4p16.3CNV Type: Deletion-Duplication
Largest CNV size: 286770 bp
Statistics Box:
Number of Reports: 42
Number of Reports: 42
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
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
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation...
Duplication
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
Duplication
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination 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.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
Diagnostic yield of patients with undiagnosed intellectual disability
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
3648847
2
0
2
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
323
1
1
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
3036764
1
0
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
140000
24
11
35
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
292708
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
352393
3
20
23
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
3304085
1
1
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.
740008
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
500000
17
4
21
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
279000
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
773585
0
4
4
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
3852916
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
1950000
1
0
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
153993
2
0
2
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
2325379
16
5
21
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
295176
2
4
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
522022
5
6
11
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
3856155
1
0
1
li_24_ADHD/DD_discovery_cases
Individuals recruited from the UDN Baylor College of Medicine (BCM) clinical site from whom induced neurons (iNeurons) were generated for RNA sequencing analysis.
71
Individuals in this cohort presented with primary neurological phenotypes/neurological disorders.
3856
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
214012
0
1
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
4170606
5
0
5
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
74100
2
0
2
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
45298
1
1
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
69914
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
39663
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
286770
1
1
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
1324203
0
8
8
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
22730
1
2
3
reis_17_ASD/ID_discovery_cases
Two siblings (one male, one female) with syndromic ASD who participated in an ongoing exome research study at the Autism Spectrum Disorder Program Clinic of the Psychiatric Institute of the University of Sao Paulo School of Medicine
2
The male sibling met criteria for a diagnosis of ASD according to DSM-5 criteria (CARS score 33.5), while the female sibling was diagnosed with intellectual disability and syndromic features (CARS score 24.0)
Range, 29-33 yrs.
50% Male
4600000
0
2
2
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
2814216
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
61432
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.
43136
0
4
4
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
264932
23
15
38
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
2675000
1
1
2
schonewolf-greulich_13_DD/ID_discovery_cases
Affected individuals from a three-generation family in which a 3 Mb duplication at 4p16.3 segregated with the phenotype
4
All four affected individuals presented with mild intellectual disability, speech delay, and macrocephaly
Range, 6 yrs.-N/A
25% Male
3000000
0
4
4
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
102202
1
0
1
tabet_15_ASD_discovery_cases
ASD cases carrying apparently balanced chromosomal abnormalities: 12 from the Paris Autism Research International Study (PARIS) family dataset, 6 referred by network of French cytogeneticists
18
All cases diagnosed with ASD: 16 cases fulfilled DSM-IV criteria for autistic disorder, 2 cases with previous diagnosis of ASD but that could not be formally evaluated for ASD in this study. DISCO-10, ADI-R, and/or ADOS used to evaluate patients.
Range, 4-30 years
77.78% Male
541076
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
56000
1
0
1
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
704431
0
1
1
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
2476623
0
1
1
xu_08_WAGR/ASD/DD/ID_discovery_cases
Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
31
All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
Range, 3-46 yrs.
45.16% Male
143800
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
304765
2
16
18
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
140000
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
346612
5
26
31
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.
740008
0
0
0
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
500000
0
0
0
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
740003
0
2
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
66527
0
3
3
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
295176
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
295176
3
2
5
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
25910
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
380776
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)
22730
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
43136
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
160847
10
13
23
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
84870
1
1
2
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
304765
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
li_24_ADHD/DD_discovery_cases
United States
RNA sequencing
Paired-end sequencing following library preparation performed with the Illumina TruSeq Stranded mRNA Library Prep Kit.
Sentieon/STAR-v2.7.10a, RNA-SeQC, IGV.
Whole genome sequencing/exome sequencing
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
reis_17_ASD/ID_discovery_cases
Brazil
aCGH
Agilent 180K
ADM-2
Agilent Feature Extraction 10.7.3.1
MLPA, 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
schonewolf-greulich_13_DD/ID_discovery_cases
Denmark
aCGH, MLPA
BACs aCGH (BlueGnome 1 Mb CytoChip BAC array v3)
MLPA, FISH
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
tabet_15_ASD_discovery_cases
France
Solid phase hybridization
Illumina Human CNV370-Duo BeadChip
Illumina CNV Partition (v1.3.2 or v2.4.4)
Illumina Bead Studio v3.2
qPCR, FISH
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
None
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
xu_08_WAGR/ASD/DD/ID_discovery_cases
N/A
aCGH
Agilent 4x44K, custom Agilent array
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case2A
10 yrs.
F
Developmental delay and intellectual disability
Global developmental delay, precocious puberty, mitral valve prolapse, small facies, hypotelorism, low-set ears, exophthalmos, prominent kyphosis.
Intellectual disability
68453
3717299
3648847
GRCh38
Deletion
No
akkus_24_ASD/DD/ID_discovery_cases-case34A
7 yrs.
M
Developmental delay/intellectual disability and epilepsy
Developmental delay/intellectual disability, epilepsy, neonatal hypotonia, strabismus, short philtrum.
Developmental delay/intellectual disability
68453
2052646
1984194
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
2059512
2059835
324
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11461
NA
M
ASD
NA
NA
2059512
2059835
324
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case331
N/A
M
Developmental delay and epilepsy
Developmental delay, epilepsy and facial dysmorphism
977090
4013853
3036764
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case649
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case650
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case651
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case652
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case653
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case654
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case655
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case656
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case657
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case658
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case659
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case660
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case661
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case662
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case663
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case664
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case665
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case666
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case667
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case668
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case669
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case670
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case671
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case672
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case673
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case674
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case675
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case676
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case677
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case678
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case679
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case680
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case681
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case682
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case683
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1868475
2008475
140001
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case448
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
2907712
3200419
292708
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13223_2463
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71674
207285
135612
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14031_580
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1719927
1810602
90676
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14035_630
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
94493
259015
164523
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14397_5060
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35863
141070
105208
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14398_5070
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17764
141070
123307
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16065_1571161001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16097_1571153001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18094_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20177_1698001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75090
433587
358498
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21019_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
432092
482918
50827
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2292_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3433_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
285607
346401
60795
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3510_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73616
123700
50085
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3617_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65650
133709
68060
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4360_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17764
133709
115946
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4511_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17764
133709
115946
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5136_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
330646
617415
286770
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5347_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17764
133709
115946
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5409_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133709
189489
55781
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6278_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17764
141070
123307
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8539_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75090
133709
58620
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8612_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63511
207285
143775
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8658_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79447
264838
185392
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000035
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S41
N/A
3903034
4128153
225120
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263569
N/A
M
Developmental delay and seizures
Intrauterine growth retardation; Febrile seizures; Feeding difficulties in infancy; Microcephaly; Global developmental delay; Deeply set eye; Flat nose; Shoulder dimples; Skin dimples; Macrotia; Inverted nipples; Pes planus; 2-3 toe syndactyly
71660
3373910
3302251
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si97
10
M
Autism
ADOS score: 10. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 87; Non-verbal IQ, 93.
588018
1328027
740010
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case1974
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1975
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1976
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1977
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1978
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1979
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1980
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1981
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1982
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1983
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1984
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1985
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1986
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1987
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1988
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1989
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1990
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1991
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1992
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1993
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1994
NA
NA
Developmental delay
NA
NA
1527471
2028475
501005
GRCh38
Duplication
NA
girirajan_13a_ASD_discovery_cases-11219.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
2908475
3188475
280001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-27705103506
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
554441
1025953
471513
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-40406106815
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
554441
1059374
504934
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-8905102822
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
588018
1092886
504869
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9505103679
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
554441
1328027
773587
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case19D1343
2 yrs. 9 mos.
M
Developmental delay
Facial dysmorphism, speech delay
68453
3921368
3852916
GRCh38
Deletion
No
hnoonual_17_ASD_discovery_cases-caseTU22
N/A
M
ASD and intellectual disability
Microcephaly, seizures
Intellectual disability
49556
1996059
1946504
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case30
2 yrs. 11 mos.
M
Intellectual disability
Speech delay, obesity, hypogenitalism
Mild intellectual disability
769002
922995
153994
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case31
2 yrs. 5 mos.
F
Intellectual disability
Speech delay, short stature, flat nasal bridge, muscle hypotonia, MRI abnormalities. Karyotype: 15phqh.
Intellectual disability
759007
912983
153977
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000786
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
113701
41147
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000823
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
2108607
2036053
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000842
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
620566
2958209
2337644
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000842
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51519
435002
383484
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001011
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
620566
2958209
2337644
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001011
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51519
435002
383484
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001173
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
1405362
1332808
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001248
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
2325477
2252923
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002385
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85149
634761
549613
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002636
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56878
2213205
2156328
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002713
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
336191
2213205
1877015
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56878
475382
418505
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003807
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
761448
688894
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004032
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1979219
1995442
16224
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004163
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
620625
548071
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004186
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1196923
2487080
1290158
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004425
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
2009034
1936480
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004584
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85149
1919505
1834357
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004647
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85149
2008535
1923387
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005107
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72355
2108748
2036394
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005349
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72355
2400359
2328005
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11060.p1
N/A
M
ASD
ASD proband from SSC quad family 11060. SRS score of 66.
Full-scale IQ (FSIQ) score of 100.
3444038
3448276
4239
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case11219.p1
N/A
M
ASD
ASD proband from SSC quad family 11219. SRS score of 51.
Full-scale IQ (FSIQ) score of 99.
2904763
3199939
295177
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case11700.p1
N/A
M
ASD
ASD proband from SSC quad family 11700. SRS score of 65.
Full-scale IQ (FSIQ) score of 88.
3445264
3448035
2772
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case11773.p1
N/A
M
ASD
ASD proband from SSC quad family 11773. SRS score of 90.
Full-scale IQ (FSIQ) score of 43.
2639734
2833834
194101
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12340.p1
N/A
F
ASD
ASD proband from SSC quad family 12340. SRS score of 90.
Full-scale IQ (FSIQ) score of 26.
1744947
1794043
49097
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12645.p1
N/A
M
ASD
ASD proband from SSC quad family 12645. SRS score of 90.
Full-scale IQ (FSIQ) score of 86.
824491
851974
27484
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11060.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3444038
3448276
4239
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11219.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2904763
3199939
295177
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11773.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2639734
2833834
194101
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12645.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
849672
851974
2303
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12875.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3444310
3448035
3726
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13050.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2963124
3013828
50705
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13083.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
672459
673403
945
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13302.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2926013
3448035
522023
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13516.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
3444310
3448035
3726
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13966.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3444038
3448276
4239
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14420.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
3444310
3448276
3967
GRCh38
Deletion
Yes
leite_22_DD/ID_discovery_cases-case023
1 yr.
F
Developmental delay
Short stature, global developmental delay, multiple stigmas, multiple congenital anomalies
68452
3924606
3856155
GRCh38
Deletion
No
li_24_ADHD/DD_discovery_cases-case11
26 yrs.
M
ADHD and developmental delay
Birth/neonatal history: maternal teratogenic exposure, premature birth, abnormal delivery. Developmental milestones: moderate global developmental delay. Motor and musculoskeletal evaluation: generalized hypotonia, myoclonus, pes planus, cervical kyphosis, myopathy, decreased muscle mass, myalgia, easy fatigability, muscle spasm, areflexia of the upper limbs, tics. Behavioral/psychiatric evaluation: attention deficit hyperactivity disorder. Additional medical history: astigmatism, myopia, asthma, mild neurosensory hearing loss. Dysmorphic features: narrow mouth, brachycephaly, square face, low-set ears, narrow nasal ridge, broad chin. Growth parameters: failure to thrive, microcephaly.
Memory impairment
1869269
1873124
3856
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0296-003
NA
M
ASD
NA
NA
345062
559073
214012
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530476
Developmental delay, intellectual disability, and seizures
Global developmental delay (HP:0001263), seizure (HP:0001250), abnormal facial shape (HP:0001999), microcephaly (HP:0000252)
Intellectual disability (HP:0001249).
1934910
2008946
74037
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530482
F
Developmental delay
Global developmental delay (HP:0001263), abnormal cardiovascular system morphology (HP:0030680), abnormal facial shape (HP:0001999), microcephaly (HP:0000252)
1
2570606
2570606
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530483
F
Developmental delay and seizures
Global developmental delay (HP:0001263), seizure (HP:0001250), abnormal facial shape (HP:0001999)
1
3820606
3820606
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530484
F
Developmental delay
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
1
4170606
4170606
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530485
F
Developmental delay and seizures
Global developmental delay (HP:0001263), seizure (HP:0001250), abnormal facial shape (HP:0001999), microcephaly (HP:0000252), orofacial cleft (HP:0000202)
1
3920606
3920606
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case11101
NA
ASD
NA
NA
27000
62000
35000
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case7501
NA
ASD
NA
NA
27000
101000
74100
Unknown
Deletion
No
mosca_16_DCD_discovery_cases-case106403
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
2776204
2821501
45298
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case126903
N/A
M
DCD/ADHD
Ancestry: European. Family history: maternal diagnosis ADHD and reading disorder; paternal diagnosis unaffected; sibling diagnosis ADHD and reading disorder.
201493
225749
24257
GRCh38
Deletion
No
o'roak_12_ASD_discovery_cases-case11093.p1
NA
M
ASD/Autism
Case also identified with de novo EFCAB8 and OPRL1 missense mutations. No additional clinical info available.
High IQ. Non verbal IQ, 91
57645
133709
76065
GRCh38
Duplication
Yes
pfundt_16_nonNDD_discovery_cases-case36
N/A
N/A
Non-NDD
Disease cohort: blindness. Description: PDE6B deletion
634676
674339
39664
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5136_4
NA
M
Autism
Language delay, no epilepsy, no dysmorphic features
Average IQ
330646
617415
286770
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5409_3
NA
M
ASD
NA
NA
133709
189489
55781
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI2957A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
85731
472608
386878
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
85731
472608
386878
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3571A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1272302; NDAR ID NDAR_INVPG937HCT)
85731
472608
386878
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
85731
472608
386878
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0933A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
85731
472608
386878
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1083A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU060303; NDAR ID NDAR_INVFG744LPG)
1004010
2320273
1316264
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1083A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU060303; NDAR ID NDAR_INVFG744LPG)
343780
960723
616944
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1083A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU060303; NDAR ID NDAR_INVFG744LPG)
2513670
3430974
917305
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100674L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
2466649
2487573
20925
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case45562
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
746746
769475
22730
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case77203
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1573933
1591561
17629
Unknown
Deletion
No
reis_17_ASD/ID_discovery_cases-case1
33 yrs.
M
ASD and intellectual disability
Case met criteria for a diagnosis of ASD according to DSM-5, CARS score of 33.5. Birth/neonatal history: uneventful pregnancy and vaginal delivery without complications; birth weight or length not available. Developmental milestones: case had spoken individual words only after 2 years of age and had stopped producing any words at all by 4 years of age; first steps at 2 years of age. Language and communication evaluation: able to understand simple commands, difficulty obeying some commands; absent speech (non-verbal, guttural sounds and screams are present), absence of functional communication. Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, kyphoscoliosis, symmetric but slightly diminished deep reflexes, discrete hypotonia, gait was symmetric with large steps. Behavioral/psychiatric evaluation: irritability (mainly in the morning), occasional autoaggressive or outwardly directed aggressive behavior; stereoypic movements, did not sustain eye contact or initiate interaction, agitation, unmotivated laughter, inappropriate social contact. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, crowded teeth, low-set ears, malformed ears, widely spaced nipples. Growth parameters: height 190 cm, weight 95.8 cm, OFC 60 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
Diagnosed with intellectual disability in 1992
71660
4671616
4599957
GRCh38
Duplication
Yes
reis_17_ASD/ID_discovery_cases-case2
29 yrs.
F
Intellectual disability
Birth/neonatal history: reported abdominal pain and vaginal bleeding during pregnancy; delivery by C-section; birth weight 4140 g, length 51 cm. Developmental milestones: first steps at 18 months of age, had not begun to produce speech until after 2 years of age. Language and communication evaluation: able to understand simple and some complex commands, uses imitation, verbal with simple sentences with substitutions (mostly "r" for "l"). Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, hypoplastic nails, kyphosis, exhibited some difficulty standing on one foot, gait was symmetric with large steps. Behavioral/psychiatric evaluation: CARS score of 24.0; presented eye contact and initiated interaction in an inappropriate form, quite puerlie with no functionality; psychomotor agitation (mainly in the mornings); occasionally aggressive, but affectionate and gentle most of the time; liked playing with other children; sometimes exhibited periods of inappropriate, hypersocial behavior and periods during which she could not stop talking; sleep difficulties. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, thin lips, crowded teeth, low-set ears, malformed ears. Growth parameters: height of 183 cm, weight of 91.5 kg, OFC 59 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
Diagnosed with intellectual disability in 1992
71660
4671616
4599957
GRCh38
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case19380
NA
NA
ASD
NA
NA
13419
2827635
2814216
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1314-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
206842
268273
61432
GRCh38
Duplication
No
salyakina_11_ASD_discovery_cases-7663_001
M
Autism
Possible seizures. Nonverbal.
Mental retardation
2732765
2775901
43137
GRCh38
Duplication
Yes
salyakina_11_ASD_discovery_cases-7663_100
M
Autism
Petit mal seizures. Nonverbal. Macrocephaly. Hyperextensibility
2732765
2775901
43137
GRCh38
Duplication
Yes
salyakina_11_ASD_discovery_cases-7663_132
M
Autism
OCD, social anxiety, narcolepsy, ADHD symptoms. Language delay.
2732765
2775901
43137
GRCh38
Duplication
Yes
salyakina_11_ASD_discovery_cases-7663_134
M
Autism
ADHD symptoms. Regression of purposive hand use and motor skills at 48 months for a duration of 120 months.
2732765
2775901
43137
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
17764
141070
123307
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11093.p1
8.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
57645
133709
76065
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
1807446
1840822
33377
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11264.p1
10.7
F
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
1493378
1609145
115768
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11305.p1
14.6
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
148766
189489
40724
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
2558263
2574613
16351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
1783298
1807923
24626
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
986676
993555
6880
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11469.p1
15.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 97; verbal IQ, 128
71674
133709
62036
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
73616
148766
75151
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
986676
996415
9740
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
71674
133709
62036
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11773.p1
13.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
2569969
2834901
264933
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11845.p1
5.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
1111892
1130250
18359
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11984.p1
5
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
17764
45414
27651
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12014.p1
6.3
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
148766
189489
40724
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
90996
102685
11690
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
1344830
1347511
2682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12153.p1
11.1
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
1344830
1347511
2682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12154.p1
4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
1110416
1130890
20475
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
1111892
1130250
18359
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
249767
255641
5875
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12356.p1
5.8
M
Aspergers
NA
Full-scale IQ, 113; non-verbal IQ, 104; verbal IQ, 123
1114619
1130250
15632
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12375.p1
15.9
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
71674
133709
62036
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12381.p1
6.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
148766
189489
40724
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12381.p1
6.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
79447
141070
61624
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12493.p1
15.3
F
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
79447
133709
54263
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12604.p1
4.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
1692204
1702815
10612
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12650.p1
6.4
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
71674
207285
135612
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12754.p1
7.9
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 125; verbal IQ, 115
148766
189489
40724
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
1111892
1130250
18359
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
744815
754022
9208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
71674
229563
157890
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
75090
133709
58620
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12969.p1
12.2
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
90996
165271
74276
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13050.p1
4.4
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 93; verbal IQ, 108
2961495
3019735
58241
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13166.p1
9.1
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
1111892
1130890
18999
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
744815
751184
6370
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case61
8 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Dysmorphism
72555
2745438
2672884
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case73
4 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability
45886
692691
646806
GRCh38
Duplication
No
schonewolf-greulich_13_DD/ID_discovery_cases-case1
6 yrs.
F
Developmental delay/intellectual disability
Birth/neonatal history: born normally after uncomplicated pregnancy. Birth parameters: weight of 3050 g (<50th %ile), length of 51 cm (>75th %ile), head circumference of 35 cm (>75th %ile). Developmental milestones: started to walk at 2 years of age; needed assistance from 3 years of age for speech delay and stuttering, as well as delays in social skills, fine motor skills, and gross motor skills. Motor and musculoskeletal evaluation: complains of repeated back ache treated with good results. Behavioral/psychiatric evaluation: suffered from lack of concentration; active and friendly. Epilepsy/seizures: none. Dysmorphic features: small eyes, thin vermillion of the upper lip, absent cupid bow, smooth philtrum, high palate, low-set and posteriorly angulated ears with slightly uplifted lobe, promixally placed thumbs. Growth parameters: height of 114 cm (90th %ile), weight of 22 kg (90th %ile), and head circumference of 53 cm (90th %ile) at age of 5 years. Family history: first child of non-consanguineous couple; mother, maternal uncle, and maternal grandmoter with similar phenotype.
Mild-to-borderline intellectual disability (IQ score of 74 using Weschler Nonverbal scale of Ability at age of 5 years); attended special school with support.
73753
3071241
2997489
GRCh38
Duplication
Yes
schonewolf-greulich_13_DD/ID_discovery_cases-case2
N/A
F
Developmental delay/intellectual disability
Birth parameters: weight of 3000 g, length of 51 cm. Developmental milestones: speech delay, learned to read at age of 13 years. Motor and musculoskeletal evaluation: kyphosis. Epilepsy/seizures: none. Dysmorphic features: prominent midface, thin vermillion of upper lip, smooth philtrum, high arched palate, absent crus of antihelix, uplifted ear lobe, small eyes, proximal placement of thumbs, long digits, radial clinodactyly of 2nd finger. Growth parameters: height of 1.76 m (97th %ile), head circumference of 56 cm (>90th %ile). Family history: daughter, brother, and mother with similar phenotype.
Mild intellectual disability; had received learning and speech support throughout school life.
73753
3071241
2997489
GRCh38
Duplication
No
schonewolf-greulich_13_DD/ID_discovery_cases-case3
N/A
M
Developmental delay/intellectual disability
Developmental milestones: speech and motor delay, received speech and physical therapy. Motor and musculoskeletal evaluation: kyphosis. Epilepsy/seizures: none. Dysmorphic features: pronounced asymmetry of the jaw, macrocephaly, prominent midface, prognathism, thin vermillion of upper lip, high palate, lowset and uplifted ear lobe, small eyes, proximal placement of thumbs, long digits, radial clinodactyly of 2nd finger. Growth parameters: height of 2.0 m (>97th %ile), head circumference of 60 cm (>97th %ile). Family history: niece, sister, and mother with similar phenotype.
Mild intellectual disability; attended normal school with difficulties until 9th grade.
73753
3071241
2997489
GRCh38
Duplication
No
schonewolf-greulich_13_DD/ID_discovery_cases-case4
N/A
F
Developmental delay/intellectual disability
Developmental milestones: speech delay. Epilepsy/seizures: none. Dysmorphic features: macrocephaly, prognathism, high arched palate, small eyes, long first finger. Growth parameters: height of 1.76 m (97th %ile), head circumference of 61 cm (>97th %ile). Family history: two children and one grandchild with similar phenotype.
Mild intellectual disability; attended normal school with difficulties until 9th grade but without support.
73753
3071241
2997489
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family26_Twin_2
N/A
N/A
NDD
Case is from a dizygotic twin pair from the Concordant NDD diagnostic group
271152
373353
102202
GRCh38
Deletion
No
tabet_15_ASD_discovery_cases-case1
4 yrs.
M
Autism
Diagnosis of autism (DISCO). Initital karyotype: 46,XY,der(4)t(4;acro p)(p16.3;acro p)dn. Langauge: functional language. Birth and early development: born at 42 weeks, birth weight +4.3 SD (gestational diabetes), neonatal hypoglycemia; normal motor milestones. Body measures: weight +2-3 SD and height +2-3 SD at 4 years. Dysmorphic features: no dysmorphic features; mild strabismus. Other: inguinal hernia. Brain MRI: not performed. Family history: second child of healthy non-consanguineous parents.
Verbal IQ of 67, performance IQ of 78, full-scale IQ of 69 (WPPSI-R, 34 months)
17764
565050
547287
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case83
F
ASD
Craniofacial dysmorphism, microcephaly, myopia, prominent ears, small forehead, carp mouth, single palmar crease, small hands, hypertonicity of extremities, ataxia, ASD
1761181
1816949
55769
GRCh38
Deletion
No
wang_18_TS_discovery_cases-caseM_Gre_25.p1
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 2 cohort; no additional clinical information available
3484543
4188973
704431
GRCh38
Duplication
No
wolfe_16_ID_discovery_cases-DECIPHER327134
33 yrs.
M
Intellectual disability and ASD
Psychiatric history: autistic spectrum disorder (ASD), alcohol abuse, on forensic in-patient section. Mini PAS-ADD evaluation: not available. BPI-S evaluation: not available. Medical history: constipation. Dysmorphic features: upward slanting palpebral fissures, macrotia, prognathia. Growth parameters: height 179 cm, head circumference 59 cm. Ethnicity: white (British).
Mild intellectual disability
116762
2591538
2474777
GRCh38
Duplication
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF22a
14 yrs.
M
WAGR syndrome and DD
Developmental delay, repetitive behavior, speech disorder
2249566
2393338
143773
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case161
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
66815
94493
27679
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case162
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
2144709
2153290
8582
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case163
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
2195204
2236209
41006
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case164
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3607663
3713923
106261
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case165
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case166
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case167
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case168
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case169
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case170
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case171
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case172
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case173
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case174
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case175
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case176
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case177
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case178
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3884069
4188833
304765
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB123947_1007876030
N/A
N/A
Control
No previous psychiatric history
17764
133709
115946
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB309618_1007853993
N/A
N/A
Control
No previous psychiatric history
173807
211308
37502
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB427853_1007853576
N/A
N/A
Control
No previous psychiatric history
17764
133709
115946
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB476509_1007853948
N/A
N/A
Control
No previous psychiatric history
71674
156885
85212
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB495273_1007872860
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB554479_1007854056
N/A
N/A
Control
No previous psychiatric history
17764
133709
115946
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB757128_1007874832
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB761425_1007853996
N/A
N/A
Control
No previous psychiatric history
121772
271152
149381
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB809518_0057061032
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB849884_1007854315
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
N/A
N/A
Control
No previous psychiatric history
17764
133709
115946
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900025_900025
N/A
N/A
Control
No previous psychiatric history
51181
133709
82529
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
N/A
N/A
Control
No previous psychiatric history
73616
133709
60094
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900140_900140
N/A
N/A
Control
No previous psychiatric history
75090
141070
65981
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900393_900393
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900403_900403
N/A
N/A
Control
No previous psychiatric history
63511
133709
70199
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900446_900446
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900498_900498
N/A
N/A
Control
No previous psychiatric history
448232
513212
64981
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900531_900531
N/A
N/A
Control
No previous psychiatric history
35863
133709
97847
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901207_901207
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902464_902464
N/A
N/A
Control
No previous psychiatric history
148766
189489
40724
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902546_902546
N/A
N/A
Control
No previous psychiatric history
65650
133709
68060
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902593_902593
N/A
N/A
Control
No previous psychiatric history
1622987
1703987
81001
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902664_902664
N/A
N/A
Control
No previous psychiatric history
148766
189489
40724
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902683_902683
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902690_902690
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
N/A
N/A
Control
No previous psychiatric history
71674
133709
62036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902751_902751
N/A
N/A
Control
No previous psychiatric history
63511
416226
352716
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902831_902831
N/A
N/A
Control
No previous psychiatric history
148766
189489
40724
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-10203100189
N/A
N/A
Control
Ethnicity: Caucasian
N/A
554441
1260806
706366
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-71704102974
N/A
N/A
Control
Ethnicity: Hispanic
N/A
554441
1294445
740005
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1793
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
1224811
1291337
66527
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split249
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
3923728
3980138
56411
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split620
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
3923728
3980138
56411
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11219.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11219. SRS score of 36.
2904763
3199939
295177
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11219.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
2904763
3199939
295177
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13083.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
672459
673403
945
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13871.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3444310
3448276
3967
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13966.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3444038
3448276
4239
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14373.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3444310
3448276
3967
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27962
Control
146019
171928
25910
Unknown
Duplication
poultney_13_ASD_discovery_controls-control05C43347
N/A
F
Control
NIMH Control (NIMH ID 27459)
85731
472608
386878
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11048.s1
8.1
M
Control (matched sibling)
NA
NA
73616
133709
60094
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11107.s1
3.7
M
Control (matched sibling)
NA
NA
1522203
1526039
3837
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
17764
133709
115946
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11201.s1
10.6
M
Control (matched sibling)
NA
NA
1797575
1807760
10186
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11305.s1
18.3
M
Control (matched sibling)
NA
NA
148766
189489
40724
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11404.s1
4.7
M
Control (matched sibling)
NA
NA
17764
133709
115946
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11474.s1
19
M
Control (matched sibling)
NA
NA
71674
141070
69397
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11489.s1
15.8
M
Control (matched sibling)
NA
NA
764570
785882
21313
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11599.s1
4.3
M
Control (matched sibling)
NA
NA
17764
133709
115946
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11913.s1
5.9
F
Control (matched sibling)
NA
NA
744815
747954
3140
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11966.s1
16.3
M
Control (matched sibling)
NA
NA
1114619
1130250
15632
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
17764
45414
27651
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12014.s1
4.3
M
Control (matched sibling)
NA
NA
148766
189489
40724
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12032.s1
7.2
F
Control (matched sibling)
NA
NA
17764
63511
45748
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
1111892
1130250
18359
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12274.s1
7.6
F
Control (matched sibling)
NA
NA
121772
288710
166939
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
35863
133709
97847
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12356.s1
7.8
F
Control (matched sibling)
NA
NA
1114619
1130250
15632
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12375.s1
7.5
F
Control (matched sibling)
NA
NA
71674
141070
69397
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12381.s1
7.5
F
Control (matched sibling)
NA
NA
148766
189489
40724
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12858.s1
6.3
F
Control (matched sibling)
NA
NA
71674
229563
157890
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
90996
165271
74276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
744815
754022
9208
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family1_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
957933
1025524
67592
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
N/A
N/A
Control
Control is from a dizygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
946095
1030964
84870
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case2A
Unknown
ADD1,ATP5ME,DGKQ,FGFR3,CTBP1,FGFRL1,NKX1-1,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,ABCA11P,SLC49A3,TMEM175,TMEM129,CTBP1-DT,FAM53A,ZNF595,ZNF721,HGFAC,HTT,GRK4,IDUA,GAK,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,NOP14-AS1,RNF212,MSANTD1,POLN,C4orf48,CFAP99,ZNF876P,MIR571,ZNF732,SCARNA22,MIR943,LRPAP1,MYL5,LETM1,LINC02171,TMED11P,COX6B1P5,MIR4800,HTT-AS,RNF4,RGS12,PDE6B,PDE6B-AS1,NSD2,NELFA,SH3BP2,RN7SL589P,RNU6-204P,ZNF519P4,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
akkus_24_ASD/DD/ID_discovery_cases-case34A
Unknown
ATP5ME,DGKQ,FGFR3,CTBP1,FGFRL1,NKX1-1,PIGG,UVSSA,ABCA11P,SLC49A3,TMEM175,TMEM129,CTBP1-DT,FAM53A,ZNF595,ZNF721,IDUA,GAK,ZNF718,CTBP1-AS,RNF212,C4orf48,ZNF876P,MIR571,ZNF732,SCARNA22,MIR943,MYL5,LETM1,TMED11P,PDE6B,PDE6B-AS1,NSD2,NELFA,ZNF519P4,TMEM271,SLBP,ZNF141,CPLX1,PCGF3,MAEA,TACC3,SPON2,SLC26A1
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
NAT8L
celestino-soper_11_ASD_discovery_cases-11461
Unknown
Simplex
NA
NAT8L
chaves_19_ASD/DD/ID_discovery_cases-case331
Unknown
NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TACC3,TMEM129,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,SPON2,MAEA,SLBP,LETM1,NSD2,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HAUS3,HTT
coe_14_ASD/DD/ID_discovery_cases-case649
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case650
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case651
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case652
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case653
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case654
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case655
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case656
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case657
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case658
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case659
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case660
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case661
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case662
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case663
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case664
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case665
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case666
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case667
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case668
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case669
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case670
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case671
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case672
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case673
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case674
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case675
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case676
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case677
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case678
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case679
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case680
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case681
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case682
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
coe_14_ASD/DD/ID_discovery_cases-case683
Unknown
Unknown
Unknown
SCARNA22,MIR943,NELFA,NSD2
cucinotta_23_ASD_discovery_cases-case448
Paternal
ADD1,HTT,GRK4,NOP14-AS1,HTT-AS,RNU6-204P,NOP14,MFSD10
engchuan_15_ASD_discovery_cases-case13223_2463
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case14031_580
Unknown
TMEM129,TACC3,FGFR3
engchuan_15_ASD_discovery_cases-case14035_630
Unknown
ZNF876P,ZNF718
engchuan_15_ASD_discovery_cases-case14397_5060
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case14398_5070
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case16065_1571161001
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case16097_1571153001
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case18094_301
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case20177_1698001
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
engchuan_15_ASD_discovery_cases-case21019_1
Unknown
ABCA11P,ZNF721
engchuan_15_ASD_discovery_cases-case2292_1
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case3433_3
Unknown
ZNF732,ZNF141
engchuan_15_ASD_discovery_cases-case3510_3
Unknown
ZNF595
engchuan_15_ASD_discovery_cases-case3617_3
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case4360_1
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case4511_1
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case5136_4
Unknown
MIR571,ZNF519P4,TMEM271,ZNF141,ABCA11P,ZNF721,PIGG
engchuan_15_ASD_discovery_cases-case5347_3
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case5409_3
Unknown
ZNF718
engchuan_15_ASD_discovery_cases-case6278_3
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case8539_201
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case8612_201
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_cases-case8658_201
Unknown
ZNF595,ZNF876P,ZNF718
fitzgerald_14_ASD/DD/ID_discovery_cases-case000035
De novo
Unknown
Unknown
ALG1L7P,ENPP7P9,OR4D12P,FAM86EP
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263569
De novo
Multiplex
Not segregated
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HTT
girirajan_11_ASD_discovery_cases-Si97
Unknown
Simplex
ATP5ME,MYL5,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,PDE6B,CPLX1,GAK,SPON2,MAEA
girirajan_12_ASD/DD/ID_discovery_cases-case1974
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1975
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1976
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1977
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1978
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1979
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1980
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1981
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1982
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1983
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1984
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1985
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1986
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1987
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1988
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1989
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1990
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1991
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1992
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1993
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_12_ASD/DD/ID_discovery_cases-case1994
NA
Unknown
Unknown
Unknown
SCARNA22,MIR943,FAM53A,TMEM129,TACC3,FGFR3,NELFA,SLBP,LETM1,NSD2
girirajan_13a_ASD_discovery_cases-11219.p1
Unknown
Simplex
Unknown
RNU6-204P,MFSD10,NOP14-AS1,NOP14,HTT-AS,ADD1,GRK4,HTT
girirajan_13b_ASD_discovery_cases-27705103506
Unknown
Unknown
Unknown
TMEM271,ATP5ME,MYL5,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,PDE6B,CPLX1,GAK
girirajan_13b_ASD_discovery_cases-40406106815
Unknown
Unknown
Unknown
TMEM271,ATP5ME,MYL5,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,PDE6B,CPLX1,GAK
girirajan_13b_ASD_discovery_cases-8905102822
Unknown
Unknown
Unknown
ATP5ME,MYL5,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,PDE6B,CPLX1,GAK
girirajan_13b_ASD_discovery_cases-9505103679
Unknown
Unknown
Unknown
TMEM271,ATP5ME,MYL5,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,PDE6B,CPLX1,GAK,SPON2,MAEA
han_22_ASD/DD/ID_discovery_cases-case19D1343
De novo
ADD1,ADRA2C,ATP5ME,DGKQ,FGFR3,CTBP1,FGFRL1,NKX1-1,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,ABCA11P,SLC49A3,TMEM175,TMEM129,CTBP1-DT,FAM53A,ZNF595,ZNF721,HGFAC,HTT,GRK4,IDUA,GAK,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,NOP14-AS1,RNF212,MSANTD1,POLN,C4orf48,CFAP99,OR7E162P,ZNF876P,MIR571,ZNF732,SCARNA22,MIR943,LRPAP1,MYL5,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,MIR4800,HTT-AS,RNF4,RGS12,PDE6B,PDE6B-AS1,NSD2,NELFA,SH3BP2,RN7SL589P,RNU6-204P,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
hnoonual_17_ASD_discovery_cases-caseTU22
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,BNIP3P41,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2
iourov_12_ASD/ID/EP_discovery_cases-case30
Unknown
Unknown
Unknown
PCGF3,CPLX1,GAK
iourov_12_ASD/ID/EP_discovery_cases-case31
Unknown
Unknown
Unknown
PCGF3,CPLX1,GAK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000786
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZNF595
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000823
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,POLN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000842
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,POLN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000842
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001011
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,POLN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001011
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001173
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001248
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,POLN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002385
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718,PIGG,PDE6B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002636
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,POLN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002713
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,POLN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003807
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,ZNF718,PIGG,PDE6B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004032
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR943,NELFA,NSD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004163
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718,PIGG
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004186
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,POLN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004425
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004584
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004647
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005107
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,POLN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005349
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,POLN
krumm_13_ASD_discovery_cases-case11060.p1
Paternal
Simplex
Segregated
HGFAC
krumm_13_ASD_discovery_cases-case11219.p1
Maternal
Simplex
Not segregated
RNU6-204P,MFSD10,NOP14-AS1,NOP14,HTT-AS,ADD1,GRK4,HTT
krumm_13_ASD_discovery_cases-case11700.p1
Maternal
Simplex
Segregated
HGFAC
krumm_13_ASD_discovery_cases-case11773.p1
Maternal
Simplex
Segregated
SH3BP2,FAM193A,TNIP2
krumm_13_ASD_discovery_cases-case12340.p1
Paternal
Simplex
Segregated
TACC3,FGFR3
krumm_13_ASD_discovery_cases-case12645.p1
Maternal
Simplex
Segregated
CPLX1,GAK
krumm_15_ASD_discovery_cases-case11060.p1
Illumina 1M
Paternal
Simplex
Segregated
HGFAC
krumm_15_ASD_discovery_cases-case11219.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RNU6-204P,MFSD10,NOP14-AS1,NOP14,HTT-AS,ADD1,GRK4,HTT
krumm_15_ASD_discovery_cases-case11773.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SH3BP2,FAM193A,TNIP2
krumm_15_ASD_discovery_cases-case12645.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GAK
krumm_15_ASD_discovery_cases-case12875.p1
1M-Duov3
Paternal
Simplex
Segregated
HGFAC
krumm_15_ASD_discovery_cases-case13050.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
NOP14,GRK4
krumm_15_ASD_discovery_cases-case13083.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ATP5ME
krumm_15_ASD_discovery_cases-case13302.p1
1M-Duov3
Maternal
Simplex
Segregated
RNU6-204P,HGFAC,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,ADD1,GRK4,RGS12,HTT
krumm_15_ASD_discovery_cases-case13516.p1
1M-Duov3
Paternal
Simplex
Segregated
HGFAC
krumm_15_ASD_discovery_cases-case13966.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
HGFAC
krumm_15_ASD_discovery_cases-case14420.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
HGFAC
leite_22_DD/ID_discovery_cases-case023
De novo
ADD1,ADRA2C,ATP5ME,DGKQ,FGFR3,CTBP1,FGFRL1,NKX1-1,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,ABCA11P,SLC49A3,TMEM175,TMEM129,CTBP1-DT,FAM53A,ZNF595,ZNF721,HGFAC,HTT,GRK4,IDUA,GAK,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,NOP14-AS1,RNF212,MSANTD1,POLN,C4orf48,CFAP99,OR7E162P,ZNF876P,MIR571,ZNF732,SCARNA22,MIR943,LRPAP1,MYL5,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,MIR4800,HTT-AS,RNF4,RGS12,PDE6B,PDE6B-AS1,NSD2,NELFA,SH3BP2,RN7SL589P,RNU6-204P,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
li_24_ADHD/DD_discovery_cases-case11
Whole genome sequencing/exome sequencing
Unknown
NSD2
Reduced NSD2 RNA transcript expression (0.53 fold change).
marshall_08_ASD_discovery_cases-MM0296-003
qPCR, qmPCR
Unknown
NA
NA
MIR571,ZNF519P4,ZNF141,ABCA11P,ZNF721,PIGG
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530476
Unknown
SCARNA22,MIR943,NSD2,NELFA
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530482
Unknown
ATP5ME,DGKQ,FGFR3,CTBP1,FGFRL1,NKX1-1,PIGG,UVSSA,ZFYVE28,HAUS3,ABCA11P,SLC49A3,TMEM175,TMEM129,CTBP1-DT,FAM53A,ZNF595,ZNF721,IDUA,GAK,ZNF718,NAT8L,CTBP1-AS,RNF212,POLN,C4orf48,CFAP99,ZNF876P,MIR571,ZNF732,SCARNA22,MIR943,MYL5,LETM1,TMED11P,COX6B1P5,MIR4800,BNIP3P41,RNF4,PDE6B,PDE6B-AS1,NSD2,NELFA,RN7SL589P,ZNF519P4,TMEM271,FAM193A,SLBP,ZNF141,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530483
Unknown
ADD1,ADRA2C,ATP5ME,DGKQ,FGFR3,CTBP1,FGFRL1,NKX1-1,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,ABCA11P,SLC49A3,TMEM175,TMEM129,CTBP1-DT,FAM53A,ZNF595,ZNF721,HGFAC,HTT,GRK4,IDUA,GAK,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,NOP14-AS1,RNF212,MSANTD1,POLN,C4orf48,CFAP99,ZNF876P,MIR571,ZNF732,SCARNA22,MIR943,LRPAP1,MYL5,LETM1,LINC02171,TMED11P,COX6B1P5,MIR4800,HTT-AS,BNIP3P41,RNF4,RGS12,PDE6B,PDE6B-AS1,NSD2,NELFA,SH3BP2,RN7SL589P,RNU6-204P,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530484
Unknown
ADD1,ADRA2C,ATP5ME,DGKQ,FGFR3,CTBP1,FGFRL1,NKX1-1,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,OR7E99P,ABCA11P,SLC49A3,TMEM175,TMEM129,CTBP1-DT,FAM53A,ZNF595,ZNF721,HGFAC,HTT,GRK4,IDUA,GAK,OR7E103P,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,NOP14-AS1,RNF212,MSANTD1,FAM86EP,POLN,C4orf48,CFAP99,OR7E162P,ZNF876P,UNC93B4,MIR571,ALG1L7P,ZNF732,RPS3AP16,SCARNA22,MIR943,LRPAP1,MYL5,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,ENPP7P9,MIR4800,HTT-AS,BNIP3P41,RNF4,RGS12,PDE6B,PDE6B-AS1,NSD2,NELFA,SH3BP2,RN7SL589P,RNU6-204P,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530485
Unknown
ADD1,ADRA2C,ATP5ME,DGKQ,FGFR3,CTBP1,FGFRL1,NKX1-1,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,ABCA11P,SLC49A3,TMEM175,TMEM129,CTBP1-DT,FAM53A,ZNF595,ZNF721,HGFAC,HTT,GRK4,IDUA,GAK,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,NOP14-AS1,RNF212,MSANTD1,POLN,C4orf48,CFAP99,OR7E162P,ZNF876P,MIR571,ZNF732,SCARNA22,MIR943,LRPAP1,MYL5,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,MIR4800,HTT-AS,BNIP3P41,RNF4,RGS12,PDE6B,PDE6B-AS1,NSD2,NELFA,SH3BP2,RN7SL589P,RNU6-204P,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
morrow_08_ASD_discovery_cases-case11101
Paternal
NA
NA
ZNF718, ZNF595
morrow_08_ASD_discovery_cases-case7501
Paternal
NA
NA
ZNF718, ZNF595
mosca_16_DCD_discovery_cases-case106403
Unknown
Unknown
Unknown
SH3BP2
mosca_16_DCD_discovery_cases-case126903
Unknown
Multi-generational
Unknown
ZNF876P,ZNF718
o'roak_12_ASD_discovery_cases-case11093.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
ZNF595,ZNF718
pfundt_16_nonNDD_discovery_cases-case36
MLPA or MAQ
ATP5ME,MYL5,PDE6B
pinto_10_ASD_discovery_cases-case5136_4
Agilent1M
paternal
Multiplex
Unknown
MIR571,ZNF519P4,TMEM271,ZNF141,ABCA11P,ZNF721,PIGG
pinto_10_ASD_discovery_cases-case5409_3
Agilent1M
paternal
NA
NA
ZNF718
poultney_13_ASD_discovery_cases-case04HI2957A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
poultney_13_ASD_discovery_cases-case05HI3571A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
poultney_13_ASD_discovery_cases-case99HI0933A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
poultney_13_ASD_discovery_cases-case99HI1083A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,POLN
poultney_13_ASD_discovery_cases-case99HI1083A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,PIGG,PDE6B,CPLX1,GAK
poultney_13_ASD_discovery_cases-case99HI1083A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-204P,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,HTT
prasad_12_ASD_discovery_cases-case100674L
Unknown
Unknown
Unknown
RNF4
prasad_12_ASD_discovery_cases-case45562
Unknown
Unknown
Unknown
LOC100129917,PCGF3,CPLX1
prasad_12_ASD_discovery_cases-case77203
Unknown
Unknown
Unknown
0 genes
reis_17_ASD/ID_discovery_cases-case1
MLPA, FISH
De novo
Multiplex
Segregated
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,POLN,HTT,OTOP1
reis_17_ASD/ID_discovery_cases-case2
MLPA, FISH
De novo
Multiplex
Segregated
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,POLN,HTT,OTOP1
rosenfeld_10_ASD_discovery_cases-case19380
FISH
Unknown
Unknown
Unknown
ZNF595,ZNF718,ZNF732,ZNF141,ZNF721,PIGG,PDE6B,ATP5I,MYL5,MFSD7,PCGF3,CPLX1,GAK,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,SPON2,CTBP1,MAEA,KIAA1530,CRIPAK,FAM53A,SLBP,TMEM129,TACC3,FGFR3,LETM1,WHSC1,WHSC2,C4orf48,NAT8L,POLN,HAUS3,MXD4,ZFYVE28,LOC402160,RNF4,FAM193A,TNIP2,SH3BP2,ADD1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1314-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
ZNF876P
salyakina_11_ASD_discovery_cases-7663_001
qPCR
Maternal
Multiplex
Segregated
TNIP2
salyakina_11_ASD_discovery_cases-7663_100
qPCR
Maternal
Multiplex
Segregated
TNIP2
salyakina_11_ASD_discovery_cases-7663_132
qPCR
Maternal
Multiplex (half-brother with autism)
Segregated
TNIP2
salyakina_11_ASD_discovery_cases-7663_134
qPCR
Maternal
Multiplex (half-brother with autism)
Segregated
TNIP2
sanders_11_ASD_discovery_cases-11048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BNIP3P41,ZNF595,ZNF718
sanders_11_ASD_discovery_cases-11093.p1
Maternal
Simplex (quad-proband matched)
Segregated
ZNF595,ZNF718
sanders_11_ASD_discovery_cases-11158.p1
Unknown
Simplex (quad-proband matched)
Segregated
FGFR3,LETM1
sanders_11_ASD_discovery_cases-11264.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11305.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF718
sanders_11_ASD_discovery_cases-11355.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNF4,FAM193A
sanders_11_ASD_discovery_cases-11439.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FGFR3
sanders_11_ASD_discovery_cases-11439.p1
Maternal
Simplex (quad-proband matched)
Segregated
DGKQ,SLC26A1,IDUA
sanders_11_ASD_discovery_cases-11469.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF595,ZNF718
sanders_11_ASD_discovery_cases-11599.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF595,ZNF718
sanders_11_ASD_discovery_cases-11622.p1
Both parents
Simplex (quad-proband matched)
Segregated
DGKQ,SLC26A1,IDUA
sanders_11_ASD_discovery_cases-11696.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF595,ZNF718
sanders_11_ASD_discovery_cases-11773.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SH3BP2,RNF4,FAM193A,TNIP2
sanders_11_ASD_discovery_cases-11845.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNF212,TMED11P
sanders_11_ASD_discovery_cases-11984.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12014.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF718
sanders_11_ASD_discovery_cases-12113.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12118.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UVSSA
sanders_11_ASD_discovery_cases-12153.p1
Both parents
Simplex (quad-proband matched)
Not segregated
UVSSA
sanders_11_ASD_discovery_cases-12154.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RNF212,TMED11P
sanders_11_ASD_discovery_cases-12287.p1
Unknown
Simplex (trio)
NA
RNF212,TMED11P
sanders_11_ASD_discovery_cases-12355.p1
Maternal
Simplex (trio)
NA
ZNF876P
sanders_11_ASD_discovery_cases-12356.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TMED11P
sanders_11_ASD_discovery_cases-12375.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF595,ZNF718
sanders_11_ASD_discovery_cases-12381.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF718
sanders_11_ASD_discovery_cases-12381.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF595,ZNF718
sanders_11_ASD_discovery_cases-12493.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
ZNF595,ZNF718
sanders_11_ASD_discovery_cases-12604.p1
Paternal
Simplex (trio)
NA
SLBP
sanders_11_ASD_discovery_cases-12650.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF595,ZNF718
sanders_11_ASD_discovery_cases-12754.p1
Maternal
Simplex (trio)
NA
ZNF718
sanders_11_ASD_discovery_cases-12757.p1
Paternal
Simplex (trio)
NA
RNF212,TMED11P
sanders_11_ASD_discovery_cases-12757.p1
Unknown
Simplex (trio)
NA
PCGF3
sanders_11_ASD_discovery_cases-12858.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF595,ZNF876P,ZNF718
sanders_11_ASD_discovery_cases-12948.p1
Paternal
Simplex (trio)
NA
ZNF595,ZNF718
sanders_11_ASD_discovery_cases-12969.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF718
sanders_11_ASD_discovery_cases-13050.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NOP14-AS1,NOP14,GRK4
sanders_11_ASD_discovery_cases-13166.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNF212,TMED11P
sanders_11_ASD_discovery_cases-13195.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCGF3
sansovic_17_DD/ID/ASD_discovery_cases-case61
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,POLN
sansovic_17_DD/ID/ASD_discovery_cases-case73
Paternal
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,BNIP3P41,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,ZNF718,PIGG,PDE6B
schonewolf-greulich_13_DD/ID_discovery_cases-case1
MLPA, FISH
Maternal
Maternal
Multi-generational
Segregated
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,POLN,HTT
schonewolf-greulich_13_DD/ID_discovery_cases-case2
Maternal
Maternal
Multi-generational
Segregated
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,POLN,HTT
schonewolf-greulich_13_DD/ID_discovery_cases-case3
Maternal
Maternal
Multi-generational
Segregated
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,POLN,HTT
schonewolf-greulich_13_DD/ID_discovery_cases-case4
Unknown
Unknown
Multi-generational
Segregated
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,POLN,HTT
stamouli_18_ASD/NDD_discovery_cases-family26_Twin_2
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
MIR571,ZNF732,ZNF141
tabet_15_ASD_discovery_cases-case1
qPCR, FISH
De novo
Simplex
Segregated
MIR571,ZNF519P4,BNIP3P41,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718,PIGG
tzetis_12_DD/ID_discovery_cases-case83
Unknown
Unknown
FGFR3,LETM1
wang_18_TS_discovery_cases-caseM_Gre_25.p1
CNV validation not attempted
De novo
LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,OTOP1
wolfe_16_ID_discovery_cases-DECIPHER327134
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,POLN
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF22a
De novo
Possibly segregated
MIR4800,RN7SL589P,MXD4,ZFYVE28
yin_16_ASD_discovery_cases-case161
Unknown
Unknown
Unknown
ZNF595
yin_16_ASD_discovery_cases-case162
Unknown
Unknown
Unknown
POLN
yin_16_ASD_discovery_cases-case163
Unknown
Unknown
Unknown
COX6B1P5,HAUS3,POLN
yin_16_ASD_discovery_cases-case164
Unknown
Unknown
Unknown
LINC02171
yin_16_ASD_discovery_cases-case165
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case166
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case167
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case168
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case169
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case170
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case171
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case172
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case173
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case174
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case175
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case176
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case177
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
yin_16_ASD_discovery_cases-case178
Unknown
Unknown
Unknown
OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,FAM86EP,UNC93B4,OTOP1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB123947_1007876030
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlB309618_1007853993
Unknown
ZNF718
engchuan_15_ASD_discovery_controls-controlB427853_1007853576
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlB476509_1007853948
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlB495273_1007872860
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlB554479_1007854056
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlB757128_1007874832
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlB761425_1007853996
Unknown
ZNF876P,ZNF732,ZNF718
engchuan_15_ASD_discovery_controls-controlB809518_0057061032
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlB849884_1007854315
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_900025_900025
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_900140_900140
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_900393_900393
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_900403_900403
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_900446_900446
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_900498_900498
Unknown
ABCA11P,ZNF721,PIGG
engchuan_15_ASD_discovery_controls-controlHABC_900531_900531
Unknown
BNIP3P41,ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_901207_901207
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_902464_902464
Unknown
ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_902546_902546
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_902593_902593
Unknown
FAM53A,SLBP
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_902664_902664
Unknown
ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_902683_902683
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_902690_902690
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
Unknown
ZNF595,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_902751_902751
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ZNF718
engchuan_15_ASD_discovery_controls-controlHABC_902831_902831
Unknown
ZNF718
girirajan_13b_ASD_discovery_controls-10203100189
Unknown
TMEM271,ATP5ME,MYL5,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,PDE6B,CPLX1,GAK,SPON2
girirajan_13b_ASD_discovery_controls-71704102974
Unknown
TMEM271,ATP5ME,MYL5,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,PDE6B,CPLX1,GAK,SPON2,MAEA
kanduri_15_ASD_discovery_controls-control_split1793
Unknown
CTBP1,MAEA
kanduri_15_ASD_discovery_controls-control_split249
Unknown
FAM86EP (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split620
Unknown
FAM86EP (non-coding RNA, exonic)
krumm_13_ASD_discovery_controls-control11219.s1
Maternal
Simplex
RNU6-204P,MFSD10,NOP14-AS1,NOP14,HTT-AS,ADD1,GRK4,HTT
krumm_15_ASD_discovery_controls-control11219.s1
Illumina 1M
Maternal
RNU6-204P,MFSD10,NOP14-AS1,NOP14,HTT-AS,ADD1,GRK4,HTT
krumm_15_ASD_discovery_controls-control13083.s1
Illumina 1MDuo
Maternal
ATP5ME
krumm_15_ASD_discovery_controls-control13871.s1
Omni2.5-4v1
Maternal
HGFAC
krumm_15_ASD_discovery_controls-control13966.s1
Omni2.5-4v1
Paternal
HGFAC
krumm_15_ASD_discovery_controls-control14373.s1
Omni2.5-4v1
Maternal
HGFAC
nord_11_ASD_discovery_controls-04C27962
ZNF718
poultney_13_ASD_discovery_controls-control05C43347
Unknown
MIR571,ZNF519P4,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,ZNF718
sanders_11_ASD_discovery_controls-11048.s1
Paternal
Simplex (quad)
NA
ZNF595,ZNF718
sanders_11_ASD_discovery_controls-11107.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11194.s1
Paternal
Simplex (quad)
NA
BNIP3P41,ZNF595,ZNF718
sanders_11_ASD_discovery_controls-11201.s1
Unknown
Simplex (quad)
NA
FGFR3
sanders_11_ASD_discovery_controls-11305.s1
Paternal
Simplex (quad)
NA
ZNF718
sanders_11_ASD_discovery_controls-11404.s1
Maternal
Simplex (quad)
NA
BNIP3P41,ZNF595,ZNF718
sanders_11_ASD_discovery_controls-11474.s1
Maternal
Simplex (quad)
NA
ZNF595,ZNF718
sanders_11_ASD_discovery_controls-11489.s1
Paternal
Simplex (quad)
NA
PCGF3,CPLX1
sanders_11_ASD_discovery_controls-11599.s1
Maternal
Simplex (quad)
NA
BNIP3P41,ZNF595,ZNF718
sanders_11_ASD_discovery_controls-11913.s1
Unknown
Simplex (quad)
NA
PCGF3
sanders_11_ASD_discovery_controls-11966.s1
Unknown
Simplex (quad)
NA
TMED11P
sanders_11_ASD_discovery_controls-11989.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12014.s1
Maternal
Simplex (quad)
NA
ZNF718
sanders_11_ASD_discovery_controls-12032.s1
Paternal
Simplex (quad)
NA
BNIP3P41,ZNF595
sanders_11_ASD_discovery_controls-12220.s1
Paternal
Simplex (quad)
NA
RNF212,TMED11P
sanders_11_ASD_discovery_controls-12274.s1
Paternal
Simplex (quad)
NA
ZNF876P,ZNF732,ZNF718
sanders_11_ASD_discovery_controls-12341.s1
Maternal
Simplex (quad)
NA
BNIP3P41,ZNF595,ZNF718
sanders_11_ASD_discovery_controls-12356.s1
Unknown
Simplex (quad)
NA
TMED11P
sanders_11_ASD_discovery_controls-12375.s1
Maternal
Simplex (quad)
NA
ZNF595,ZNF718
sanders_11_ASD_discovery_controls-12381.s1
Paternal
Simplex (quad)
NA
ZNF718
sanders_11_ASD_discovery_controls-12858.s1
Maternal
Simplex (quad)
NA
ZNF595,ZNF876P,ZNF718
sanders_11_ASD_discovery_controls-12969.s1
Maternal
Simplex (quad)
NA
ZNF718
sanders_11_ASD_discovery_controls-13183.s1
Paternal
Simplex (quad)
NA
PCGF3
stamouli_18_ASD/NDD_discovery_controls-family1_Twin_2
Unknown
Simplex
TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
Unknown
N/A (both twins typically developing)
TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1
No Animal Model Data Available