRCh38
Duplication
No
mercati_16_ASD_discovery_controls-control10
N/A
N/A
Control
Control from SAGE + Hapmap3 (Pinto et al., 2010)
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control11
N/A
N/A
Control
Control from SAGE + Hapmap3 (Pinto et al., 2010)
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control12
N/A
N/A
Control
Control from HBAC
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control13
N/A
N/A
Control
Control from HBAC
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control14
N/A
N/A
Control
Control from HBAC
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control15
N/A
N/A
Control
Control from HBAC
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control16
N/A
N/A
Control
Control from KORA
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control17
N/A
N/A
Control
Control from KORA
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control5
N/A
N/A
Control
Control from KORA
N/A
N/A
N/A
GRCh37
Deletion
No
mercati_16_ASD_discovery_controls-control6
N/A
N/A
Control
Control from this study
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control7
N/A
N/A
Control
Control from SAGE + Hapmap3 (Pinto et al., 2010)
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control8
N/A
N/A
Control
Control from SAGE + Hapmap3 (Pinto et al., 2010)
N/A
N/A
N/A
GRCh37
Duplication
No
mercati_16_ASD_discovery_controls-control9
N/A
N/A
Control
Control from SAGE + Hapmap3 (Pinto et al., 2010)
N/A
N/A
N/A
GRCh37
Duplication
No
nord_11_ASD_discovery_controls-04C27412
Control
818787
1403591
584805
Unknown
Duplication
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
1876225
1878453
2229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
1871687
1884167
12481
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11051.s1
9.6
F
Control (matched sibling)
NA
NA
2673075
2720388
47314
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11051.s1
9.6
F
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
2170634
2431101
260468
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11144.s1
14
F
Control (matched sibling)
NA
NA
40338
85994
45657
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11164.s1
5.4
F
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11263.s1
15.9
F
Control (matched sibling)
NA
NA
1103565
1745897
642333
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11310.s1
9.5
F
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11452.s1
6.8
M
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11455.s1
8.9
F
Control (matched sibling)
NA
NA
2528007
2531847
3841
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
39037
85994
46958
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11597.s1
9
M
Control (matched sibling)
NA
NA
867062
907662
40601
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11630.s1
8.3
M
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
1202750
1987145
784396
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11720.s1
11.6
F
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11731.s1
5.3
F
Control (matched sibling)
NA
NA
1876225
1878453
2229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
2170634
2238551
67918
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11897.s1
8
M
Control (matched sibling)
NA
NA
40338
87014
46677
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
1074220
1202750
128531
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11928.s1
14.1
M
Control (matched sibling)
NA
NA
1887982
1919939
31958
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
1286777
1324656
37880
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
528929
1412012
883084
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12007.s1
10.9
M
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
991351
1004399
13049
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12130.s1
8.4
M
Control (matched sibling)
NA
NA
2582989
2609211
26223
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
1871687
1884167
12481
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
2969792
2974430
4639
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12189.s1
6.7
F
Control (matched sibling)
NA
NA
1245120
1259136
14017
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12331.s1
9.6
F
Control (matched sibling)
NA
NA
921698
930428
8731
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
411856
419080
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12438.s1
6.4
M
Control (matched sibling)
NA
NA
1876225
1878453
2229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12462.s1
20.8
F
Control (matched sibling)
NA
NA
1740840
1745897
5058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
1876225
1878453
2229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13035.s1
12.8
F
Control (matched sibling)
NA
NA
1740840
1742201
1362
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13162.s1
6.7
F
Control (matched sibling)
NA
NA
40338
87014
46677
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
1840507
1920852
80346
GRCh38
Deletion
No
wang_10_ASD_discovery_controls-Aut46
36
F
Control
NA
NA
170062
1296575
1126514
GRCh38
Duplication
No
wang_10_ASD_discovery_controls-Aut99
14
M
Control
NA
NA
40338
1105517
1065180
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case152
Unknown
CNTN6
akter_23_ASD/ADHD/DD/ID_discovery_cases-case42
Unknown
Multiplex
CNTN6,CRB3P1
akter_23_ASD/ADHD/DD/ID_discovery_cases-case43
Unknown
Multiplex
CNTN6,CRB3P1
bitar_19_ASD_discovery_cases-case92
qPCR
Maternal
RNU6-1194P,RPS8P6,RPSAP32,CHL1-AS1,CHL1-AS2,CHL1,LINC01266
brandler_18_ASD_discovery_cases-caseSSC03348
PCR or SNP data validation
Paternal
CNTN4
brandler_18_ASD_discovery_cases-caseSSC11369
PCR or SNP data validation
Paternal
CNTN4
brandler_18_ASD_replication_cases-case1-0125-003
No validation step reported
Maternal
CNTN4
brandler_18_ASD_replication_cases-case1-0804-003
No validation step reported
Maternal
CNTN4
chaves_19_ASD/DD/ID_discovery_cases-case223
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,CHL1-AS1,CHL1,LINC01266,CNTN6
chehbani_22_ASD_discovery_cases-case33
Unknown
Simplex
CNTN6,LINC01266,RN7SL120P
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
christian_08_ASD_discovery_cases-AU066005
FISH, microsatellite
inherited
Multiplex
NA
HINT2P1,CNTN4
costa_21_ASD_discovery_cases-caseP124
NGS (XHMM)
Unknown
CNTN6
costa_21_ASD_discovery_cases-caseP127
aCGH (Agilent 180K)
Maternal
CNTN6
cottrell_11_ASD_discovery_cases-probandA154
FISH
Maternal
Partial multiplex (sibling with mixed language disorder, but not ASD)
Segregated
RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN4
digregorio_17_DD/ID_discovery_cases-DECIPHER_300203
qPCR
Paternal
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CHL1,LINC01266,CNTN6,CNTN4
engchuan_15_ASD_discovery_cases-case1108_6
Unknown
RPL23AP38
engchuan_15_ASD_discovery_cases-case13035_443
Unknown
engchuan_15_ASD_discovery_cases-case14121_2140
Unknown
LINC01266
engchuan_15_ASD_discovery_cases-case14151_2500
Unknown
LINC01986,CHL1-AS2,CHL1
engchuan_15_ASD_discovery_cases-case14281_4040
Unknown
HINT2P1,CNTN4
engchuan_15_ASD_discovery_cases-case14364_4780
Unknown
engchuan_15_ASD_discovery_cases-case14387_4960
Unknown
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN6,CNTN4
engchuan_15_ASD_discovery_cases-case16059_1571075001
Unknown
CHL1
engchuan_15_ASD_discovery_cases-case16095_1571145001
Unknown
engchuan_15_ASD_discovery_cases-case17035_1
Unknown
RNU6-1194P,RPS8P6,CHL1-AS1,CHL1
engchuan_15_ASD_discovery_cases-case20070_1331001
Unknown
RPL21P17
engchuan_15_ASD_discovery_cases-case3085_3
Unknown
LINC01986,CHL1-AS2,CHL1
engchuan_15_ASD_discovery_cases-case3147_4
Unknown
engchuan_15_ASD_discovery_cases-case3614_3
Unknown
CNTN4
engchuan_15_ASD_discovery_cases-case4374_1
Unknown
LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
engchuan_15_ASD_discovery_cases-case4386_1
Unknown
DNAJC19P4,CNTN4-AS1,IL5RA,CNTN4
engchuan_15_ASD_discovery_cases-case4386_1
Unknown
RN7SL120P,CRB3P1,CNTN6
engchuan_15_ASD_discovery_cases-case5065_3
Unknown
RPL23AP39
engchuan_15_ASD_discovery_cases-case5081_4
Unknown
CNTN6
engchuan_15_ASD_discovery_cases-case5146_4
Unknown
RPS8P6,CHL1
engchuan_15_ASD_discovery_cases-case5241_3
Unknown
RPSAP32,RN7SL120P,LINC01266,CNTN6
engchuan_15_ASD_discovery_cases-case5267_3
Unknown
IL5RA,TRNT1,CRBN
engchuan_15_ASD_discovery_cases-case5269_3
Unknown
CNTN4
engchuan_15_ASD_discovery_cases-case5312_3
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,CHL1-AS1,CHL1,LINC01266,CNTN6
engchuan_15_ASD_discovery_cases-case5355_3
Unknown
RN7SKP144,CNTN4-AS2,CNTN4
engchuan_15_ASD_discovery_cases-case5391_3
Unknown
CNTN6
engchuan_15_ASD_discovery_cases-case5456_3
Unknown
engchuan_15_ASD_discovery_cases-case6037_5
Unknown
engchuan_15_ASD_discovery_cases-case6319_3
Unknown
CNTN4
engchuan_15_ASD_discovery_cases-case8007_201
Unknown
engchuan_15_ASD_discovery_cases-case8452_201
Unknown
RN7SL120P,LINC01266,CNTN6
feliciano_19_ASD_discovery_cases-caseSP0028854
Paternal
Simplex
CRB3P1,CNTN6
null
fry_16_DD/ID/EP/ASD_discovery_cases-caseR981
Unknown
RN7SL120P,LINC01266,CNTN6
gai_11_ASD_discovery_cases-AU1070302
qPCR
Inherited
CNTN4
gai_11_ASD_discovery_cases-AU1156301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1916302
Inherited
CNTN6
gai_11_ASD_discovery_cases-AU1916302
Inherited
0 genes
gai_11_ASD_replication_cases-AU025503
Inherited
0 genes
gai_11_ASD_replication_cases-AU025506
Inherited
0 genes
gai_11_ASD_replication_cases-AU036404
Inherited
0 genes
gai_11_ASD_replication_cases-AU038004
Inherited
CNTN6
gai_11_ASD_replication_cases-AU044004
Inherited
CNTN6
gai_11_ASD_replication_cases-AU066004
qPCR
Inherited
CNTN4
gai_11_ASD_replication_cases-AU066005
qPCR
Inherited
CNTN4
gai_11_ASD_replication_cases-AU0920302
Inherited
CNTN6
gazzellone_14_ASD_discovery_cases-case523-3
Unknown
Unknown
Unknown
CHL1
gazzellone_14_ASD_discovery_cases-case608-3
Unknown
Unknown
Unknown
HINT2P1,CNTN4
girirajan_11_ASD_discovery_cases-Si193
Unknown
Simplex
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
girirajan_13a_ASD_discovery_cases-11851.p1
Unknown
Simplex
Unknown
RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
girirajan_13a_ASD_discovery_cases-11999.p1
Unknown
Simplex
Unknown
RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
girirajan_13a_ASD_discovery_cases-12940.p1
Unknown
Simplex
Unknown
HINT2P1,CNTN4
girirajan_13a_ASD_discovery_cases-13739.p1
Unknown
Simplex
Unknown
HINT2P1,CNTN4
girirajan_13a_ASD_discovery_cases-13783.p1
Unknown
Simplex
Unknown
RN7SL120P,CRB3P1,CNTN6
girirajan_13a_ASD_discovery_cases-13845.p1
Unknown
Simplex
Unknown
RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
girirajan_13a_ASD_discovery_cases-13949.p1
Unknown
Simplex
Unknown
RN7SKP144,CNTN4-AS2,CNTN4
girirajan_13a_ASD_discovery_cases-13988.p1
Unknown
Simplex
Unknown
RNU6-1194P,RPS8P6,CHL1-AS2,CHL1-AS1,CHL1
girirajan_13a_ASD_discovery_cases-14018.p1
Unknown
Simplex
Unknown
HINT2P1,CNTN4
girirajan_13a_ASD_discovery_cases-AU020103
Unknown
Multiplex
Unknown
CRB3P1,CNTN6
girirajan_13a_ASD_discovery_cases-AU082505
Unknown
Multiplex
Unknown
HINT2P1,CNTN4
girirajan_13a_ASD_discovery_cases-AU1765302
Unknown
Multiplex
Unknown
RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN6,CNTN4
glessner_09_ASD_discovery_cases-12989_64063
qPCR
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-2261786327
qPCR
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-AU01303
qPCR
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-Owely_E016
qPCR
Unknown
Unknown
NA
CNTN4
glessner_09_ASD_replication_cases-AU018003
qPCR
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU018004
qPCR
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU036403
qPCR
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU036404
qPCR
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU077105
qPCR
Unknown
Unknown
NA
CNTN4
glessner_09_ASD_replication_cases-AU082803
qPCR
Unknown
Unknown
NA
CNTN4
glessner_09_ASD_replication_cases-AU0913301
qPCR
Unknown
Unknown
NA
CNTN4
glessner_09_ASD_replication_cases-AU0913302
qPCR
Unknown
Unknown
NA
CNTN4
glessner_09_ASD_replication_cases-AU1070302
qPCR
Unknown
Unknown
NA
CNTN4
glessner_09_ASD_replication_cases-AU1135202
qPCR
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1407301
qPCR
Unknown
Unknown
NA
CNTN4
glessner_09_ASD_replication_cases-AU1427302
qPCR
Unknown
Unknown
NA
CNTN4
glessner_09_ASD_replication_cases-AU1427303
qPCR
Unknown
Unknown
NA
CNTN4
glessner_09_ASD_replication_cases-AU1601301
qPCR
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1601302
qPCR
Unknown
Unknown
NA
griswold_12_ASD_discovery_cases-case18011
qPCR
Paternal
Simplex
Segregated
LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
guo_12_ASD_discovery_cases-case1
qPCR
Unknown
Simplex
Unknown
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
guo_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
CNTN6
guo_17_ASD_discovery_cases-caseM8560
qPCR
Unknown
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
guo_18_ASD/DD/ID_discovery_cases-caseBK-204-03
aCGH, Sanger sequencing
Paternal
Simplex
Unknown
RN7SL120P,CNTN6
han_22_ASD/DD/ID_discovery_cases-case15D2584
Unknown
CNTN4,HINT2P1
hnoonual_17_ASD_discovery_cases-caseTM4-3
De novo
CHL1-AS2,CHL1
hu_15_ASD/DD/ID/EP_discovery_cases-case1
Unknown
Multi-generational
Unknown
RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,LINC01266,CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case10
Unknown
Multi-generational
Unknown
CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case11
FISH
Paternal
Multi-generational
Unknown
CRB3P1,RPL23AP38,CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case12
Unknown
Multi-generational
Unknown
CRB3P1,CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case13
FISH
Maternal
Multi-generational
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS1,CHL1,LINC01266,CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case14
Unknown
Multi-generational
Unknown
RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CHL1,LINC01266,CNTN6,CNTN4
hu_15_ASD/DD/ID/EP_discovery_cases-case2
Unknown
Multi-generational
Unknown
RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case3
Unknown
Multi-generational
Unknown
CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case4
Unknown
Multi-generational
Unknown
CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case5
Unknown
Unknown
Unknown
CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case6
FISH
Paternal
Multiplex
Segregated
CRB3P1,CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case7
Unknown
Simplex
Unknown
CRB3P1,CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case8
FISH
Maternal
Multi-generational
Unknown
RPSAP32,RN7SL120P,LINC01266,CNTN6
hu_15_ASD/DD/ID/EP_discovery_cases-case9
Unknown
Multi-generational
Unknown
RN7SL120P,LINC01266,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000038
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CHL1-AS2,CHL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000128
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
HINT2P1,CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000781
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000894
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL120P,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000954
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HINT2P1,CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001041
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001259
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001652
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,CHL1-AS2,CHL1-AS1,CHL1,LINC01266
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001671
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS1,CHL1,LINC01266,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002249
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS1,CHL1,LINC01266,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002283
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002436
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1194P,RPS8P6,CHL1-AS2,CHL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002521
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003942
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003996
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004050
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL120P,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004392
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004528
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS8P6,RPSAP32,RN7SL120P,CRB3P1,CHL1-AS1,CHL1,LINC01266,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004673
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
HINT2P1,DNAJC19P4,CNTN4-AS1,IL5RA,CNTN4,TRNT1,CRBN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004764
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HINT2P1,CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004893
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004952
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL120P,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005296
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005327
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL120P,LINC01266,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005354
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CRB3P1,CNTN6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005368
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
kanduri_15_ASD_discovery_cases-case3021
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, CHL1(dist=117958)
kashevarova_14_ASD/ID_discovery_cases-caseF_II-4
RT-PCR
Unknown
Multiplex
Unknown
CRB3P1,CNTN6
kashevarova_14_ASD/ID_discovery_cases-caseF_II-5
RT-PCR
Unknown
Multiplex
Unknown
CRB3P1,CNTN6
kashevarova_14_ASD/ID_discovery_cases-caseK_III-1
RT-PCR
Paternal
Simplex
Not segregated
RN7SL120P,CRB3P1,LINC01266,CNTN6
kashevarova_14_ASD/ID_discovery_cases-caseN_II-1
RT-PCR
Paternal
Simplex
Not segregated
CRB3P1,RPL23AP38,CNTN6
krumm_15_ASD_discovery_cases-case11679.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CRB3P1,CNTN6
krumm_15_ASD_discovery_cases-case11851.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CRB3P1,CNTN6
krumm_15_ASD_discovery_cases-case11855.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CNTN6
krumm_15_ASD_discovery_cases-case12505.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CRB3P1,CNTN6
krumm_15_ASD_discovery_cases-case12783.p1
1M-Duov3
Maternal
Simplex
Segregated
CNTN6
krumm_15_ASD_discovery_cases-case13645.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CHL1
krumm_15_ASD_discovery_cases-case13739.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CNTN4
krumm_15_ASD_discovery_cases-case13783.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CRB3P1,CNTN6
krumm_15_ASD_discovery_cases-case14018.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CNTN4
krumm_15_ASD_discovery_cases-case14196.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CNTN6
krumm_15_ASD_discovery_cases-case14412.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CRB3P1,CNTN6
kushima_18_ASD_discovery_cases-caseASD0146
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
De novo
Not simplex
Not segregated
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CHL1,LINC01266,CNTN6,CNTN4
kushima_18_ASD_discovery_cases-caseASD0210
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
CNTN6
kushima_18_ASD_discovery_cases-caseASD0215
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
CNTN6
kushima_18_ASD_discovery_cases-caseASD0733
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
CNTN6
kushima_18_ASD_discovery_cases-caseASD0943
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
CNTN6
kushima_18_SCZ_discovery_cases-caseSCZ0029
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Unknown
Unknown
CNTN6
kushima_22_ASD_discovery_cases-caseASD0146
qRT-PCR
De novo
CNTN6,CNTN4,RPL23AP38,RPSAP32,RPL21P17,RPS8P6,RPL23AP39,CNTN4-AS2,CHL1-AS1,LINC01266,CHL1-AS2,HINT2P1,RN7SKP144,CRB3P1,RN7SL120P,RNU6-1194P,CHL1
kushima_22_ASD_discovery_cases-caseASD0210
qRT-PCR
Unknown
CNTN6
kushima_22_ASD_discovery_cases-caseASD0215
qRT-PCR
Unknown
CNTN6
kushima_22_ASD_discovery_cases-caseASD0733
qRT-PCR
Unknown
CNTN6
kushima_22_ASD_discovery_cases-caseASD0943
qRT-PCR
Unknown
CNTN6
kushima_22_BPD_discovery_cases-caseBD0614
qRT-PCR
Unknown
CNTN6,CNTN4,RPL23AP38,RPL21P17,RPL23AP39,CNTN4-AS2,HINT2P1,RN7SKP144,CRB3P1
kushima_22_BPD_discovery_cases-caseBD1617
qRT-PCR
Unknown
CNTN6
kushima_22_SCZ_discovery_cases-caseSCZ0029
qRT-PCR
Maternal
CNTN6
kushima_22_SCZ_discovery_cases-caseSCZ3374
qRT-PCR
Unknown
CNTN6
leblond_12_ASD_replication_cases-Pintocase6319_3
Maternal
CNTN4
lee_17_ASD/DD/ID/MCA_discovery_cases-case3
Unknown
CHL1
leite_22_DD/ID_discovery_cases-case071
Maternal
CNTN6,RPSAP32,LINC01266,CRB3P1,RN7SL120P
leppa_16_ASD_discovery_cases-AU1765302
Paternal
Multiplex
Not segregated (CNV not reported in affected sibling)
RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN6,CNTN4
lesca_12_EP_discovery_cases-caseDY34
qPCR
Maternal
Unknown
Unknown
CNTN6
lesca_12_EP_discovery_cases-caseED15
Unknown
Unknown
Unknown
LINC01266
levy_11_ASD_discovery_cases-11999.p1
Paternal
Simplex
Not segregated
RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
Unknown
LINC01266
li_16_ASD/DD_discovery_cases-case1
qPCR
Maternal
Unknown
RPSAP32,CHL1-AS1,CHL1,LINC01266
mahjani_21_ASD_discovery_cases-case231
Unknown
CNTN6,RPL23AP38,RPL21P17,RPL23AP39,LINC01266,CRB3P1,RN7SL120P
maini_18_ASD/DD/ID_discovery_cases-case_unknown147
Maternal
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
marshall_08_ASD_discovery_cases-MM0068-003
qPCR, qmPCR
Unknown
NA
NA
RPL23AP39
mercati_16_ASD_discovery_cases-probandAU-ANG-016
CNV validation not reported
Paternal
Paternal
Multi-generational
Segregated
RN7SL120P,LINC01266,CNTN6
mercati_16_ASD_discovery_cases-probandAU-FRA-035
CNV validation not reported
Paternal
Paternal
Multi-generational
Not segregated
CRB3P1,RPL23AP38,RPL23AP39,CNTN6
mercati_16_ASD_discovery_cases-probandAU-RD-183
CNV validation not reported
Paternal
Simplex
Unknown
CNTN6
mercati_16_ASD_discovery_cases-probandAU-RD-192
CNV validation not reported
Maternal
Simplex
Unknown
CNTN6
monteiro_19_ASD_discovery_cases_case6
Paternal
CHL1-AS2,CHL1
mosca_16_DCD_discovery_cases-case125603
qPCR
Unknown (paternal DNA not available)
Multi-generational
Unknown
CNTN4
nava_13_ASD_discovery_cases-Fam1137Proband10782
Unknown
Simplex
Unknown
CNTN4
nava_13_ASD_discovery_cases-Fam1181Proband11386
Unknown
Unknown
Unknown
RPL23AP39
nava_13_ASD_discovery_cases-Fam1295Proband11355
Unknown, present in affected brother
Multiplex
Segregated
RPL23AP39
nava_13_ASD_discovery_cases-Fam755Proband8403
Maternal
Simplex
Unknown
RPL23AP38
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC39167
FISH
Unknown
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
pinto_10_ASD_discovery_cases-case1108_6
Illumina550;Affy5.0
maternal
NA
NA
RPL23AP38
pinto_10_ASD_discovery_cases-case5065_3
Agilent1M
paternal
Multiplex
Unknown
RPL23AP39
pinto_10_ASD_discovery_cases-case5081_4
Agilent1M
maternal
NA
NA
CNTN6
pinto_10_ASD_discovery_cases-case5146_4
Agilent1M
paternal
NA
NA
RPS8P6,CHL1
pinto_10_ASD_discovery_cases-case5241_3
Agilent1M
paternal
Multiplex
NA
RPSAP32,RN7SL120P,LINC01266,CNTN6
pinto_10_ASD_discovery_cases-case5267_3
qPCR-Paternal,Agilent1M
paternal
Simplex
NA
IL5RA,TRNT1,CRBN
pinto_10_ASD_discovery_cases-case5269_3
qPCR-Paternal
paternal
Simplex
NA
CNTN4
pinto_10_ASD_discovery_cases-case5355_3
qPCR-Maternal
maternal
Simplex
NA
RN7SKP144,CNTN4-AS2,CNTN4
pinto_10_ASD_discovery_cases-case5391_3
Agilent1M
maternal
NA
NA
CNTN6
pinto_10_ASD_discovery_cases-case5456_3
Agilent1M
paternal
NA
NA
pinto_14_ASD_discovery_cases2-case16095_1571145001
qPCR
Maternal
Simplex
(not tested)
pinto_14_ASD_discovery_cases2-case4374_1
qPCR (Griswold et al. 2011, PMID: 21360829)
Paternal
Simplex
(not tested)
LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
prasad_12_ASD_discovery_cases-case102830
Unknown
Unknown
Unknown
CNTN4
prasad_12_ASD_discovery_cases-case143189
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case155493L
Unknown
Unknown
Unknown
CHL1
prasad_12_ASD_discovery_cases-case60921
Unknown
Unknown
Unknown
IL5RA,CRBN,TRNT1
prasad_12_ASD_discovery_cases-case60956
Unknown
Unknown
Unknown
CHL1
prasad_12_ASD_discovery_cases-case88032
Unknown
Simplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case88794
Unknown
Unknown
Unknown
CHL1,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH1
Unknown
Simplex
Unknown
CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH2
Unknown
Multiplex
Unknown
RN7SL120P,LINC01266,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH3
Unknown
Simplex
Unknown
CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH4
qPCR
Maternal
Multi-generational
CRB3P1,RPL23AP38,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH5
Unknown
Simplex
Unknown
RN7SL120P,LINC01266,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH6
Unknown
Simplex
Unknown
RN7SL120P,LINC01266,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH1
FISH
Maternal
Multi-generational
RN7SL120P,CRB3P1,LINC01266,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH10
FISH
Paternal
Multi-generational
Unknown
RN7SL120P,LINC01266,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH11
Unknown
Unknown
CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH12
Unknown
Unknown
CRB3P1,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH13
Unknown (not maternal)
Multi-generational
Unknown
CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH2
Unknown
Multi-generational
Unknown
CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH3
Unknown
Multi-generational
Unknown
RN7SL120P,LINC01266,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH4
Unknown
Simplex
RN7SL120P,LINC01266,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH5
FISH
Maternal
Mutli-generational
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH6
FISH
Maternal
Simplex
Not segregated
RN7SL120P,LINC01266,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH7
Unknown
Simplex
Unknown
CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH8
Unknown
Multi-generational
Unknown
RN7SL120P,LINC01266,CNTN6
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH9
FISH
Maternal
Not segregated
CNTN6
roohi_09_ASD_discovery_cases-subject1
FISH
Paternal
Simplex
NA
CNTN4
roohi_09_ASD_discovery_cases-subject2B
FISH
Paternal
Multiplex
Not segregated
CNTN4
roohi_09_ASD_discovery_cases-subject2C
FISH
Paternal
Multiplex
Not segregated
CNTN4
rosenfeld_10_ASD_discovery_cases-case13744
FISH
Unknown
Unknown
Unknown
CHL1
rosenfeld_10_ASD_discovery_cases-case16123
FISH
Maternal
Unknown
Unknown
RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN4
rosenfeld_10_ASD_discovery_cases-case20491
FISH
Maternal
Unknown
Unknown
CNTN6
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
Not tested by qPCR
Unknown
Unknown
Unknown
RN7SL120P,CNTN6
salyakina_11_ASD_discovery_cases-37994_001
qPCR
Maternal
Simplex
Not segregated
salyakina_11_ASD_discovery_cases-37994_103
qPCR
Maternal
Simplex
Not segregated
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11057.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11096.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11131.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11131.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11158.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11167.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11196.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11220.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CNTN6
sanders_11_ASD_discovery_cases-11220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11246.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11277.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SL120P,CRB3P1,LINC01266,CNTN6
sanders_11_ASD_discovery_cases-11294.p1
Paternal
Simplex (trio)
NA
RNU6-1194P,RPS8P6,CHL1
sanders_11_ASD_discovery_cases-11336.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11441.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11475.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11526.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11584.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11597.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11634.p1
Unknown
Simplex (quad-proband matched)
Segregated
IL5RA
sanders_11_ASD_discovery_cases-11679.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
sanders_11_ASD_discovery_cases-11696.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11711.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11724.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11731.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11775.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CNTN4
sanders_11_ASD_discovery_cases-11851.p1
Maternal
Simplex (trio)
NA
RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
sanders_11_ASD_discovery_cases-11855.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SL120P,LINC01266,CNTN6
sanders_11_ASD_discovery_cases-11928.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPL21P17
sanders_11_ASD_discovery_cases-11999.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01266
sanders_11_ASD_discovery_cases-11999.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SL120P,CRB3P1,LINC01266,CNTN6
sanders_11_ASD_discovery_cases-12130.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CNTN4
sanders_11_ASD_discovery_cases-12184.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CNTN4
sanders_11_ASD_discovery_cases-12201.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12260.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12335.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12355.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12447.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CNTN4-AS1,IL5RA
sanders_11_ASD_discovery_cases-12456.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12505.p1
Paternal
Simplex (trio)
NA
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
sanders_11_ASD_discovery_cases-12540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12596.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12624.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12638.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12652.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPL23AP38
sanders_11_ASD_discovery_cases-12715.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12805.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12964.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12976.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13056.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13072.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CNTN4
sanders_11_ASD_discovery_cases-13097.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IL5RA
sanders_11_ASD_discovery_cases-13251.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPL21P17
sansovic_17_DD/ID/ASD_discovery_cases-case21
Unknown
CNTN4
sansovic_17_DD/ID/ASD_discovery_cases-case7
Maternal
HINT2P1,CNTN4
schmitz-abe_20_ASD_discovery_cases-caseAU-18101
qPCR
Both parents
Unknown
Not segregated
streata_22_ASD/DD/ID_discovery_cases-case95
Unknown
CNTN4
tropeano_16_ASD/NDD_replication_cases-case26
Unknown
Unknown
Unknown
HINT2P1,CNTN4
van_daalen_11_ASD_discovery_cases-M3
Inheritance
Maternal
Multiplex
Not segregated
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
van_daalen_11_ASD_discovery_cases-S1
Inheritance
De novo
Simplex
NA
RN7SL120P,LINC01266,CNTN6
yuen_17_ASD_discovery_cases-case2-0132-004
CNV not detected by WGS, identified via Illumina1M
Maternal
Multiplex
Not segregated
CNTN6
yuen_17_ASD_discovery_cases-caseAU039304
Not available
Paternal
Multiplex
Not segregated
RN7SL120P,CNTN6
yuen_17_ASD_discovery_cases-caseAU4145303
Not available
Paternal
Multiplex
Not segregated
RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CHL1-AS1,CNTN4-AS2,CHL1,LINC01266,CNTN6,CNTN4
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0132-005
RT-qPCR or WGS
Unknown
CNTN6
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0040-003
RT-qPCR or WGS
Maternal
CNTN4
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD125-896993
RT-qPCR or WGS
Paternal
RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10073
Unknown
CRB3P1,RPL23AP38,CNTN6
brandler_18_ASD_discovery_controls-controlSSC03367
PCR or SNP data validation
Paternal
CNTN4
engchuan_15_ASD_discovery_controls-control110036018174_
Unknown
RPL23AP39
engchuan_15_ASD_discovery_controls-control110036020238_
Unknown
RPL23AP38
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
Unknown
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
Unknown
engchuan_15_ASD_discovery_controls-controlB253888_1007853986
Unknown
engchuan_15_ASD_discovery_controls-controlB295382_1007853936
Unknown
RPL21P17
engchuan_15_ASD_discovery_controls-controlB299918_1007873981
Unknown
RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,CNTN6
engchuan_15_ASD_discovery_controls-controlB313016_1007842089
Unknown
RPS8P6,CHL1-AS1,CHL1
engchuan_15_ASD_discovery_controls-controlB438466_1007853689
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
engchuan_15_ASD_discovery_controls-controlB444871_1007853318
Unknown
engchuan_15_ASD_discovery_controls-controlB459199_1007840471
Unknown
HINT2P1,CNTN4
engchuan_15_ASD_discovery_controls-controlB483624_1007853685
Unknown
RNU6-1194P,CHL1-AS2,CHL1
engchuan_15_ASD_discovery_controls-controlB537495_1007853968
Unknown
engchuan_15_ASD_discovery_controls-controlB562526_1007875203
Unknown
RPL23AP38
engchuan_15_ASD_discovery_controls-controlB599274_1007848529
Unknown
CRB3P1,CNTN6
engchuan_15_ASD_discovery_controls-controlB609802_1007875361
Unknown
RPSAP32,LINC01266
engchuan_15_ASD_discovery_controls-controlB647111_1007846512
Unknown
RN7SL120P,LINC01266,CNTN6
engchuan_15_ASD_discovery_controls-controlB650813_1007846518
Unknown
engchuan_15_ASD_discovery_controls-controlB653776_1007846516
Unknown
engchuan_15_ASD_discovery_controls-controlB746634_1007854026
Unknown
engchuan_15_ASD_discovery_controls-controlB763036_1007875774
Unknown
engchuan_15_ASD_discovery_controls-controlB779852_1007875214
Unknown
RPL23AP38,RPL23AP39
engchuan_15_ASD_discovery_controls-controlB782997_1007853703
Unknown
engchuan_15_ASD_discovery_controls-controlB825632_1007852635
Unknown
RN7SL120P,LINC01266,CNTN6
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
Unknown
engchuan_15_ASD_discovery_controls-controlB868245_1007871688
Unknown
engchuan_15_ASD_discovery_controls-controlB917428_1007845364
Unknown
RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
engchuan_15_ASD_discovery_controls-controlB993989_1007854998
Unknown
RPL21P17
engchuan_15_ASD_discovery_controls-controlHABC_900017_900017
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900162_900162
Unknown
DNAJC19P4,CNTN4
engchuan_15_ASD_discovery_controls-controlHABC_900295_900295
Unknown
LINC01266
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
Unknown
RN7SL120P,CNTN6
engchuan_15_ASD_discovery_controls-controlHABC_900529_900529
Unknown
CHL1-AS1,CHL1
engchuan_15_ASD_discovery_controls-controlHABC_900632_900632
Unknown
CHL1-AS2,CHL1
engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
Unknown
CHL1-AS2,CHL1
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
Unknown
RPSAP32,LINC01266
engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
Unknown
RPL23AP39
engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
Unknown
CNTN4
engchuan_15_ASD_discovery_controls-controlHABC_900818_900818
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901068_901068
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS1,CHL1,LINC01266,CNTN6
engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
Unknown
RPSAP32,CHL1,LINC01266
engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
Unknown
CNTN4
engchuan_15_ASD_discovery_controls-controlHABC_902463_902463
Unknown
CNTN4-AS1,IL5RA
engchuan_15_ASD_discovery_controls-controlHABC_902483_902483
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902674_902674
Unknown
glessner_09_ASD_discovery_controls-disccontrol12
Unknown
Unknown
NA
kanduri_15_ASD_discovery_controls-control_split1039
Unknown
Intergenic CNV: nearest genes, CHL1(dist=78569),CNTN6(dist=568668)
kanduri_15_ASD_discovery_controls-control_split1054
Unknown
Intergenic CNV: nearest genes, CNTN6(dist=496082),CNTN4(dist=190555)
kanduri_15_ASD_discovery_controls-control_split1369
Unknown
Intergenic CNV: nearest genes, CNTN6(dist=337246),CNTN4(dist=352969)
kanduri_15_ASD_discovery_controls-control_split1976
Unknown
Intergenic CNV: nearest genes, CNTN6(dist=337246),CNTN4(dist=352969)
kanduri_15_ASD_discovery_controls-control_split2081
Unknown
CNTN4 (intronic)
kanduri_15_ASD_discovery_controls-control_split264
Unknown
Intergenic CNV: nearest genes, CNTN6(dist=496082),CNTN4(dist=190555)
kanduri_15_ASD_discovery_controls-control_split860
Unknown
Intergenic CNV: nearest genes, CNTN6(dist=496082),CNTN4(dist=190555)
krumm_15_ASD_discovery_controls-control11679.s1
Illumina 1MDuo
Maternal
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
krumm_15_ASD_discovery_controls-control11941.s1
Illumina 1MDuo
Paternal
CNTN6
krumm_15_ASD_discovery_controls-control13645.s1
1M-Duov3
Paternal
CHL1
krumm_15_ASD_discovery_controls-control14412.s1
Omni2.5-4v1
Maternal
CRB3P1,CNTN6
kushima_18_ASD/SCZ_discovery_controls-controlCON0200
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
CNTN4
kushima_18_ASD/SCZ_discovery_controls-controlCON0200
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
HINT2P1,CNTN4
kushima_18_ASD/SCZ_discovery_controls-controlCON0606
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
CNTN6
kushima_18_ASD/SCZ_discovery_controls-controlCON2070
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
HINT2P1,CNTN4
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0606
qRT-PCR
Unknown
CNTN6
levy_11_ASD_discovery_controls-11106.s1
Paternal
Simplex
NA
HINT2P1,CNTN4
levy_11_ASD_discovery_controls-11928.s2
aCGH (Agilent 244K)
De novo
Simplex
NA
CNTN4
levy_11_ASD_discovery_controls-11999.s1
Paternal
Simplex
NA
RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
mercati_16_ASD_discovery_controls-control10
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control11
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control12
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control13
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control14
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control15
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control16
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control17
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control5
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control6
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control7
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control8
CNV validation not reported
Unknown
CNTN6
mercati_16_ASD_discovery_controls-control9
CNV validation not reported
Unknown
CNTN6
nord_11_ASD_discovery_controls-04C27412
CNTN6
sanders_11_ASD_discovery_controls-11033.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11041.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11051.s1
Paternal
Simplex (quad)
NA
CNTN4
sanders_11_ASD_discovery_controls-11051.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11106.s1
Paternal
Simplex (quad)
NA
HINT2P1,CNTN4
sanders_11_ASD_discovery_controls-11144.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11164.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11263.s1
Maternal
Simplex (quad)
NA
CRB3P1,RPL23AP38,RPL23AP39,CNTN6
sanders_11_ASD_discovery_controls-11274.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11310.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11318.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11452.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11455.s1
Maternal
Simplex (quad)
NA
CNTN4
sanders_11_ASD_discovery_controls-11584.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11597.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11630.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11679.s1
Maternal
Simplex (quad)
NA
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
sanders_11_ASD_discovery_controls-11720.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11731.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11775.s1
Paternal
Simplex (quad)
NA
CNTN4
sanders_11_ASD_discovery_controls-11897.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11909.s1
Paternal
Simplex (quad)
NA
CNTN6
sanders_11_ASD_discovery_controls-11928.s1
Paternal
Simplex (quad)
NA
RPL21P17
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
CNTN6
sanders_11_ASD_discovery_controls-11999.s1
Paternal
Simplex (quad)
NA
RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
sanders_11_ASD_discovery_controls-12007.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12130.s1
Maternal
Simplex (quad)
NA
CNTN4
sanders_11_ASD_discovery_controls-12184.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12184.s1
Paternal
Simplex (quad)
NA
CNTN4
sanders_11_ASD_discovery_controls-12189.s1
Paternal
Simplex (quad)
NA
CNTN6
sanders_11_ASD_discovery_controls-12235.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12331.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12424.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12438.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12462.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12540.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13035.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13162.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13251.s1
Maternal
Simplex (quad)
NA
RPL21P17
wang_10_ASD_discovery_controls-Aut46
Unknown
NA
NA
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
wang_10_ASD_discovery_controls-Aut99
Unknown
NA
NA
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
No Animal Model Data Available