9q34.3CNV Type: Deletion-Duplication
Largest CNV size: 392121 bp
Statistics Box:
Number of Reports: 50
Number of Reports: 50
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion-Duplication
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
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-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
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
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
Deletion-Duplication
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Duplication
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
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
1308698
2
0
2
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
58864
1
0
1
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
1915403
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
4938
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
1140857
3
0
3
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
90000
0
1
1
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
2056000
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
704212
0
1
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
3200000
5
6
11
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
1630988
2
0
2
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
500000
1
0
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
1096068
1
22
23
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
182000
1
0
1
gabriele_17_DD/ID_discovery_cases
Individuals with deletions encompassing the YY1 gene identified within the DECIPHER database and an in-house database containing data from over 8,000 individuals with intellectual disability
13
Recurrent phenotypes of individuals with YY1 deletions included developmental delay, intellectual disability, intrauterine growth retardation, feeding problems, and dysmorphic features
N/A
N/A
230347
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
23512
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
1871111
0
2
2
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
3250000
18
8
26
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
323000
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
605019
0
2
2
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
812057
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
187335
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2144328
19
2
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
86511
2
2
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
438957
3
6
9
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
704211
0
5
5
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
340074
1
1
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
630000
1
1
2
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
1421718
2
1
3
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
561123
2
0
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
330876
1
0
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
1315017
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
159252
1
4
5
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
750069
1
0
1
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)
232936
0
3
3
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
51397
3
2
5
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
305997
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
2344738
1
2
3
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
4
3
7
rots_24_ASD/ADHD/DD/ID_discovery_cases
Individuals from 10 families with heterozygous 9q34.3 microduplications <1.5 Mb in size encompassing the entire EHMT1 gene who were collected via the Radboudumc expertise center, international collaborations, and literature.
15
Clinical features included autism spectrum disorder (ASD) or autistic features, attention deficit hyperactivity disorder (ADHD), mild developmental delay (DD), and mild intellectual disability (ID) or learning problems.
Range, 3-61 yrs.
66.67% Male
1365173
0
15
15
rots_24_ASD/DD/ID_discovery_cases
Individuals with 9q34.3 deletions or duplications from an initial cohort of 125 previously unreported patients with variants affecting the EHMT1 gene.
41
Individuals with 9q34.3 deletions or duplications frequently presented with autism spectrum disorder (ASD), developmental delay, intellectual disability, and/or seizures.
Range, newborn-53 yrs.
39.02% Male
6008710
38
2
40
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
918198
5
5
10
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
392121
33
12
45
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
855000
1
0
1
schmidt_24_ASD/DD/ID_discovery_cases
Patients who had undergone exome sequencing and were partially analyzed with next-generation phenotyping approaches enrolled in the TRANSLATE NAMSE prospective study at ten German university hospitals.
1577
The majority of children were assigned to the disease category neurodevelopmental disorders (n=702, 54%); patient phenotypes were also annotated with terms of the Human Phenotype Ontology (HPO) by the respective CRD physicians.
268 adults, 1309 children
118328
0
1
1
sheth_23_ASD_discovery_cases
Population-based cohort of patient-parent trios with ASD from India.
101
Cases diagnosed with ASD based on DSM-5 criteria.
Average age at diagnosis: 5 +/- 3 yrs.
71.29% Male
195238
1
0
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
70000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
1005412
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)
3120000
2
1
3
werling_19_ASD_discovery_cases
Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
108
Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
86.11% Male
60547
1
0
1
yatsenko_12_ASD/DD/ID_discovery_cases
Unrelated children with variable phenotypes found to have a gain in DNA copy number in the subtelomeric 9q34 region revealed by aCGH, FISH, or chromosome analysis performed at Baylor College of Medicine and elsewhere.
20
Phenotypes include one or more of the following: ASD, DD, ID, dysmorphic features, multiple congenital anomalies (MCA)
Range, 1 yr.-16 yrs.
60.0% Male
1897324
2
26
28
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
97182
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
1744587
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
44774
1
0
1
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
3200000
0
0
0
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
775511
0
27
27
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.
1871111
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
3250000
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
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
148999
0
2
2
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
124106
0
3
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
124106
1
5
6
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
27230
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
581373
0
3
3
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
134693
0
5
5
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)
51397
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.
562847
15
12
27
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
47364
2
2
4
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
97182
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.
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
RT-PCR, qPCR, or ddPCR
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
gabriele_17_DD/ID_discovery_cases
N/A
aCGH, array SNP
Agilent 44K, Agilent 60K, Agilent 400K, Affymetrix 250K NspI
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
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)
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
No
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rots_24_ASD/ADHD/DD/ID_discovery_cases
CMA, WES
WGS, FISH
rots_24_ASD/DD/ID_discovery_cases
The majority of patients (25/41, 61%) came from the Netherlands.
Exome sequencing
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
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
schmidt_24_ASD/DD/ID_discovery_cases
Germany
aCGH, Exome sequencing
Illumina HiSeq 2500 or NovaSeq 6000
ExomeDepth v1.1.10, ClinCNV v1.16.1
sheth_23_ASD_discovery_cases
India
CMA
Affymetrix CytoScan Optima/GeneChip 3000
NA
Thermo Fisher ChAS
qPCR, WES
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
werling_19_ASD_discovery_cases
Europe
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
None
yatsenko_12_ASD/DD/ID_discovery_cases
NA
aCGH, FISH
Custom 9q34 oligonucleotide array (Agilent)
PCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
egle_16_DD/ID_discovery_controls
N/A
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
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-case32A
11 yrs.
M
Developmental delay, intellectual disability, and epilepsy
Severe developmental delay, epilepsy, hypotonia, coarse face, open mouth.
Intellectual disability
136817240
138125937
1308698
GRCh38
Deletion
No
akkus_24_ASD/DD/ID_discovery_cases-case9A
1 yr.
F
Developmental delay/intellectual disability
Neonatal hypotonia, developmental delay/intellectual disability, hypotonia.
Developmental delay/intellectual disability
137595173
137903846
308674
GRCh38
Deletion
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case123
2.42 yrs.
M
ASD and developmental delay
Autism, speech delay, hyperactivity, communication problems, low response. Growth parameters: height 0.88 m, weight 13 kg, head circumference 50 cm. Family history: no data on familial consanguinity.
135755151
135814014
58864
GRCh38
Deletion
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case567
2.4 yrs.
M
Developmental delay and seizures
Developmental milestones: delayed speech and language development (HP:0000750), global developmental delay (HP:0001263). Behavioral/psychiatric evaluation: atypical behavior (HP:0000708). Epilepsy/seizures: seizure (HP:0001250). Dysmorphic features: abnormal facial shape (HP:0001999). Growth parameters: head circumference 42 cm, height 76 cm, weight 11 kg.
136258783
138174185
1915403
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseSSC03674
N/A
M
ASD
Case from SSC_phase1 cohort
137640068
137645006
4939
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case3-0338-000
N/A
M
ASD
Case from MSSNG cohort
136029871
137168121
1138251
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU072004
N/A
M
ASD
Case from MSSNG cohort
136511268
136615703
104436
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU2792302
N/A
M
ASD
Case from MSSNG cohort
136525422
136533563
8142
GRCh38
Deletion
No
bremer_11_ASD_discovery_cases-case33
6
M
ASD
Non-syndromic ASD, broad neuropsychiatric pehnotype familial case
IQ>70
137100965
137189534
88570
GRCh38
Duplication
Yes
chan_22_ASD_discovery_cases-case3-0338-000
NA
M
ASD and developmental delay
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: congenital oculomotor apraxia, atrial septal defect (which closed spontaneously) and small fibrous subaortic ridge (nonobstructive) noted at birth. Developmental milestones: early gross motor delay (sitting at 12 months, crawling at 14 months). Language and communication evaluation: 30 single words with meaning but poor intelligibility at 2 years 5 months. Motor and musculoskeletal evaluation: limb hypotonia. Brain imaging: normal brain MRI. Dysmorphic features: abnormal head shape (brachcephaly, frontal/parietal bossing), ocular hypertelorism, midface hypoplasia, large low-set ears, bilateral fifth finger clinodactyly.
136029955
137168148
1138194
GRCh38
Deletion
Yes
chan_22_ASD_discovery_cases-case3-0603-000
NA
M
ASD
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Behavioral/psychiatric evaluation: depression and suicide attempt at 30 years leading to ASD diagnosis (met criteria for Asperger syndrome). Additional medical history: diagnoses of chronic atrial fibrillation at 29 years and early dilated cardiomyopathy (left ventricular ejection fraction 42%) at 32 years. Dysmorphic features: narrow palpebral fissures with deep-set eyes, wide mouth, large ears, thin deep-set finger and toe nails. Growth parameters: macrocephaly (head circumference +4.5 SD), height 75th-90th %ile, weight 114 kg, body mass index 34.
135852001
137908000
2056000
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case64
N/A
M
Developmental delay and intellectual disability
Developmental delay, speech and/or language delay or impairment, intellectual disability, and facial dysmorphism
Intellectual disability
136487369
137191580
704212
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case737
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case738
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case739
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case740
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case741
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case742
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case743
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case744
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case745
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case746
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case747
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
134968333
138185727
3217395
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299974
N/A
F
Developmental delay/intellectual disability
136428708
138059695
1630988
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300522
N/A
F
Developmental delay/intellectual disability
137447506
137984409
536904
GRCh38
Deletion
Yes
egle_16_DD/ID_discovery_cases-case3_1
35 yrs.
F
Intellectual disability
Microcephaly, obesity, mandibular prognathia, synophrys, diabetes mellitus
Intellectual disability
137608978
138114463
505486
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1243_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135254963
135414214
159252
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13037_463
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135651054
135808672
157619
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13080_943
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135414214
156895
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)
136929218
137092898
163681
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)
136474501
136862025
387525
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14296_4170
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
136206329
137319791
1113463
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14299_4200
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135422409
135469324
46916
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1946_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
136490986
137321795
830810
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1948_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135254963
135414214
159252
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3204_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135414214
156895
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3320_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135406318
148999
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3495_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135429623
135469324
39702
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)
135257320
135406318
148999
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4137_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257471
135406318
148848
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4201_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135404738
147419
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4451_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135404738
147419
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5211_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135414214
156895
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5278_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135406318
148999
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5301_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135406318
148999
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6137_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135429623
135469324
39702
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6252_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135351535
94216
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6301_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135287879
135351535
63657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8472_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135257320
135344459
87140
GRCh38
Duplication
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR660
21 yrs.
M
ASD, intellectual disability and epilepsy
Clinical features: moderate-to-severe intellectual disability, ASD (autistic features), challenging behavior (aggressive behavior), depression, dysmorphic features (hypertelorism, midface hypoplasia, prognathism). Age of seizure onset: 8 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, myoclonic seizures, focal dyscognitive seizures, evolution to bilateral or convulsive seizures.
Moderate-to-severe intellectual disability
137813437
137995921
182485
GRCh38
Deletion
Yes
gabriele_17_DD/ID_discovery_cases-case256842
N/A
N/A
Intellectual disability
Small for gestational age, short stature, hypotonia, hyperactivity, feeding problems, hypermetropia, dysmorphic features
Mild intellectual disability
136347716
136578063
230348
GRCh38
Deletion
gai_11_ASD_replication_cases-AU080403
Autism
137020314
137043825
23512
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si48
11
M
Autism
ADOS score: 10. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
135915397
137230591
1315195
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si49
12
M
Autism
ADOS score: 4. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 88; Non-verbal IQ, 94.
135610916
137499421
1888506
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case2200
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2201
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2202
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2203
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2204
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2205
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2206
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2207
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2208
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2209
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2210
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2211
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2212
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2213
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2214
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2215
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2216
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2217
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2218
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2219
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2220
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2221
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2222
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2223
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2224
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2225
NA
NA
Developmental delay
NA
NA
134918333
138185727
3267395
GRCh38
Duplication
NA
girirajan_13a_ASD_discovery_cases-AU044004
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
137875727
138209729
334003
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-16008109701
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
136625572
137230591
605020
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
136659079
137029080
370002
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY27
3 yrs. 6 mos.
F
ASD, developmental delay, and intellectual disability
Motor developmental delay, absent speech
Intellectual disability
137388888
138200944
812057
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case34
7 yrs.
M
Multiple congenital anomalies (MCA)
Speech delay, syndactyly, deafess, sandal gap, high-arched palate, congenital heart defect, epiphyseal dysplasia. Karyotype: 1phqh.
134788124
134975459
187336
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000856
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137778047
137818152
40106
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000993
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
138041609
138100328
58720
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001049
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136323974
138014606
1690633
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001071
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136323974
138124532
1800559
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001078
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137778047
137862670
84624
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001219
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137484248
138179445
695198
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001934
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137598355
138091769
493415
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002029
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137514943
138121473
606531
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002336
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136323542
136565950
242409
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002432
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
135452016
137613738
2161723
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002590
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137345965
137640771
294807
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002643
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137215877
138138735
922859
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002723
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137620211
137958459
338249
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002787
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137215877
137830604
614728
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003797
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136015976
138124532
2108557
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004171
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137574369
138041809
467441
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004791
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136926575
138114463
1187889
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005090
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137743457
137836015
92559
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005318
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137640712
137892491
251780
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005325
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137484248
137696525
212278
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005414
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137092629
137375788
283160
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11356.p1
N/A
F
ASD
ASD proband from SSC quad family 11356. SRS score of 90.
Full-scale IQ (FSIQ) score of 72.
136739949
136756592
16644
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12334.p1
N/A
M
ASD
ASD proband from SSC quad family 12334. SRS score of 61.
Full-scale IQ (FSIQ) score of 84.
137231702
137233404
1703
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12647.p1
N/A
M
ASD
ASD proband from SSC quad family 12647. SRS score of 88.
Full-scale IQ (FSIQ) score of 72.
137752330
137838841
86512
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13808.p1
N/A
M
ASD
ASD proband from SSC quad family 13808. SRS score of 79.
Full-scale IQ (FSIQ) score of 40.
137564433
137565154
722
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11356.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
136739949
136761853
21905
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11501.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
137464339
137498245
33907
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12334.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
137231702
137233404
1703
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12568.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
136434036
136457584
23549
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12581.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
137790847
138233806
442960
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12885.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
135938221
135939759
1539
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13641.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
136434036
136456166
22131
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14026.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
137106688
137113496
6809
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14207.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
136387484
136409067
21584
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case1
7 yrs.
M
ASD and intellectual disability
ASD
Intellectual disability
136592315
137246836
654522
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case16
5 yrs.
F
Developmental delay
Developmental delay, mitochondrial disorder
136123509
136530888
407380
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case17
7 yrs.
M
Intellectual disability
Multiple neuromuscular problems
Intellectual disability
136976429
137275482
299054
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case30
5 yrs.
M
Developmental delay
Developmental delay, dystonia
136487369
137191580
704212
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case31
18 yrs.
M
Intellectual disability
Intellectual disability
137002728
137191580
188853
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11590.p1
NA
M
ASD
NA
NA
136186036
136214042
28007
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12581.p1
NA
F
ASD
NA
NA
137785735
138125808
340074
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown219
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
137484248
138114463
630216
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown220
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
137666340
138059695
393356
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530527
F
MCA
Microcephaly (HP:0000252)
137273000
137822999
550000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530528
M
Developmental delay
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
137473000
138394717
921718
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530946
F
Intellectual disability
Abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249).
136973000
138394717
1421718
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251553
N/A
F
MCA
Database: DECIPHER. Indication for study: Atrial septum defect, cleft palate, feeding problems in infants, hyptonia (non-myopathic), low birthweight (<3rd centile), low-set ears, microcephaly, single palmar crease.
137572364
138133487
561124
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2938
N/A
M
Dysmorphic features and MCA
Database: Signature. Indication for study: Dysmorphic Features, Tetralogy of Fallot , arr cgh 9q34.3(RP11-48C7->RP11-31M4)x1
137445300
137921026
475727
GRCh38
Deletion
Yes
o'roak_12_ASD_discovery_cases-case12581.p1
NA
F
ASD/Autism
No additional clinical info available.
Low IQ. Non verbal IQ, 34
137785937
138116813
330877
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case48
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: unbalanced translocation t9:17
136805356
138120373
1315018
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1243_4
NA
M
ASD
NA
NA
135254963
135414214
159252
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case1948_301
NA
M
ASD
NA
NA
135254963
135414214
159252
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5136_4
NA
M
Autism
Language delay, no epilepsy, no dysmorphic features
Average IQ
138753347
138762844
9498
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5211_3
NA
F
ASD
NA
NA
135257320
135414214
156895
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5405_3
NA
M
ASD
NA
NA
135257320
135404738
147419
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case6259_3
N/A
M
ASD
Autism, language delay (first words 54 mo, first phrases 60 mo), limited speech, stiff and uncoordinated walk, head circumference at 2 y 9 mo 1.8 SD, no malformations, no epilepsy, normal brain CT scan. Family history: both parents unaffected; healthy sister (DNA not available).
Severe ID
137508911
138262981
754071
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1548A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU076705; NDAR ID NDAR_INVLM604GMM)
137519915
137555650
35736
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3916A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1322301; NDAR ID NDAR_INVFJ633RLY)
137519915
137555650
35736
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0555A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU044004; NDAR ID NDAR_INVMU758BXY)
137882744
138115679
232936
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case115728L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
136964199
136987458
23260
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case124630L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
139521267
139572663
51397
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146436L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
139506274
139544947
38674
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case155571L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
139899504
139905653
6150
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47828
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
138753457
138768746
15290
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_62
11 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
137471949
137777945
305997
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case17851
NA
NA
ASD
NA
NA
139633668
139935299
301631
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case21191
NA
NA
ASD
NA
NA
139979344
140168105
188761
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case6880
NA
NA
ASD
NA
NA
137590561
139935299
2344738
Unknown
Duplication
Yes
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam10_P15
17 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: no complications of pregnancy or delivery, born at 37 weeks gestation with a birth weight of 3100 g (-0.4 SD). Developmental milestones: language/speech delay (first words at 30 months), walking at 15 months. Behavioral/psychiatric evaluation: unspecified behavioral problems. Dysmorphic features: narrow and horizontal palpebral fissures, large ears. Growth parameters: height 181.5 cm (+0.7), weight 75 kg (+0.8 SD), head circumference 58 cm (+0.5 SD). Family history: no other affected relatives.
Intellectual disability
136790956
138156128
1365173
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam1_P1
8 yrs. 3 mos.
M
ASD, ADHD, and developmental delay
Birth/neonatal history: complicated birth, asphyxia, delivery by cesarean section by gestational age 41+1 weeks with a birth weight of 3769 g (+0.4 SD). Developmental milestones: language/speech delay (very limited vocabulary, expressive speech problems), motor delay (walking at 2 years 6 months, poor fine motor skills). Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism spectrum disorder, ADHD. Brain imaging: hyperintense perivascular lesion. Dysmorphic features: telecanthus, curled lip, high palate. Growth parameters: weight 142 kg (+1.3 SD), head circumference 51 cm (-1 SD). Family history: unknown.
137047548
138179548
1132001
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam2_P2
14 yrs.
M
ASD, ADHD, and developmental delay
Birth/neonatal history: no complications of pregnancy or delivery, born at 41 weeks gestational with a birth weight of 2750 g (-2.1 SD). Developmental milestones: language/speech delay, mild fine motor delay. Motor and musculoskeletal evaluation: tics, hand tremor, fatiguability, joint hypermobility, hammer toes. Behavioral/psychiatric evaluation: autism spectrum disorder, ADHD, sleep disturbance (difficulty falling asleep). Additional medical history: tachycardia, cryptorchidism. Dysmorphic features: long face, long philtrum, bulbous nasal tip, narrow palpebral fissures. Growth parameters: height 125.6 cm (-2.2 SD), weight 23 kg (-0.6 SD). Family history: no other affected relatives.
137078501
138059741
981241
GRCh38
Duplication
Yes
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam3_P3
3 yrs.
F
Developmental delay
Birth/neonatal history: delivery by Cesarean section at 39 weeks gestation with a birth weight of 2970 g (-0.9 SD). Developmental milestones: language/speech delay (2 word vocabulary at 2 years 9 months), motor delay (walking at 18-24 months). Additional medical history: strabismus. Growth parameters: height 96 cm (+0.4 SD), weight 12.6 kg (-0.9 kg), head circumference 49 cm (0 SD). Family history: father with learning difficulties.
137120317
138036359
916043
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam4_P4
14 yrs.
F
Developmental delay, intellectual disability, epilepsy, and stereotypy
Birth/neonatal history: no complications of pregnancy/delivery, born at 40 weeks gestation with a birth weight of 3300 g (-0.4 SD). Developmental milestones: language/speech delay (first words at 4 years), motor delay (walking at 24 months). Behavioral/psychiatric evaluation: stereotypies. Epilepsy/seizures: tonic seizures since 5 years of age. Brain imaging: polymicrogyria in the left cortical region. Additional medical history: astigmatism. Dysmorphic features: long face, large ears, long and flat philtrum. Growth parameters: height 119.5 cm (-1.5 SD), weight 22 kg (-1 SD), head circumference 50.5 cm (-1.5 SD). Family history: father with epilepsy and borderline-mild intellectual disability.
Mild intellectual disability (IQ 68).
137338927
137862373
523447
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam5_P5
12 yrs.
M
ASD, developmental delay, and learning disability
Birth/neonatal history: no complications of pregnancy/delivery, born at 40 weeks gestation with a birth weight of 3500 g (+0.1 SD). Developmental milestones: languge/speech delay (speech apraxia, first words after 3 years of age). Behavioral/psychiatric evaluation: autism spectrum disorder, aggressive behavior, irritability. Additional medical history: constipation. Dysmorphic features: epicanthus, full cheeks, cupid bow, retrognathia. Growth parameters: height 107 cm (0 SD), weight 17.7 kg (0 SD), head circumference 54.3 cm (+2 SD). Family history: affected mother (patient 6 in this report).
Learning disability.
137433211
137862373
429163
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam5_P6
36 yrs.
F
Intellectual disability
Birth/neonatal history: not available. Developmental milestones: unknown. Additional medical history: meteorism, lactose intolerance, recurrent cystitis. Dysmorphic features: mild unspecified dysmorphic features. Growth parameters: normal height and weight. Family history: affected son (patient 5 in this report).
Borderline intellectual disability
137383072
137868200
485129
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam6_P7
27 yrs.
F
ADHD, developmental delay, learning disability, and autistic features
Birth/neonatal history: no complications of pregnancy or delivery, born at 38 weeks gestation with a birth weight of 3330 g (+1.6 SD), mild neonatal feeding difficulties. Developmental milestones: language/speech delay (first words at 13 months), mild motor delay (walking at 14 months). Motor and musculoskeletal evaluation: long, slender, and tapering fingers, congenital hip dysplasia with casts for 14 months. Behavioral/psychiatric evaluation: autistic features, ADHD, frustration/aggression, sleep disturbance (difficulty falling asleep), social anxiety, depression, sensitivity to loud noises and voices. Additional medical history: mild myopia, strabismus, recurrent ear infections, mild gastroesophageal reflux, striae on thighs and axillary region. Dysmorphic features: mild unspecified dysmorphic features. Growth parameters: height 164 cm (0 SD), weight 88 kg (increased BMI, obesity from 15 years of age), head circumference 57 cm (+1 SD). Family history: unaffected brother (patient 8 in this report) and affected father (patient 9 in this report).
Learning disability with a variable IQ profile (total score 7th %ile, perceptual organization index 18th %ile, processing speech index 32nd %ile).
137558168
137882053
323886
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam6_P8
31 yrs.
M
Birth/neonatal history: no complications of pregnancy or delivery, born at 38 weeks gestation with a birth weight of 3920 g (+1.8 SD). Developmental milestones: normal (first words and walking at 13 months). Behavioral/psychiatric evaluation: normal. Dysmorphic features: none. Growth parameters: height 183 cm (+1 SD), weight 103 kg (increased BMI), head circumference 61 cm (+1.9 SD). Family history: affected sister (patient 7 in this report) and affected father (patient 9 in this report).
137558168
137882053
323886
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam6_P9
61 yrs.
M
Developmental delay
Birth/neonatal history: no complications of pregnancy or delivery (no information on gestational age or birth weight). Developmental milestones: language/speech delay. Additional medical history: recurrent ear infections. Dysmorphic features: none. Growth parameters: height 178 cm (+0.1 SD), weight and head circumference not available. Family history: affected daughter (patient 7 in this report) and unaffected son (patient 8 in this report).
137558168
137882053
323886
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam7_P10
4 yrs.
M
ADHD, developmental delay, intellectual disability, and autistic features
Birth/neonatal history: born after 34+4 weeks of gestation, respiratory distress (birth weight not available). Developmental milestones: mild language/speech delay, slightly delayed fine motor development, not toilet trained. Behavioral/psychiatric evaluation: autistic features (likes structures), aggressive behavior, ADHD, sleep disturbance (sleeps a lot, has trouble waking up). Additional medical history: cryptorchidism (one testicle). Dysmorphic features: several 'crowns' on his head, small palpebral fissures, mildly deep set eyes, short nose, thin upper lip vermillion, chubby cheeks, slightly elongated face. Growth parameters: height -0.2 SD, weight +1 SD. Family history: no other affected relatives.
Mild intellectual disability (IQ 69).
137477782
138010876
533095
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam8_P11
7 yrs.
M
ASD, developmental delay, intellectual disability, and epilepsy
Birth/neonatal history: no complications of pregnancy or delivery, born at 40 weeks gestation (birth weight not available). Developmental milestones: language/speech delay (first words after 24 months), motor delay (walking at 30 months). Motor and musculoskeletal evaluation: hypotonia, ataxia, tremor, clinodactyly, pes planovalgus. Behavioral/psychiatric evaluation: autism spectrum disorder, anxiety, anger, suspected ADHD, sleep disturbance (difficulty falling asleep). Epilepsy/seizures: two episodes of status epilepticus. Additional medical history: abnormality of refraction, strabismus, subclinical hypothyroidism. Dysmorphic features: mild unspecified dysmorphic features. Growth parameters: height 112 cm (-0.7 SD), weight 18.5 kg (-0.7 SD), head circumference 53 cm (+0.75 SD). Family history: affected sister (patient 12 in this report) and affected father (patient 13 in this report).
Mild intellectual disability.
137457372
137878029
420658
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam8_P12
8 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: not available. Developmental milestones: language/speech delay, walking at 12 months. Motor and musucloskeletal evaluation: motoric apraxia (with hands), spasticity, fatiguability. Behavioral/psychiatric evaluation: unspecified behavioral problems. Additional medical history: constipation, subclinical hypothyroidism. Dysmorphic features: arched eyebrows, broad helix, low implanted ears). Growth parameters: height 0 SD, weight +1.8 SD, head circumference +0.5 SD. Family history: affected brother (patient 11 in this report) and affected father (patient 13 in this report).
Learning problems, intellectual disability (IQ 72).
137457372
137878029
420658
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam8_P13
36 yrs.
M
Learning problems
Birth/neonatal history: not available. Developmental milestones: not available. Epilepsy/seizures: one episode of epileptic seizure at 2 years of age. Dysmorphic features: none. Growth parameters: not available. Family history: affected son (patient 11 in this report) and affected daughter (patient 12 in this report).
Learning problems, intellectual disability (IQ 72).
137457372
137878029
420658
GRCh38
Duplication
No
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam9_P14
13 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: no complications of pregnancy or delivery, born at 38 weeks gestation with a birth weight of 2620 g (-1.5 SD). Developmental milestones: language/speech delay (first words at 26-36 months), motor delay (walking at 36 months). Motor and musculoskeletal evaluation: scoliosis, club feet. Behavioral/psychiatric evaluation: autism spectrum disorder. Additional medical history: noctural enuresis. Dysmorphic features: long face, cowlick, prominent forehead, anteverted nares, overfolded helix. Growth parameters: height 161 cm (+0.6 SD), weight 38.6 kg (decreased BMI), head circumference 53.7 cm (-1 SD). Family history: no other affected relatives.
Borderline intellectual disability [IQ profile: Locomotor (A): 79; Personal-Social (B): 86; Hearing and Language (C): 86; Eye-End Co-ordination (D): 79; Performance (E): 68; Practical reasoning (F): 72].
137604238
138131469
527232
GRCh38
Duplication
Yes
rots_24_ASD/DD/ID_discovery_cases-caseKS110007
25 yrs.
F
ASD, bipolar disorder, and intellectual disability
Birth/neonatal history: small for gestational age (0th %ile). Developmental milestones: developmental regression. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, restlessness, psychosis, bipolar disorder, sleep disturbance (sleep onset insomnia, frequent wakings). Additional medical history: hearing impairment, glaucoma, subclinical hypothyroidism, psoriasis. Growth parameters: microcephaly (-2.56 SD).
Mild intellectual disability (total IQ 65)
136817307
138133487
1316181
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110008
27 yrs.
F
ASD, developmental delay, and intellectual disability
Birth/neonatal history: premature birth (32-36 weeks gestation). Developmental milestones: global developmental delay, developmental regression. Motor and musculoskeletal evaluation: pes planus. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, anxiety, hallucinations. Additional medical history: constipation, hearing impairment, visual impairment. Growth parameters: short stature (height 0.1st %ile), overweight (BMI 96.6th %ile, +1.83 SD), microcephaly (1st %ile, -5.96 SD).
Mild intellectual disability
137505548
138105548
600001
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110009
18 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: small for gestational age (birth weight 9th %ile). Developmental milestones: global developmental delay, speech delay (first words at 48 months). Motor and musculoskeletal evaluation: pes planovalgus, hypermobility, scoliosis. Behavioral/psychiatric evaluation: tics, stereotypies, autism spectrum disorder. Additional medical history: cardiac anomalies (valve insufficiency, ventricular tachycardia), congenital kidney/urinary anomalies (hypospadias, inguinal hernia), recurrent infections, constipation, hearing impairment, abnormality of refraction, subclinical hypothyroidism. Growth parameters: microcephaly (2nd %ile, -2.02 SD. Note: this patient died in early adulthood.
Mild intellectual disability (total IQ 53
137507220
138125938
618719
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110011
8 yrs.
M
ASD, developmental delay, intellectual disability, and seizures
Birth/neonatal history: delivery by C-section, neonatal feeding difficulties. Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: hypotonia, multiple bone fractures. Behavioral/psychiatric evaluation: sensory hypersensitivity, biting, stereotypies, autism spectrum disorder, sleep disturbance (early waking). Epilepsy/seizures: epilepsy. Additional medical history: atrioventricular septal defect, recurrent infections, gastroesophageal reflux, constipation, autonomic dysfunction, sleep apnea. Growth parameters: short stature (height 1.8th %ile, -2.1 SD).
Mild intellectual disability
135204722
141213431
6008710
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110015
29 yrs.
F
ASD, developmental delay, intellectual disability, and epilepsy
Birth/neonatal history: postterm pregnancy (>42 weeks gestation), neonatal feeding dfficulties, neonatal hypotonia. Developmental milestones: global developmental delay, developmental regression. Motor and musculoskeletal evaluation: pes planus, scoliosis, dystonia. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, aggressive behavior, bipolar disorder, impulsivity, sleep disturbance (sleep onset insomnia, frequent wakings). Epilepsy/seizures: epilepsy. Additional medical history: atrial septal defect, gastroesophageal reflux, constipation, pulmonary disease (frequent dyspnea, aspirations).
Mild intellectual disability
137059436
137902321
842886
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110020
12 yrs.
M
Developmental delay, intellectual disability, and seizures
Birth/neonatal history: delivery by C-section, neonatal hypotonia. Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: pes valgus, scoliosis. Epilepsy/seizures: tonic-clonic seizures, focal seizures, atonic seizures. Brain imaging: mild frontal hypoplasia. Additional medical history: cardiac arrhythmias, recurrent infections, hearing impairment, astigmatism, myopia, hypothyroidism, hypoplastic scrotum.
Mild intellectual disability
137640986
138143864
502879
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110024
21 yrs.
M
ASD, developmental delay, and intellectual disability
Developmental milestones: global developmental delay. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, depression, psychotic disorder. Growth parameters: short stature (height 1.6th %ile, -2.14 SD). Note: this patient died in early adulthood.
Mild intellectual disability
135008333
138199729
3191397
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110025
28 yrs.
F
ASD, developmental delay, intellectual disability, and epilepsy
Birth/neonatal history: neonatal feeding difficulties. Developmental milestones: global developmental delay, developmental regression. Speech and language evaluation: absent speech. Motor and musculoskeletal evaluation: bilateral postaxial polydactyly of both hands, postaxial polydactyly in one foot, bilateral hallux valgus. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, ruminating, self-mutilation, sleep disturbance. Epilepsy/seizures: epilepsy. Additional medcial history: recurrent infections, gastroesophageal reflux, constipation, hearing impairment, unspecified vision/eye problems, unspecified ectodermal anomalies. Growth parameters: microcephaly (1st %ile, -4.07 SD).
Mild intellectual disability
137614558
138394717
780160
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110027
12 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: delivery by C-section. Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: Poland syndrome, hypermobility, decreased strength, pes planovalgus, scoliosis. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, sensory hypersensitivity, sleep disturbance (sleep onset insomnia). Additional medical history: open foramen ovale, recurrent infections, hearing impairment, astigmatism, myopia.
Mild intellectual disability (total IQ 68)
137599275
137764604
165330
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110030
24 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: delivery by C-section. Developmental milestones: global developmental delay. Speech and language evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, anxiety, sensory hypersensitivity, hyperactive behavior, sleep disturbance (sleep onset insomnia). Additional medical history: cardiac anomalies (tetralogy of Fallot, ventricular septal defect, open foramen ovale, bicuspid pulmonary valve), recurrent infections, gastroesophageal reflux, constipation, pulmonary disease (recurrent pneumonia, dyspnea), incontinence. Growth parameters: short stature (height 2nd %ile, -2.06 SD)
Mild intellectual disability
136032451
138125938
2093488
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110039
14 yrs.
F
ASD, developmental delay, and intellectual disability
Birth/neonatal history: large for gestational age (birth weight 97th %ile), neonatal feeding difficulties. Developmental milestones: global developmental delay, speech delay (first words at 30 months). Motor and musculoskeletal evaluation: pes planus. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, anxiety, aggressive behavior, self-mutilation, sensory hypersensitivity, impulsivity. Additional medical history: recurrent infections, constipation, astigmatism, strabismus, hypermetropia, inflammatory bowel disease. Growth parameters: overweight (BMI 25.1, 87.2nd %ile, +1.14 SD).
Severe intellectual disability
137508905
137701735
192831
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110042
2 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: neonatal hypotonia. Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: hypotonia. Additional medical history: recurrent infections, constipation, hypermetropia. Growth parameters: tall stature (height 99th %ile, +2.32 SD).
Mild intellectual disability (total IQ 60)
137620294
137760461
140168
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110044
9 yrs.
M
ASD, developmental delay, and intellectual disability/learning difficulties
Birth/neonatal history: small for gestational age (birth weight 7th %ile). Developmental milestones: global developmental delay, speech delay (first words at 24 months). Motor and musculoskeletal evaluation: pes equinavarus, pes planovalgus, hypotonia. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, mood swinds, tics). Additional medical history: strabismus, hypothyroidism, incontinence.
Intellectual disability/learning difficulties
137782789
138068654
285866
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110047
13 yrs.
M
ASD, developmental delay, and intellectual disability/learning difficulties
Developmental milestones: global developmental delay, speech delay (first words at 36 months). Motor and musculoskeletal evaluation: pes planus. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, aggressive behavior, anxiety, impulsivity. Brain imaging: abnormal. Additional medical history: recurrent infections, pes planus, abnormality of refraction, drooling. Growth parameters: tall stature (height 99.8th %ile, +2.94 SD), overweight/obesity (BMI 27.32; 97th %ile, +1.89 SD). Note: this deletion was inherited from a parent who was moasic for the variant.
Intellectual disability/learning difficulties
137743371
137798914
55544
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110048
8 yrs.
F
ASD, developmental delay, and intellectual disability/learning difficulties
Birth/neonatal history: neonatal feeding difficulties, neonatal hypotonia. Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: pes planus, ataxia, impaired balance, joint hyperlaxity. Behavioral/psychiatric evaluation: restlessness, self-mutilation, tics, autism spectrum disorder. Additional medical history: recurrent urinary tract infections, recurrent infections, constipation, vision/eye issues (concentrically limited visual field, slow accommodation movements, hypermetropia). Note: this deletion was inherited from a parent with a balanced translocation.
Intellectual disability/learning difficulties
135203306
138100471
2897166
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110051
2 yrs.
M
Developmental delay, intellectual disability/learning difficulties, and epilepsy
Birth/neonatal history: premature birth (32-36 weekes gestation), neonatal feeding difficulties (tube feeding). Developmental milestones: global developmental delay. Growth parameters: short stature (height 2.2nd %ile, -2.01 SD), overweight (BMI 93.5th %ile, +1.52 SD), microcephaly (1st %ile, -3.35 SD). Behavioral/psychiatric evaluation: anxiety. Epilepsy/seizures: epilepsy. Brain imaging: asymmetry of the skull, decreased volume of the white matter, multiple ischemic microlesions, prominent liquor system in the right frontal region, small pons, diffusely underdeveloped brainstem, enlarged cerebellum, corpus callosum hypoplasia. Additional medical history: cardiac anomalies (large ventricular septal defect, patent ductus arteriosus, slender aortic arch, abnormal mitral valve with stenosis, right ventricular hypertrophy), renal anomalies (bilateral hydronephrosis, cyst in the left kidney, smaller right kidney), recurrent infections, gastroesophageal reflux, constipation, bilateral hearing impairment, ptosis, hypermetropia, pulmonary disease (tracheomalacia. pulmonary hypertension).
Intellectual disability/learning difficulties
135791488
138262981
2471494
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110055
4 yrs.
F
ASD, developmental delay, and intellectual disability
Birth/neonatal history: premature birth (32-36 weeks gestation), neonatal hypotonia, neonatal feeding difficulties. Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: hypotonia, joint hyperlaxity. Behavioral/psychiatric evaluation: autism/autism spectrum disorder. Additional medical history: atrial septal defect type II, recurrent infections, gastroesophageal reflux, constipation, hypermetropia, astigmatism, pulmonary disease (tracheomalacia, recurrent pneumonia. atelectasis of the right upper lobe), sleep disturbance (sleep apnea), enlarged tonsils. Growth parameters: microcephaly (1st %ile, -3.48 SD)
Severe intellectual disability
136684941
138124673
1439733
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110056
2 yrs.
M
Developmental delay and intellectual disability
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: hypotonia. Additional medical history: ventricular septal defect, constipation. Growth parameters: obesity (BMI 99.8th %ile, +2.95 SD), microcephaly.
Severe intellectual disability
137361253
138125937
764685
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110058
8 yrs.
F
ASD, developmental delay, and intellectual disability/learning difficulties
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: pes planus, hypotonia, joint hyperlaxity, hallux valgus, scoliosis. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, anxiety. Additional medical history: recurrent urinary tract infections, recurrent infections, constipation, hypermetropia, incontinence. Growth parameters: obesity (BMI 98.2nd %ile, +2.09 SD).
Intellectual disability/learning difficulties
137375729
137696525
320797
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110060
44 yrs.
F
ASD, developmental delay, intellectual disability, and seizures
Developmental milestones: moderate global developmental delay, developmental regression. Motor and musculoskeletal evaluation: hypotonia, thoracic kyphosis, hypertonia, scoliosis. Behavioral/psychiatric evaluation: aggressive behavior, psychotic disorder, autism/autism spectrum disorder, stereotypies, self-mutilation, depression, impulsivity, sleep disturbance. Epilepsy/seizures; generalized seizures. Additional medical history: cardiac anomalies (small perimembranous ventricular septal defect, sinus tachycardia), inguinal hernia, recurrent urinary tract infections, recurrent infections, gastroesophageal reflux, constipation, dry skin.
Severe intellectual disability
137574569
138212068
637500
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110063
23 yrs.
F
ASD, developmental delay, intellectual disability/learning difficulties, and epilepsy
Birth/neonatal history: neonatal feeding difficulties. Developmental milestones: global developmental delay, developmental regression. Motor and musculoskeletal evaluation: short hands and fingers, pes planus, hypotonia, short achilles tendon, scoliosis. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, stereotypies, tantrums. Epilepsy/seizures: epilepsy with recurrent febrile seizures. Additional medical history: gastroesophageal reflux, hypermetropia, strabismus, sheer/thin skin, constitutional eczema. Growth parameters: microcephaly (1st %ile, -4.06 SD).
Intellectual disability/learning difficulties
137762674
137790970
28297
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110064
53 yrs.
F
ASD, developmental delay, intellectual disability, and seizures
Developmental milestones: global developmental delay, developmental regression. Behavioral/psychiatric evaluation: aggressive behavior, impulsivity, destructive behavior, obsessive behavior, autism/autism spectrum disorder, apathy, stereotypies, diminished motivation. Epilepsy/seizures: tonic-clonic seizures, absence seizures. Additional medical history: atrial fibrillation, recurrent urinary tract infections, recurrent infections, constipation, hypermetropia, respiratory insufficiency, hypothyroidism, autonomic dysregulation.
Severe intellectual disability
137574569
138212068
637500
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110067
19 yrs.
F
Developmental delay, intellectual disability/learning difficulties, and epilepsy
Birth/neonatal history: postterm pregnancy (>42 weeks pregnancy), delivery by C-section, neonatal feeding difficulties. Developmental milestones: global developmental delay. Speech and language evaluation: absent speech. Motor and musculoskeletal evaluation: reduced lordosis. Behavioral/psychiatric evaluation: aggressive behavior, depression, impulsivity, sleep disturbance. Epilepsy/seizures: epilepsy. Additional medical history: unspecified congenital kidney/urinary anomalies, recurrent infections, constipation, auto-immune thyroiditis (anti-TPO), incontinence.
Intellectual disability/learning difficulties
137522728
137619049
96322
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110069
27 yrs.
F
ASD, developmental delay, intellectual disability, and epilepsy
Developmental milestones: global developmental delay. Motor and musucloskeletal evaluation: pes planus, scoliosis. Behavioral/psychiatric evaluation: mood swings, echolalia, diminished motivation, acoustic hallucinations, anxiety, autism spectrum disorder, sleep disturbance. Epilepsy/seizures: epilepsy. Brain imaging: vermis hypoplasia, abnormality in the fourth ventricle. Additional medical history: recurrent infections, constipation, bilateral hearing impairment, right amblyopia. Growth parameters: short stature (height 2.9th %ile, -1.9 SD), overweight.
Moderate intellectual disability (total IQ 47)
137800882
137811462
10581
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110071
14 yrs.
F
ASD, developmental delay, intellectual disability/learning difficulties, and seizures
Biirth/neonatal history: neonatal feeding difficulties. Developmental milestones: global developmental delay. Speech and language evaluation: absent speech. Motor and musculoskeletal evaluation: bilateral pes equinovarus, hypotonia, short achilles tendon, ataxia, scoliosis. Behavioral/psychiatric evaluation: apathy, aggressive behavior, echolalia, problems with concentration, autism spectrum disorder, impulsivity, sleep disturbance (motor restlessness). Epilepsy/seizures: nocturnal seizures, focal seizures. Additional medical history: cardiac anomalies (atrial septal defect type II, pulmonary stenosis, paroxysmal heart palpitations), gastroesophageal reflux, constipation, , abnormal brain imaging (bilateral leukomalacia), strabismus, hypermetropia, folic acid deficiency. Growth parameters: microcephaly (1st %ile, -2.43 SD).
Intellectual disability/learning difficulties
137170000
138360000
1190001
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110072
21 yrs.
F
ASD, developmental delay, and intellectual disability
Birth/neonatal histotry: delivery by C-section. Developmental milestones: global developmental delay, speech delay (first words at 30 months). Motor and musculoskeletal evaluation: pes planovalgus, scoliosis. Behavioral/psychiatric evaluation: apathy, aggressive behavior, hallucinations, anxiety, psychosis, autism/autism spectrum disorder, impulsivity, sleep disturbance (sleep onset insomnia, insomnia). Additional medical history: mild peripheral pulmonary stenosis, constipation, pulmonary disease (lung emphysema), hypopigmentation on the leg. Growth parameters: overweight (84.1st %ile, +1 SD).
Severe intellectual disability
137778047
138231664
453618
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110073
17 yrs.
F
ASD, developmental delay, and intellectual disability
Birth/neonatal history: neonatal feeding difficulties (tube feeding). Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: deformation of the thorax with a smaller left thorax cavity, pes planovalgus, right shoulder deviation, hyperextension of the knees, hypotonia, flexion contractures of the elbows and ankle, hypermobility of the knee, talipes, scoliosis. Behavioral/psychiatric evaluation: diminished motivation, sensory hypersensitivity, autism spectrum disorder, sleep disturbance (insomnia). Additional medical history: atrial septal defect, ventricular septal defect, renal anomalies (reflux in the left kidney resulting in dilation of the collecting system on the left), constipation, vision/eye issues (lack of depth perception, astigmatism, myopia, hypermetropia), hypothyroidism. Growth parameters: overweight (BMI 92.9th %ile, +1.47 SD).
Moderate intellectual disability
136993278
138200863
1207586
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110079
22 yrs.
F
ASD, developmental delay, and intellectual disability/learning difficulties
Developmental milestones: global developmental delay. Behavioral/psychiatric evaluation: aggressive behavior, self-mutilation, destructive behavior, anxiety, sensory hypersensitivity, autism spectrum disorder, impulsivity. Additional medical history: gastroesophageal reflux, constipation, hypermetropia, astigmatism, strabismus. Growth parameters: overweight (BMI 91.1st %ile, +1.35 SD).
Intellectual disability (HP:0001249).
137456472
138100471
644000
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110083
2 yrs.
F
Developmental delay and intellectual disability/learning difficulties
Birth/neonatal history: neonatal feeding difficulties, neonatal hypotonia. Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: reduced lordosis, bilateral pes planovalgus, hypotonia, hypermobility. Additional medical history: atrial septal defect type II, renal anomalies (dilatation of the left collection system), recurrent infections, constipation, unilateral hearing impairment. Growth parameters: overweight (BMI 92.4th %ile, +1.43 SD).
Intellectual disability/learning difficulties
137615623
137984254
368632
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110088
28 yrs.
F
ASD and developmental delay
Developmental milestones: global developmental delay. Behavioral/psychiatric evaluation: difficulties with social interaction, problems with concentration, autism spectrum disorder. Additional medical history: myopia, asthma. Family history: two affected sons who inherited the EHMT1 deletion from this individual.
137797535
137820858
23324
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110089
1.33 yrs.
M
Developmental delay, intellectual disability, and epilepsy
Birth/neonatal history: neonatal feeding difficulties (tube feeding). Developmental milestones: global developmental delay. Epilepsy/seizures: epilepsy. Additional medical history: inguinal hernia, recurrent infections, gastroesophageal reflux, umbilical hernia, recurrent bronchioltis, hypothyroidism, cow milk allergy. Family history: affected mother and affected brother who both have the same EHMT1 deletion.
Mild intellectual disability
137797535
137820858
23324
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110090
4 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: delivery by C-section, neonatal feeding difficulties (tube feeding). Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: hypermobility. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, impulsivity, difficulties with social interaction, self-mutilation, anxiety, sensory hypersensitivity, stereotypies, behavioral rigidity, sleep disturbance (sleep onset insomnia, frequent wakings, early waking). Additional medical history: recurrent infections, gastroesophageal reflux, constipation, cleft lip/palate, hyperpigmented macules. Growth parameters: microcephaly (1st %ile, -3.44 SD).
Severe intellectual disability
137834653
137837236
2584
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110091
3.58 yrs.
F
ASD, developmental delay, and intellectual disability/learning difficulties
Birth/neonatal history: large for gestational age (birth weight 97th %ile), delivery by C-section, neonatal hypotonia. Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: pes planus, hypotonia. Behavioral/psychiatric evaluation: impulsivity, difficulties with social interaction, problems with concentration, autism spectrum disorder.
Intellectual disability/learning difficulties
135338745
138124196
2785452
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110100
28.33 yrs.
F
ASD, developmental delay, and intellectual disability/learning difficulties
Birth/neonatal history: neonatal feeding difficulties (tube feeding), neonatal hypotonia. Developmental milestones: global developmental delay, developmental regression. Motor and musculoskeletal evaluation: bilateral pes equinovarus, scoliosis. Behavioral/psychiatric evaluation: anxiety, tics, depression, apathy, autism spectrum disorder, sleep disturbance (motor restlessness). Additional medical history: constipation, bilateral hearing impairment, hypermetropia, pulmonary disease (brachypnoe). Growth parameters: microcephaly (1st %ile, -3.59 SD).
Intellectual disability/learning difficulties
137505613
138394717
889105
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110103
40 yrs.
M
ASD, developmental delay, intellectual disability, and seizures
Birth/neonatal history: neonatal feeding difficulties, neonatal hypotonia. Developmental milestones: global developmental delay, developmental regression. Motor and musculoskeletal evaluation: kyphosis. Behavioral/psychiatric evaluation:apathy, abnormal sexual behavior, diminished motivation, autism spectrum disorder, sleep disturbance (frequent wakings). Epilepsy/seizures: absence seizures. Additional medical history: recurrent infections. Growth parameters: microcephaly.
Severe intellectual disability
137467316
137778055
310740
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseKS13003
19 yrs.
F
ASD, OCD, developmental delay, intellectual disability, and epilepsy
Developmental milestones: moderate global developmental delay. Motor and musculoskeletal evaluation: scoliosis. Behavioral/psychiatric evaluation: obsessive-compulsive disorder, aggressive behavior, impulsivity, difficulties with social interaction, psychosis, autism spectrum disorder, sleep disturbance. Epilepsy/seizures: epilepsy. Additional medical history: constipation, hypermetropia. Growth parameters: microcephaly (2nd %ile, -2.17 SD).
Moderate intellectual disability
137574569
138112014
537446
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseVUS-Diagnostic110004
3.25 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: postterm pregnancy (>42 weeks gestation), large for gestational age, neonatal feeding difficulties (neonatal tube feeding), pulmonary disease (neonatal saturation drops). Developmental milestones: global developmental delay. Behavioral/psychiatric evaluation: autism/autism spectrum disorder, sleep disturbance (sleep onset insomnia). Additional medical history: recurrent infections, gastroesophageal reflux, constipation, hearing impairment, visual/eye problems (astigmatism, strabismus, hypermetropia). Growth parameters: microcephaly (-2.53 SD)
Mild intellectual disability
137106653
138394717
1288065
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseVUS-Diagnostic110006
Newborn
M
MCA
Birth/neonatal history: premature birth (<32 weeks gestation), small for gestational age (0th %ile), delivery by C-section. Additional medical history: cardiac anomalies (atrial septal defect type II, coronary fistula, small patent ductus arteriosus, small ventricular septal defect), congenital kidney/urinal anomalies (bilateral hydronephrosis, thickened bladder wall, undescended testes).
134642187
138121999
3479813
GRCh38
Deletion
No
rots_24_ASD/DD/ID_discovery_cases-caseVUS-Diagnostic110066
4.75 yrs.
F
Intellectual disability/learning difficulties
Motor and musculoskeletal evaluation: hypotonia, unstable gait. Brain imaging: arachnoid cyst. Additional medical history: atrial septal defect, recurrent infections, high hypermetropia, tracheomalacia.
Intellectual disability/learning difficulties
137810632
137825064
14433
GRCh38
Duplication
No
rots_24_ASD/DD/ID_discovery_cases-caseVUSM110048
14 yrs.
M
Hypotonia and VSD
Birth/neonatal history: large for gestational age (birth weight 98th %ile). Motor and musculoskeletal evaluation: hypotonia, rigidity. Behavioral/psychiatric evaluation: shyness, temper tantrums. Additional medical history: ventricular septal defect, recurrent infections, abnormality of refraction. Growth parameters: overweight (BMI 84.1st %ile, +1 SD).
137710966
137818141
107176
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1083-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
135429623
135469324
39702
GRCh38
Duplication
No
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.
138131866
138214775
82910
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: no. Intellectual disability: no.
137144788
137406995
262208
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
137200153
137318190
118038
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
136605258
136727572
122315
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
137200153
137318190
118038
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
136658009
136723384
65376
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-181
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: autistic features. Seizures: yes (onset at 4 yrs).
Developmental delay: yes. Intellectual disability: N/A.
137223996
138142193
918198
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-093
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
135429623
135463564
33942
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-368
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
135257320
135406318
148999
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11225.p1
11.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
137422367
137425720
3354
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
136773991
136780075
6085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
136773991
136780075
6085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
136739074
136762254
23181
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11372.p1
5.7
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
137036493
137063253
26761
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11401.p1
7.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 93
136773991
136780075
6085
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
136598337
136624513
26177
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
136592640
136623715
31076
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
136583069
136606873
23805
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11501.p1
11.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
137465547
137494996
29450
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11565.p1
10.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
136773991
136780075
6085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
136195675
136213383
17709
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11620.p1
16.5
M
ASD
NA
Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
136583069
136624513
41445
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
136583069
136624513
41445
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
137194122
137229750
35629
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
136598337
136627649
29313
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11835.p1
6.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
136773991
136780075
6085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
136598337
136606873
8537
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11935.p1
5.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
136840900
136862025
21126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11935.p1
5.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
137099650
137141280
41631
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11977.p1
10.2
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
136975894
136978985
3092
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
136598337
136623715
25379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
136972675
137020989
48315
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
137429663
137439407
9745
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
137197680
137232292
34613
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
137425720
137439407
13688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
137197680
137241842
44163
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12048.p1
7.2
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
136583069
136627649
44581
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12048.p1
7.2
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
138142193
138214775
72583
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12101.p1
5.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
136583069
136606873
23805
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
136917539
136929218
11680
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12160.p1
8.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 108; verbal IQ, 86
135257320
135406318
148999
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12201.p1
13.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
137293125
137294639
1515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12255.p1
4.1
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
134810027
134810219
193
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12568.p1
14.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
136434099
136453326
19228
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
137785621
138177742
392122
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12621.p1
5.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 96
135257320
135401795
144476
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
136953029
136979510
26482
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
136981782
137017531
35750
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
136583069
136627649
44581
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12717.p1
11.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 86
136566399
136624513
58115
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12741.p1
7.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 87; verbal IQ, 60
134577158
134584747
7590
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
135257320
135406318
148999
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12821.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 86
135257320
135401795
144476
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12937.p1
17.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
135257320
135406318
148999
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case105
4 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
137269969
138124532
854564
GRCh38
Deletion
No
schmidt_24_ASD/DD/ID_discovery_cases-case1133
Child
M
Developmental delay
Global developmental delay (HP:0001263), cryptorchidism (HP:0000028), posteriorly rotated ears (HP:0000358), epicanthus (HP:0000286), downslanted palpebral fissures (HP:0000494), prominent nasal bridge (HP:0000426), delayed speech and language development (HP:0000750).
137716626
137834953
118328
GRCh38
Duplication
No
sheth_23_ASD_discovery_cases-caseASD-103
2 yrs.
M
ASD, developmental delay, and intellectual disability
Case diagnosed with ASD based on DSM-5 criteria (moderate severity classification for both social communication and restrictive and repetitive behavior). Additional clinical information: microcephaly (head circumference 44.5 cm, <3rd %ile), developmental delay, speech delay, abnormal gait, repetitive movements, self-injurious behavior, echolalia, flat and broad nasal bridge, sparse hair, hypotonia, drooling, possible lactose intolerance.
Intellectual disability
137443689
137638926
195238
GRCh38
Deletion
Yes
soueid_16_ASD_discovery_cases-caseBAK42
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
137718026
137788429
70404
GRCh38
Deletion
No
tammimies_15_ASD_discovery_cases-case3-0338-000
N/A
M
ASD
Oculomotor apraxia, atrial septal defect, small fibrous subaortic ridge. Dysmorphic features: frontal/parietal bossing, brachycephaly, ocular hypertelorism, midface hypoplasia, large ears, low-set ears, bilateral 5th finger clinodactyly.
136032177
137034983
1002807
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case71
F
DD/ID
Micrognathia, arched palate, hypermetropia, severe speech delay, heart defects
134995814
138131469
3135656
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case73
M
DD/ID
Epicanthal folds, eyelid ptosis, arched upper lip, strabismus, growth delay, deafness, heart defects, joint laxity
136502697
136528057
25361
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case73
M
DD/ID
Epicanthal folds, eyelid ptosis, arched upper lip, strabismus, growth delay, deafness, heart defects, joint laxity
137519161
138231664
712504
GRCh38
Deletion
No
werling_19_ASD_discovery_cases-caseA071
7 yrs.
M
ASD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.5); diagnosis confirmed using either ADOS or ADI-R (ADOS score 8; ADI-R A/B/C/D scores 4/5/2/3)
IQ score 98 (SON-R)
137464351
137524897
60547
GRCh38
Deletion
No
yatsenko_12_ASD/DD/ID_discovery_cases-caseP20
10 yrs.
M
ASD
Asperger syndrome. Duplication inserted in Xq28 locus. Karyotype: der(X)ins(X;9). Family history: healthy mother.
138042563
138117112
74550
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP25
11 yrs.
M
Developmental delay
Speech delay, aggressive behavior. Karyotype: XYY.
137682266
137958069
275804
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP33
6 yrs.
M
Intellectual disability
Speech delay. Family history: mother with speech delay and learning disability
Mild ID
137681538
137958362
276825
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP46
7 yrs.
F
Intellectual disability
Speech delay, congenital cataract, brain tumor. Family history: mother with speech delay and nonsyndromic ID.
ID
136887096
137799700
912605
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP47
11 yrs.
M
ASD
ASD, speech delay
Learning disability
137548275
137568587
20313
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP47
11 yrs.
M
ASD
ASD, speech delay
Learning disability
137891159
138138735
247577
GRCh38
Triplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP47
11 yrs.
M
ASD
ASD, speech delay
Learning disability
137568856
137882504
313649
GRCh38
Triplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP47
11 yrs.
M
ASD
ASD, speech delay
Learning disability
137882734
137890689
7956
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP48
8 yrs.
F
Intellectual disability
Speech delay
Mild ID
135259723
136631766
1372044
GRCh38
Triplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP48
8 yrs.
F
Intellectual disability
Speech delay
Mild ID
135227508
135259581
32074
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP48
8 yrs.
F
Intellectual disability
Speech delay
Mild ID
136637898
136974431
336534
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP51
8 yrs.
M
ASD
High-functioning ASD
137591513
137794423
202911
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP52
5 yrs.
M
Developmental delay
Speech delay. Family history: phenotypically normal mother.
Learning disability
137817927
138138735
320809
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP53
1 yr.
F
MCA
Multiple congenital anomalies. Karyotype: der(X)t(X;16).
137818094
138138735
320642
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP54
4 yrs.
F
MCA
Multiple congenital anomalies. Family history: phenotypically normal mother.
137825614
138138735
313122
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP55
5 yrs..
M
Developmental delay
Expressive language disorder
137825652
138138735
313084
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP56
2 yrs.
M
Dysmorphic features
Dysmorphic features. Karyotype: rec(6)(dup6p/del6q).
137825614
138138735
313122
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP57
6 yrs.
F
ASD
ASD
137865441
138138735
273295
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP58
9 yrs.
M
Intellectual disability
ID
137866031
138138735
272705
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP59
10 yrs.
M
ASD
ASD, developmental delay, obesity. Family history: phenotypically normal father.
137878123
138138735
260613
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
12 yrs.
M
Kleefstra syndrome
135227508
135390479
162972
GRCh38
Triplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
12 yrs.
M
Kleefstra syndrome
135390779
137305497
1914719
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
12 yrs.
M
Kleefstra syndrome
134948030
135227073
279044
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
12 yrs.
M
Kleefstra syndrome
137313800
138138735
824936
GRCh38
Deletion
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP60
15 yrs.
M
Dysmorphic features
Dysmorphic features
137873241
138138735
265495
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP61
3 yrs.
F
MCA
Multiple congenital anomalies
137818094
138138735
320642
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP64
16 yrs.
F
Kleefstra syndrome
137915556
138138735
223180
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP64
16 yrs.
F
Kleefstra syndrome
137546899
137913834
366936
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case376
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
138099749
138200932
101184
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0603-000
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
136167429
137909409
1741981
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control20091
N/A
F
Control
Control
138078127
138122900
44774
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036006377_
N/A
N/A
Control
No previous psychiatric history
135981754
136774659
792906
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB197815_1007874845
N/A
N/A
Control
No previous psychiatric history
138010188
138150037
139850
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB220230_1007853908
N/A
N/A
Control
No previous psychiatric history
137420573
137479337
58765
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB290151_1007874667
N/A
N/A
Control
No previous psychiatric history
136561760
136640251
78492
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB323068_1007875284
N/A
N/A
Control
No previous psychiatric history
136123565
136362959
239395
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB618029_1007874552
N/A
N/A
Control
No previous psychiatric history
137904007
138214775
310769
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB679080_1007872565
N/A
N/A
Control
No previous psychiatric history
135257320
135414214
156895
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB774526_1007873978
N/A
N/A
Control
No previous psychiatric history
135257471
135414214
156744
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB944909_1007844028
N/A
N/A
Control
No previous psychiatric history
135254982
135404738
149757
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB962764_1007843925
N/A
N/A
Control
No previous psychiatric history
137130394
137181987
51594
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900036_900036
N/A
N/A
Control
No previous psychiatric history
135257320
135404738
147419
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900045_900045
N/A
N/A
Control
No previous psychiatric history
135264475
135420547
156073
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900404_900404
N/A
N/A
Control
No previous psychiatric history
135257320
135414214
156895
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900472_900472
N/A
N/A
Control
No previous psychiatric history
135257320
135406318
148999
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900498_900498
N/A
N/A
Control
No previous psychiatric history
135259654
135366268
106615
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900522_900522
N/A
N/A
Control
No previous psychiatric history
135262424
135406318
143895
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900526_900526
N/A
N/A
Control
No previous psychiatric history
135266911
135404738
137828
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900687_900687
N/A
N/A
Control
No previous psychiatric history
136226827
136481974
255148
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901015_901015
N/A
N/A
Control
No previous psychiatric history
135257320
135406318
148999
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901027_901027
N/A
N/A
Control
No previous psychiatric history
135257320
135404738
147419
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902544_902544
N/A
N/A
Control
No previous psychiatric history
135257320
135414214
156895
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902637_902637
N/A
N/A
Control
No previous psychiatric history
135257320
135406318
148999
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902770_902770
N/A
N/A
Control
No previous psychiatric history
135257320
135406318
148999
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902802_902802
N/A
N/A
Control
No previous psychiatric history
136169628
136274448
104821
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902829_902829
N/A
N/A
Control
No previous psychiatric history
135254982
135406318
151337
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
N/A
N/A
Control
No previous psychiatric history
135257320
135404738
147419
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902955_902955
N/A
N/A
Control
No previous psychiatric history
135257320
135404738
147419
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1687
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
138149166
138263731
114566
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split244
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
138149166
138298164
148999
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12647.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12647. SRS score of 40.
137728348
137838841
110494
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13129.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13129. SRS score of 35.
136992924
136996543
3620
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13825.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13825. SRS score of 71.
138105698
138233806
128109
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11501.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
137464339
137498245
33907
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11620.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
136441754
136457584
15831
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12211.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
138105698
138233806
128109
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13129.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
136993579
136996543
2965
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13825.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
138112397
138233806
121410
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14207.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
136387484
136409067
21584
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_controls-controlPN400285
N/A
F
Control
Non-autism control
136969362
136996595
27234
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-12211.s1
NA
F
Control
NA
NA
138103691
138158172
54482
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12647.s1
NA
M
Control
NA
NA
137637952
138142498
504547
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12647.s3
NA
M
Control
NA
NA
137637952
138223326
585375
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29878A
N/A
F
Control
NIMH Control (NIMH ID 53597)
137480310
137615002
134693
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
135547176
135565516
18341
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C35764A
N/A
M
Control
NIMH Control (NIMH ID 81897)
136434035
136457584
23550
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C38820A
N/A
M
Control
NIMH Control (NIMH ID 21723)
136218677
136226876
8200
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C45035
N/A
M
Control
NIMH Control (NIMH ID 17924)
135756871
135758510
1640
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
135257320
135414214
156895
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11329.s1
6.9
M
Control (matched sibling)
NA
NA
138135626
138214775
79150
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11412.s1
10.5
F
Control (matched sibling)
NA
NA
135257320
135406318
148999
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11446.s1
11
F
Control (matched sibling)
NA
NA
136583069
136606873
23805
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11459.s1
14.3
M
Control (matched sibling)
NA
NA
138142193
138214775
72583
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11557.s1
6.8
M
Control (matched sibling)
NA
NA
135217099
135305363
88265
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11627.s1
8.2
F
Control (matched sibling)
NA
NA
136583069
136606873
23805
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11694.s1
6.6
F
Control (matched sibling)
NA
NA
136583069
136662605
79537
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
136773991
136780075
6085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11977.s1
13.3
F
Control (matched sibling)
NA
NA
137099650
137140083
40434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
136975462
136983865
8404
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12007.s1
10.9
M
Control (matched sibling)
NA
NA
136849045
136862347
13303
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12007.s1
10.9
M
Control (matched sibling)
NA
NA
134955019
134996406
41388
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12032.s1
7.2
F
Control (matched sibling)
NA
NA
136583069
136748571
165503
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12032.s1
7.2
F
Control (matched sibling)
NA
NA
137197680
137241842
44163
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12101.s1
5.1
M
Control (matched sibling)
NA
NA
136583069
136606873
23805
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12153.s1
16.5
F
Control (matched sibling)
NA
NA
136583069
136601576
18508
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12201.s1
12.1
M
Control (matched sibling)
NA
NA
137293125
137294639
1515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12211.s1
11.2
F
Control (matched sibling)
NA
NA
138107414
138214775
107362
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12212.s1
12.3
F
Control (matched sibling)
NA
NA
136583069
136606873
23805
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12346.s1
15
M
Control (matched sibling)
NA
NA
135420547
135465859
45313
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12568.s1
15.7
F
Control (matched sibling)
NA
NA
134810027
134810219
193
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
135257320
135401795
144476
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12647.s1
9.1
M
Control (matched sibling)
NA
NA
137647926
138214775
566850
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12785.s1
16.8
F
Control (matched sibling)
NA
NA
135257320
135406318
148999
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12924.s1
7.9
F
Control (matched sibling)
NA
NA
135257320
135406318
148999
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12937.s1
18.9
M
Control (matched sibling)
NA
NA
135257320
135401795
144476
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family41_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
137066267
137080081
13815
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
136336066
136383434
47369
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family47_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
137500767
137522796
22030
GRCh38
Duplication
Yes
stamouli_18_ASD/NDD_discovery_controls-family8_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
136739281
136757113
17833
GRCh38
Deletion
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-case32A
Unknown
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,NPDC1,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,SAPCD2,UAP1L1,ZMYND19,SLC34A3,MAMDC4,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,CYSRT1,PNPLA7,AJM1,LRRC26,LCNL1,NRARP,STPG3,LINC02908,FAM166A,RNF224,MIR602,RNF208,SETP5,STPG3-AS1,MAN1B1-DT,MIR4292,TMEM210,MIR3621,MIR4479,PTGDS,LINC02692,MIR7114,TRAF2,EDF1,SSNA1,CLIC3,TUBB4B,NOXA1,MAN1B1,NSMF,NELFB
akkus_24_ASD/DD/ID_discovery_cases-case9A
Unknown
CACNA1B,EHMT1,ARRDC1-AS1,ARRDC1,MIR602,SETP5
akter_23_ASD/ADHD/DD/ID_discovery_cases-case123
Unknown
KCNT1,CAMSAP1
akter_24_ASD/ADHD/DD/ID_discovery_cases-case567
Unknown
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,EGFL7,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,ZMYND19,DIPK1B,SLC34A3,LCN8,C9orf163,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,CYSRT1,PNPLA7,LCN15,AJM1,LRRC26,CCDC187,LCNL1,LINC01451,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,TUBBP5,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,IL9RP1,SETP5,STPG3-AS1,NOTCH1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,ATP6V1G1P3,MIR4673,MIR4674,MIR4479,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,TRAF2,SNAPC4,EDF1,SSNA1,CLIC3,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,ENTR1,NSMF,NELFB,PMPCA,GPSM1
brandler_18_ASD_discovery_cases-caseSSC03674
PCR or SNP data validation
Paternal
SETP5,EHMT1
brandler_18_ASD_replication_cases-case3-0338-000
No validation step reported
De novo
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,NACC2,SEC16A,RABL6,PRR31,MAN1B1
brandler_18_ASD_replication_cases-caseAU072004
No validation step reported
De novo
MIR4673,MIR4674,NALT1,LINC01451,NOTCH1
brandler_18_ASD_replication_cases-caseAU2792302
No validation step reported
Maternal
NOTCH1
bremer_11_ASD_discovery_cases-case33
MLPA, FISH
Maternal
NA
NA
DPP7,LRRC26,MIR3621,TMEM210,SSNA1,GRIN1,ANAPC2,MAN1B1
chan_22_ASD_discovery_cases-case3-0338-000
RT-PCR, qPCR, or ddPCR
De novo
C8G,ENTPD2,ABCA2,EGFL7,DPP7,PHPT1,FBXW5,RABL6,INPP5E,NPDC1,CARD9,SNHG7,TMEM141,SAPCD2,UAP1L1,CCDC183,TMEM250,NACC2,DIPK1B,LCN8,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,LCN12,PAXX,LCN15,AJM1,CCDC187,LCNL1,LINC01451,MIR126,LINC02908,LCN10,SNORA17B,SNORA17A,DNLZ,NOTCH1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,ATP6V1G1P3,MIR4673,MIR4674,MIR4479,PTGDS,NALT1,LINC02692,MIR6722,LINC02846,TRAF2,SNAPC4,EDF1,LHX3,CLIC3,SEC16A,AGPAT2,MAN1B1,ENTR1,PMPCA,GPSM1
chan_22_ASD_discovery_cases-case3-0603-000
Unknown
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,EGFL7,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,TMEM250,ZMYND19,NACC2,DIPK1B,SLC34A3,LCN8,CAMSAP1,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,CYSRT1,PNPLA7,LCN15,AJM1,LRRC26,CCDC187,LCNL1,LINC01451,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,SETP5,STPG3-AS1,NOTCH1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,ATP6V1G1P3,MIR4673,MIR4674,MIR4479,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,LINC02846,TRAF2,SNAPC4,EDF1,SSNA1,LHX3,CLIC3,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,ENTR1,UBAC1,NSMF,NELFB,PMPCA,GPSM1
chaves_19_ASD/DD/ID_discovery_cases-case64
Unknown
MIR4673,MIR4674,NALT1,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,NOTCH1,EGFL7,AGPAT2,DIPK1B,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,RABL6,LINC02692,MAN1B1
coe_14_ASD/DD/ID_discovery_cases-case737
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case738
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case739
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case740
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case741
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case742
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case743
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case744
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case745
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case746
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
coe_14_ASD/DD/ID_discovery_cases-case747
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
digregorio_17_DD/ID_discovery_cases-DECIPHER_299974
qPCR
De novo
C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300522
qPCR
Unknown
NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,PNPLA7,EHMT1,CACNA1B
egle_16_DD/ID_discovery_cases-case3_1
FISH or RT-PCR
Paternal
ARRDC1-AS1,SETP5,MIR602,ARRDC1,EHMT1,CACNA1B
engchuan_15_ASD_discovery_cases-case1243_4
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case13037_463
Unknown
LCN9,SOHLH1,CAMSAP1,KCNT1
engchuan_15_ASD_discovery_cases-case13080_943
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case14031_580
Unknown
FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,PRR31,MAN1B1
engchuan_15_ASD_discovery_cases-case14031_580
Unknown
C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,SEC16A,RABL6
engchuan_15_ASD_discovery_cases-case14296_4170
Unknown
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,EXD3
engchuan_15_ASD_discovery_cases-case14299_4200
Unknown
SOCS5P2,PPP1R26-AS1
engchuan_15_ASD_discovery_cases-case1946_301
Unknown
MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,RABL6,PRR31,MAN1B1,SLC34A3,EXD3
engchuan_15_ASD_discovery_cases-case1948_301
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case3204_4
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case3320_3
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case3495_3
Unknown
SOCS5P2,PPP1R26-AS1
engchuan_15_ASD_discovery_cases-case3617_3
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case4137_1
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case4201_1
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case4451_1
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case5211_3
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case5278_3
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case5301_3
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case6137_5
Unknown
SOCS5P2,PPP1R26-AS1
engchuan_15_ASD_discovery_cases-case6252_3
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case6301_3
Unknown
C9orf62
engchuan_15_ASD_discovery_cases-case8472_201
Unknown
C9orf62
fry_16_DD/ID/EP/ASD_discovery_cases-caseR660
Solid phase hybridization (Illumina)
De novo
MIR602,EHMT1,CACNA1B
gabriele_17_DD/ID_discovery_cases-case256842
De novo
Likely segregated
DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,SEC16A
gai_11_ASD_replication_cases-AU080403
Inherited
0 genes
girirajan_11_ASD_discovery_cases-Si48
Unknown
Simplex
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NACC2,SEC16A,RABL6,PRR31,MAN1B1
girirajan_11_ASD_discovery_cases-Si49
Unknown
Simplex
LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2200
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2201
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2202
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2203
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2204
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2205
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2206
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2207
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2208
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2209
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2210
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2211
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2212
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2213
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2214
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2215
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2216
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2217
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2218
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2219
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2220
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2221
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2222
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2223
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2224
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_12_ASD/DD/ID_discovery_cases-case2225
NA
Unknown
Unknown
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
girirajan_13a_ASD_discovery_cases-AU044004
Unknown
Multiplex
Unknown
TUBBP5,CACNA1B
girirajan_13b_ASD_discovery_cases-16008109701
Unknown
Unknown
Unknown
MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,RABL6,PRR31,MAN1B1
girirajan_13b_ASD_discovery_cases-9505103679
Unknown
Unknown
Unknown
MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,RABL6,PRR31
han_22_ASD/DD/ID_discovery_cases-caseY27
De novo
CACNA1B,EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,ENTPD8,PNPLA7,TUBBP5,MIR602,IL9RP1,SETP5,MIR7114,NOXA1,NSMF
iourov_12_ASD/ID/EP_discovery_cases-case34
Unknown
Unknown
Unknown
MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,COL5A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000856
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
EHMT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000993
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CACNA1B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001049
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001071
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001078
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR602,EHMT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001219
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,TUBBP5,PNPLA7,EHMT1,CACNA1B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001934
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ARRDC1-AS1,SETP5,MIR602,ARRDC1,EHMT1,CACNA1B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002029
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,PNPLA7,EHMT1,CACNA1B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002336
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,SEC16A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002432
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002590
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,NOXA1,DPH7,ARRDC1,PNPLA7,EHMT1,EXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002643
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002723
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SETP5,MIR602,EHMT1,CACNA1B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002787
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,SLC34A3,PNPLA7,EHMT1,EXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003797
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004171
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,EHMT1,CACNA1B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004791
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005090
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
EHMT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005318
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SETP5,MIR602,EHMT1,CACNA1B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005325
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MRPL41,ZMYND19,ARRDC1-AS1,SETP5,DPH7,ARRDC1,PNPLA7,EHMT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005414
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,MAN1B1,SLC34A3,EXD3
krumm_13_ASD_discovery_cases-case11356.p1
Maternal
Simplex
Segregated
LCN6,MIR6722,LCN10,LCN8
krumm_13_ASD_discovery_cases-case12334.p1
Paternal
Simplex
Segregated
SLC34A3
krumm_13_ASD_discovery_cases-case12647.p1
Maternal
Simplex
Not segregated
MIR602,EHMT1
krumm_13_ASD_discovery_cases-case13808.p1
Maternal
Simplex
Segregated
DPH7
krumm_15_ASD_discovery_cases-case11356.p1
Illumina 1M
Maternal
Simplex
Segregated
LCN6,MIR6722,LCN15,LCN10,LCN8
krumm_15_ASD_discovery_cases-case11501.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PNPLA7
krumm_15_ASD_discovery_cases-case12334.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SLC34A3
krumm_15_ASD_discovery_cases-case12568.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
INPP5E,SEC16A
krumm_15_ASD_discovery_cases-case12581.p1
Illumina 1MDuo
De novo
Simplex
Segregated
MIR602,TUBBP5,FAM157B,EHMT1,CACNA1B
krumm_15_ASD_discovery_cases-case12885.p1
1M-Duov3
Paternal
Simplex
Segregated
UBAC1
krumm_15_ASD_discovery_cases-case13641.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
INPP5E,SEC16A
krumm_15_ASD_discovery_cases-case14026.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
DPP7,MAN1B1
krumm_15_ASD_discovery_cases-case14207.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ENTR1,SNAPC4
lee_17_ASD/DD/ID/MCA_discovery_cases-case1
Unknown
LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,RABL6,PRR31,MAN1B1,SLC34A3
lee_17_ASD/DD/ID/MCA_discovery_cases-case16
Unknown
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,SEC16A
lee_17_ASD/DD/ID/MCA_discovery_cases-case17
Unknown
PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,MAN1B1,SLC34A3
lee_17_ASD/DD/ID/MCA_discovery_cases-case30
Unknown
MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,RABL6,PRR31,MAN1B1
lee_17_ASD/DD/ID/MCA_discovery_cases-case31
Unknown
FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,MAN1B1
levy_11_ASD_discovery_cases-11590.p1
Paternal
Simplex
Segregated
LHX3,QSOX2
levy_11_ASD_discovery_cases-12581.p1
De novo
Simplex
Segregated
MIR602,EHMT1,CACNA1B
maini_18_ASD/DD/ID_discovery_cases-case_unknown219
De novo
Unknown
Unknown
MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,PNPLA7,EHMT1,CACNA1B
maini_18_ASD/DD/ID_discovery_cases-case_unknown220
Maternal
Unknown
Unknown
MIR602,EHMT1,CACNA1B
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530527
Unknown
TOR4A,EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,ENTPD8,PNPLA7,NRARP,SETP5,MIR7114,NOXA1,NSMF,NELFB
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530528
Unknown
CACNA1B,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,TUBBP5,MIR602,IL9RP1,SETP5,FAM157B,OR4F8BP,RNU6-785P
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530946
Unknown
ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,DPP7,TOR4A,EXD3,NPDC1,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,SAPCD2,UAP1L1,ZMYND19,SLC34A3,FUT7,GRIN1,TPRN,PAXX,ENTPD8,CYSRT1,PNPLA7,LRRC26,LCNL1,NRARP,STPG3,LINC02908,FAM166A,TUBBP5,RNF224,MIR602,RNF208,IL9RP1,SETP5,STPG3-AS1,FAM157B,MAN1B1-DT,TMEM210,MIR3621,PTGDS,MIR7114,OR4F8BP,RNU6-785P,SSNA1,CLIC3,TUBB4B,NOXA1,MAN1B1,NSMF,NELFB
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251553
Unknown
Unknown
Unknown
ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,EHMT1,CACNA1B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2938
FISH
Unknown
Unknown
Unknown
NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,PNPLA7,EHMT1,CACNA1B
o'roak_12_ASD_discovery_cases-case12581.p1
aCGH, Sanger sequencing
De novo
Simplex (quad)
Segregated
MIR602,EHMT1,CACNA1B
pfundt_16_nonNDD_discovery_cases-case48
NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
pinto_10_ASD_discovery_cases-case1243_4
Illumina550;Affy5.0
maternal
NA
NA
C9orf62
pinto_10_ASD_discovery_cases-case1948_301
Illumina550
paternal
NA
NA
C9orf62
pinto_10_ASD_discovery_cases-case5136_4
qPCR
maternal
Multiplex
Unknown
LCN10, LCN6, LCN8
pinto_10_ASD_discovery_cases-case5211_3
Agilent1M
maternal
NA
NA
C9orf62
pinto_10_ASD_discovery_cases-case5405_3
Agilent1M
maternal
NA
NA
C9orf62
pinto_14_ASD_discovery_cases2-case6259_3
qPCR
De novo
Simplex
(1 healthy sister, no DNA)
MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,RNU6-785P,DPH7,ARRDC1,TUBBP5,FAM157B,PNPLA7,EHMT1,CACNA1B
poultney_13_ASD_discovery_cases-case00HI1548A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MRPL41,DPH7,PNPLA7
poultney_13_ASD_discovery_cases-case05HI3916A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MRPL41,DPH7,PNPLA7
poultney_13_ASD_discovery_cases-case98HI0555A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CACNA1B
prasad_12_ASD_discovery_cases-case115728L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case124630L
Unknown
Unknown
Unknown
WDR85,MRPL41,PNPLA7
prasad_12_ASD_discovery_cases-case146436L
Unknown
Unknown
Unknown
PNPLA7
prasad_12_ASD_discovery_cases-case155571L
Unknown
Unknown
Unknown
CACNA1B
prasad_12_ASD_discovery_cases-case47828
Unknown
Unknown
Unknown
LCN8,LCN6,LCN10,LOC100128593
quintela_17_DD/ID_discovery_cases-caseID_62
Unknown
Unknown
MRPL41,ZMYND19,ARRDC1-AS1,SETP5,DPH7,ARRDC1,PNPLA7,EHMT1
rosenfeld_10_ASD_discovery_cases-case17851
FISH
De novo
Unknown
Unknown
EHMT1,CACNA1B
rosenfeld_10_ASD_discovery_cases-case21191
FISH
Paternal
Unknown
Unknown
CACNA1B
rosenfeld_10_ASD_discovery_cases-case6880
FISH
Unknown
Unknown
Unknown
PAEP,GLT6D1,LCN9,SOHLH1,KCNT1,CAMSAP1,UBAC1,NACC2,C9orf69,LHX3,QSOX2,GPSM1,DNLZ,CARD9,SNAPC4,SDCCAG3,PMPCA,INPP5E,SEC16A,C9orf163,NOTCH1,EGFL7,AGPAT2,FAM69B,LCN10,LCN6,LCN8,LCN15,TMEM141,KIAA1984,C9orf86,C9orf172,PHPT1,MAMDC4,EDF1,TRAF2,FBXW5,C8G,LCN12,PTGDS,LCNL1,C9orf142,CLIC3,ABCA2,C9orf139,FUT7,NPDC1,ENTPD2,C9orf140,UAP1L1,MAN1B1,DPP7,GRIN1,LRRC26,ANAPC2,SSNA1,TPRN,TMEM203,NDOR1,RNF208,C9orf169,RNF224,SLC34A3,TUBB4B,FAM166A,C9orf173,COBRA1,C9orf167,NRARP,EXD3,NOXA1,ENTPD8,NELF,PNPLA7,MRPL41,WDR85,ZMYND19,ARRDC1,C9orf37,EHMT1,CACNA1B
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam10_P15
De novo
Simplex
Segregated
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,NPDC1,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,ZMYND19,SLC34A3,MAMDC4,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,CYSRT1,PNPLA7,AJM1,LRRC26,LCNL1,NRARP,STPG3,LINC02908,FAM166A,TUBBP5,RNF224,MIR602,RNF208,IL9RP1,SETP5,STPG3-AS1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,MIR4479,PTGDS,LINC02692,MIR7114,TRAF2,EDF1,SSNA1,CLIC3,TUBB4B,NOXA1,MAN1B1,NSMF,NELFB
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam1_P1
Unknown
Unknown
ENTPD2,CACNA1B,NDOR1,ANAPC2,DPP7,TOR4A,EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,SAPCD2,UAP1L1,ZMYND19,SLC34A3,GRIN1,TPRN,ENTPD8,CYSRT1,PNPLA7,LRRC26,NRARP,STPG3,FAM166A,TUBBP5,RNF224,MIR602,RNF208,IL9RP1,SETP5,STPG3-AS1,MAN1B1-DT,TMEM210,MIR3621,MIR7114,SSNA1,TUBB4B,NOXA1,MAN1B1,NSMF,NELFB
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam2_P2
WGS
De novo
Simplex
Segregated
CACNA1B,NDOR1,ANAPC2,DPP7,TOR4A,EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,UAP1L1,ZMYND19,SLC34A3,GRIN1,TPRN,ENTPD8,CYSRT1,PNPLA7,LRRC26,NRARP,STPG3,FAM166A,RNF224,MIR602,RNF208,SETP5,STPG3-AS1,MAN1B1-DT,TMEM210,MIR3621,MIR7114,SSNA1,TUBB4B,NOXA1,MAN1B1,NSMF,NELFB
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam3_P3
Paternal
Paternal
Simplex
Segregated
CACNA1B,NDOR1,ANAPC2,TOR4A,EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,ZMYND19,SLC34A3,GRIN1,TPRN,ENTPD8,CYSRT1,PNPLA7,LRRC26,NRARP,STPG3,FAM166A,RNF224,MIR602,RNF208,SETP5,STPG3-AS1,TMEM210,MIR3621,MIR7114,SSNA1,TUBB4B,NOXA1,NSMF,NELFB
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam4_P4
Paternal
Paternal
Simplex
Segregated
EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,ENTPD8,PNPLA7,MIR602,SETP5,MIR7114,NOXA1,NSMF
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam5_P5
Maternal
Maternal
Simplex
Segregated
EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,ENTPD8,PNPLA7,MIR602,SETP5,MIR7114,NOXA1,NSMF
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam5_P6
Unknown
Unknown
Simplex
Segregated
EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,ENTPD8,PNPLA7,MIR602,SETP5,MIR7114,NOXA1,NSMF
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam6_P7
Paternal
Paternal
Simplex
Not segregated
CACNA1B,EHMT1,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,MIR602,SETP5
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam6_P8
Paternal
Simplex
Not segregated
CACNA1B,EHMT1,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,MIR602,SETP5
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam6_P9
Unknown
Unknown
Simplex
Not segregated
CACNA1B,EHMT1,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,MIR602,SETP5
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam7_P10
De novo
Simplex
Segregated
CACNA1B,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,MIR602,SETP5
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam8_P11
Paternal
Paternal
Multiplex
Segregated
CACNA1B,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,MIR602,SETP5,NSMF
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam8_P12
Paternal
Paternal
Multiplex
Segregated
CACNA1B,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,MIR602,SETP5,NSMF
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam8_P13
Maternal
Multiplex
Segregated
CACNA1B,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,MIR602,SETP5,NSMF
rots_24_ASD/ADHD/DD/ID_discovery_cases-caseFam9_P14
FISH, WGS
De novo
Simplex
Segregated
CACNA1B,EHMT1,ARRDC1-AS1,ARRDC1,MIR602,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110007
De novo
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,NPDC1,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,SAPCD2,UAP1L1,ZMYND19,SLC34A3,MAMDC4,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,CYSRT1,PNPLA7,AJM1,LRRC26,LCNL1,NRARP,STPG3,LINC02908,FAM166A,RNF224,MIR602,RNF208,SETP5,STPG3-AS1,MAN1B1-DT,MIR4292,TMEM210,MIR3621,MIR4479,PTGDS,LINC02692,MIR7114,TRAF2,EDF1,SSNA1,CLIC3,TUBB4B,NOXA1,MAN1B1,NSMF,NELFB
rots_24_ASD/DD/ID_discovery_cases-caseKS110008
De novo
CACNA1B,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,MIR602,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110009
De novo
CACNA1B,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,MIR602,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110011
De novo
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,OBP2A,ANAPC2,EGFL7,MRPS2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,KCNT1,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,TMEM250,ZMYND19,NACC2,DIPK1B,PAEPP1,SLC34A3,LCN8,LINC02907,CAMSAP1,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,GLT6D1,CYSRT1,PNPLA7,LCN15,LCN9,AJM1,LRRC26,CCDC187,LCNL1,LINC01451,SOHLH1,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,TUBBP5,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,SOCS5P2,IL9RP1,SETP5,LINC01502,STPG3-AS1,NOTCH1,PAEP,LCN1,FAM157B,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,ATP6V1G1P3,MIR4673,PPP1R26-AS1,MIR4674,MIR4479,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,OR4F8BP,LINC02846,TRAF2,SNAPC4,RNU6-785P,EDF1,SSNA1,LHX3,CLIC3,PPP1R26,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,ENTR1,UBAC1,NSMF,NELFB,PMPCA,GPSM1
rots_24_ASD/DD/ID_discovery_cases-caseKS110015
De novo
CACNA1B,NDOR1,ANAPC2,DPP7,TOR4A,EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,SAPCD2,UAP1L1,ZMYND19,SLC34A3,GRIN1,TPRN,ENTPD8,CYSRT1,PNPLA7,LRRC26,NRARP,STPG3,FAM166A,RNF224,MIR602,RNF208,SETP5,STPG3-AS1,MAN1B1-DT,TMEM210,MIR3621,MIR7114,SSNA1,TUBB4B,NOXA1,MAN1B1,NSMF,NELFB
rots_24_ASD/DD/ID_discovery_cases-caseKS110020
De novo
CACNA1B,EHMT1,MIR602,IL9RP1,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110024
Unknown
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,OBP2A,ANAPC2,EGFL7,MRPS2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,KCNT1,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,TMEM250,ZMYND19,NACC2,DIPK1B,PAEPP1,SLC34A3,LCN8,LINC02907,CAMSAP1,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,GLT6D1,CYSRT1,PNPLA7,LCN15,LCN9,AJM1,LRRC26,CCDC187,LCNL1,LINC01451,SOHLH1,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,TUBBP5,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,SOCS5P2,IL9RP1,SETP5,LINC01502,STPG3-AS1,NOTCH1,PAEP,LCN1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,ATP6V1G1P3,MIR4673,PPP1R26-AS1,MIR4674,MIR4479,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,LINC02846,TRAF2,SNAPC4,EDF1,SSNA1,LHX3,CLIC3,PPP1R26,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,OLFM1,ENTR1,UBAC1,NSMF,NELFB,PMPCA,GPSM1
rots_24_ASD/DD/ID_discovery_cases-caseKS110025
De novo
CACNA1B,EHMT1,ARRDC1-AS1,ARRDC1,TUBBP5,MIR602,IL9RP1,SETP5,FAM157B,OR4F8BP,RNU6-785P
rots_24_ASD/DD/ID_discovery_cases-caseKS110027
Unknown
EHMT1,ARRDC1-AS1,ARRDC1,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110030
De novo
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,EGFL7,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,TMEM250,ZMYND19,NACC2,DIPK1B,SLC34A3,LCN8,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,CYSRT1,PNPLA7,LCN15,AJM1,LRRC26,CCDC187,LCNL1,LINC01451,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,SETP5,STPG3-AS1,NOTCH1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,ATP6V1G1P3,MIR4673,MIR4674,MIR4479,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,LINC02846,TRAF2,SNAPC4,EDF1,SSNA1,LHX3,CLIC3,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,ENTR1,NSMF,NELFB,PMPCA,GPSM1
rots_24_ASD/DD/ID_discovery_cases-caseKS110039
Familial
EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110042
Unknown
EHMT1,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110044
De novo
CACNA1B,EHMT1,MIR602
rots_24_ASD/DD/ID_discovery_cases-caseKS110047
Familial
EHMT1
rots_24_ASD/DD/ID_discovery_cases-caseKS110048
Familial
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,OBP2A,ANAPC2,EGFL7,MRPS2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,KCNT1,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,TMEM250,ZMYND19,NACC2,DIPK1B,PAEPP1,SLC34A3,LCN8,LINC02907,CAMSAP1,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,GLT6D1,CYSRT1,PNPLA7,LCN15,LCN9,AJM1,LRRC26,CCDC187,LCNL1,LINC01451,SOHLH1,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,SOCS5P2,SETP5,LINC01502,STPG3-AS1,NOTCH1,PAEP,LCN1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,ATP6V1G1P3,MIR4673,PPP1R26-AS1,MIR4674,MIR4479,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,LINC02846,TRAF2,SNAPC4,EDF1,SSNA1,LHX3,CLIC3,PPP1R26,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,ENTR1,UBAC1,NSMF,NELFB,PMPCA,GPSM1
rots_24_ASD/DD/ID_discovery_cases-caseKS110051
De novo
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,EGFL7,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,KCNT1,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,TMEM250,ZMYND19,NACC2,DIPK1B,SLC34A3,LCN8,CAMSAP1,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,CYSRT1,PNPLA7,LCN15,AJM1,LRRC26,CCDC187,LCNL1,LINC01451,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,TUBBP5,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,IL9RP1,SETP5,STPG3-AS1,NOTCH1,FAM157B,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,ATP6V1G1P3,MIR4673,MIR4674,MIR4479,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,LINC02846,TRAF2,SNAPC4,RNU6-785P,EDF1,SSNA1,LHX3,CLIC3,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,ENTR1,UBAC1,NSMF,NELFB,PMPCA,GPSM1
rots_24_ASD/DD/ID_discovery_cases-caseKS110055
Unknown
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,NPDC1,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,ZMYND19,DIPK1B,SLC34A3,LCN8,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,CYSRT1,PNPLA7,LCN15,AJM1,LRRC26,LCNL1,NRARP,STPG3,LINC02908,LCN10,FAM166A,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,SETP5,STPG3-AS1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,ATP6V1G1P3,MIR4479,PTGDS,LINC02692,MIR7114,MIR6722,TRAF2,EDF1,SSNA1,CLIC3,TUBB4B,NOXA1,AGPAT2,MAN1B1,NSMF,NELFB
rots_24_ASD/DD/ID_discovery_cases-caseKS110056
Unknown
CACNA1B,EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,ENTPD8,PNPLA7,MIR602,SETP5,MIR7114,NOXA1,NSMF
rots_24_ASD/DD/ID_discovery_cases-caseKS110058
De novo
EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,ENTPD8,PNPLA7,SETP5,MIR7114,NOXA1,NSMF
rots_24_ASD/DD/ID_discovery_cases-caseKS110060
Unknown
CACNA1B,EHMT1,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,TUBBP5,MIR602,IL9RP1,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110063
Unknown
EHMT1
rots_24_ASD/DD/ID_discovery_cases-caseKS110064
Unknown
CACNA1B,EHMT1,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,TUBBP5,MIR602,IL9RP1,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110067
De novo
EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7
rots_24_ASD/DD/ID_discovery_cases-caseKS110069
Unknown
EHMT1
rots_24_ASD/DD/ID_discovery_cases-caseKS110071
Unknown
CACNA1B,NDOR1,ANAPC2,TOR4A,EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,ZMYND19,SLC34A3,TPRN,ENTPD8,CYSRT1,PNPLA7,LRRC26,NRARP,STPG3,FAM166A,TUBBP5,RNF224,MIR602,RNF208,IL9RP1,SETP5,STPG3-AS1,FAM157B,TMEM210,MIR7114,OR4F8BP,RNU6-785P,SSNA1,TUBB4B,NOXA1,NSMF,NELFB
rots_24_ASD/DD/ID_discovery_cases-caseKS110072
Unknown
CACNA1B,EHMT1,TUBBP5,MIR602,IL9RP1,FAM157B
rots_24_ASD/DD/ID_discovery_cases-caseKS110073
Unknown
ENTPD2,CACNA1B,ABCA2,NDOR1,ANAPC2,DPP7,TOR4A,EXD3,NPDC1,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,SAPCD2,UAP1L1,ZMYND19,SLC34A3,FUT7,GRIN1,TPRN,PAXX,ENTPD8,CYSRT1,PNPLA7,LRRC26,NRARP,STPG3,LINC02908,FAM166A,TUBBP5,RNF224,MIR602,RNF208,IL9RP1,SETP5,STPG3-AS1,MAN1B1-DT,TMEM210,MIR3621,MIR7114,SSNA1,CLIC3,TUBB4B,NOXA1,MAN1B1,NSMF,NELFB
rots_24_ASD/DD/ID_discovery_cases-caseKS110079
Unknown
CACNA1B,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,MIR602,SETP5,NSMF
rots_24_ASD/DD/ID_discovery_cases-caseKS110083
Unknown
CACNA1B,EHMT1,ARRDC1-AS1,MIR602,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS110088
De novo
Segregated
EHMT1
rots_24_ASD/DD/ID_discovery_cases-caseKS110089
Maternal
Maternal
Multiplex
Segregated
EHMT1
rots_24_ASD/DD/ID_discovery_cases-caseKS110090
De novo
EHMT1
rots_24_ASD/DD/ID_discovery_cases-caseKS110091
Unknown
C8G,ENTPD2,CACNA1B,ABCA2,NDOR1,OBP2A,ANAPC2,EGFL7,MRPS2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,KCNT1,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,TMEM250,ZMYND19,NACC2,DIPK1B,PAEPP1,SLC34A3,LCN8,LINC02907,CAMSAP1,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,GLT6D1,CYSRT1,PNPLA7,LCN15,LCN9,AJM1,LRRC26,CCDC187,LCNL1,LINC01451,SOHLH1,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,SOCS5P2,SETP5,LINC01502,STPG3-AS1,NOTCH1,PAEP,LCN1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,ATP6V1G1P3,MIR4673,PPP1R26-AS1,MIR4674,MIR4479,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,LINC02846,TRAF2,SNAPC4,EDF1,SSNA1,LHX3,CLIC3,PPP1R26,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,ENTR1,UBAC1,NSMF,NELFB,PMPCA,GPSM1
rots_24_ASD/DD/ID_discovery_cases-caseKS110100
De novo
CACNA1B,EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,TUBBP5,MIR602,IL9RP1,SETP5,FAM157B,OR4F8BP,RNU6-785P
rots_24_ASD/DD/ID_discovery_cases-caseKS110103
De novo
EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseKS13003
De novo
CACNA1B,EHMT1,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,MIR602,SETP5
rots_24_ASD/DD/ID_discovery_cases-caseVUS-Diagnostic110004
De novo
CACNA1B,NDOR1,ANAPC2,DPP7,TOR4A,EXD3,EHMT1,MRPL41,DPH7,ARRDC1-AS1,TMEM203,ARRDC1,ZMYND19,SLC34A3,GRIN1,TPRN,ENTPD8,CYSRT1,PNPLA7,LRRC26,NRARP,STPG3,FAM166A,TUBBP5,RNF224,MIR602,RNF208,IL9RP1,SETP5,STPG3-AS1,FAM157B,TMEM210,MIR3621,MIR7114,OR4F8BP,RNU6-785P,SSNA1,TUBB4B,NOXA1,MAN1B1,NSMF,NELFB
rots_24_ASD/DD/ID_discovery_cases-caseVUS-Diagnostic110006
De novo
C8G,ENTPD2,CACNA1B,ABCA2,FCN1,COL5A1,FCN2,NDOR1,OBP2A,ANAPC2,EGFL7,MRPS2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,KCNT1,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,TMEM250,ZMYND19,NACC2,DIPK1B,PAEPP1,SLC34A3,LCN8,LINC02907,CAMSAP1,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,GLT6D1,CYSRT1,PNPLA7,LCN15,LCN9,AJM1,LRRC26,CCDC187,LCNL1,COL5A1-AS1,LINC01451,SOHLH1,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,SOCS5P2,SETP5,LINC01502,STPG3-AS1,NOTCH1,PAEP,LCN1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,MIR3689B,MIR3689A,ATP6V1G1P3,MIR4673,MIR3689F,PPP1R26-AS1,MIR3689D1,MIR3689D2,MIR4674,MIR3689C,MIR3689E,MIR4479,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,LINC02846,TRAF2,SNAPC4,EDF1,SSNA1,LHX3,CLIC3,PPP1R26,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,OLFM1,ENTR1,UBAC1,NSMF,NELFB,PMPCA,GPSM1
rots_24_ASD/DD/ID_discovery_cases-caseVUS-Diagnostic110066
De novo
EHMT1
rots_24_ASD/DD/ID_discovery_cases-caseVUSM110048
De novo
EHMT1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1083-0
Not tested by qPCR
Unknown
Unknown
Unknown
SOCS5P2,PPP1R26-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1314-0
Not tested by qPCR
Unknown
Unknown
Unknown
TUBBP5
sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,SLC34A3,EXD3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
Not tested by qPCR
Unknown
Unknown
Unknown
TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,TPRN,NDOR1,NELFB,TOR4A,SLC34A3,EXD3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01451,MIR126,SNORA17B,SNORA17A,HSPC324,EGFL7,AGPAT2,SNHG7
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
Not tested by qPCR
Unknown
Unknown
Unknown
TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,TPRN,NDOR1,NELFB,TOR4A,SLC34A3,EXD3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
Not tested by qPCR
Unknown
Unknown
Unknown
MIR126,HSPC324,EGFL7,AGPAT2,SNHG7
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-181
qPCR
Unknown
Unknown
Unknown
CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-093
Not tested by qPCR
Unknown
Unknown
Unknown
SOCS5P2,PPP1R26-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-368
Not tested by qPCR
Unknown
Unknown
Unknown
C9orf62
sanders_11_ASD_discovery_cases-11225.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
NOXA1,EXD3
sanders_11_ASD_discovery_cases-11229.p1
Maternal
Simplex (quad-proband matched)
Segregated
ATP6V1G1P3
sanders_11_ASD_discovery_cases-11352.p1
Paternal
Simplex (quad-proband matched)
Segregated
ATP6V1G1P3
sanders_11_ASD_discovery_cases-11356.p1
Maternal
Simplex (quad-proband matched)
Segregated
LCN6,MIR6722,LCN15,LCN10,LCN8
sanders_11_ASD_discovery_cases-11372.p1
Both parents
Simplex (quad-proband matched)
Segregated
NPDC1,C9orf139,ENTPD2,SAPCD2
sanders_11_ASD_discovery_cases-11401.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ATP6V1G1P3
sanders_11_ASD_discovery_cases-11439.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC01451
sanders_11_ASD_discovery_cases-11446.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC01451
sanders_11_ASD_discovery_cases-11472.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11501.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PNPLA7
sanders_11_ASD_discovery_cases-11565.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
ATP6V1G1P3
sanders_11_ASD_discovery_cases-11590.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LHX3,QSOX2
sanders_11_ASD_discovery_cases-11620.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC01451
sanders_11_ASD_discovery_cases-11622.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC01451
sanders_11_ASD_discovery_cases-11680.p1
Paternal
Simplex (trio)
NA
TMEM203,RNF208,CYSRT1,RNF224,TPRN,NDOR1
sanders_11_ASD_discovery_cases-11694.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC01451
sanders_11_ASD_discovery_cases-11835.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ATP6V1G1P3
sanders_11_ASD_discovery_cases-11920.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11935.p1
Both parents
Simplex (quad-proband matched)
Not segregated
AJM1,PHPT1,MAMDC4,RABL6
sanders_11_ASD_discovery_cases-11935.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DPP7,GRIN1,MAN1B1
sanders_11_ASD_discovery_cases-11977.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PTGDS
sanders_11_ASD_discovery_cases-12007.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC01451
sanders_11_ASD_discovery_cases-12007.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PTGDS,LCNL1,PAXX,CLIC3,ABCA2
sanders_11_ASD_discovery_cases-12007.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ENTPD8,NOXA1
sanders_11_ASD_discovery_cases-12019.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
TMEM203,RNF208,CYSRT1,RNF224,TPRN,NDOR1,SLC34A3
sanders_11_ASD_discovery_cases-12032.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ENTPD8,NOXA1
sanders_11_ASD_discovery_cases-12032.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,TPRN,NDOR1,SLC34A3
sanders_11_ASD_discovery_cases-12048.p1
Both parents
Simplex (quad-proband matched)
Segregated
LINC01451
sanders_11_ASD_discovery_cases-12048.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TUBBP5
sanders_11_ASD_discovery_cases-12101.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12103.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
TRAF2
sanders_11_ASD_discovery_cases-12160.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
C9orf62
sanders_11_ASD_discovery_cases-12201.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12255.p1
Unknown
Simplex (quad-proband matched)
Not segregated
COL5A1
sanders_11_ASD_discovery_cases-12568.p1
Paternal
Simplex (quad-proband matched)
Not segregated
INPP5E,SEC16A
sanders_11_ASD_discovery_cases-12581.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MIR602,TUBBP5,EHMT1,CACNA1B
sanders_11_ASD_discovery_cases-12621.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C9orf62
sanders_11_ASD_discovery_cases-12710.p1
Paternal
Simplex (trio)
NA
PTGDS,LCN12,PRR31
sanders_11_ASD_discovery_cases-12710.p1
Both parents
Simplex (trio)
NA
LCNL1,PAXX,CLIC3,ABCA2
sanders_11_ASD_discovery_cases-12710.p1
Both parents
Simplex (trio)
NA
LINC01451
sanders_11_ASD_discovery_cases-12717.p1
Both parents
Simplex (trio)
NA
LINC01451
sanders_11_ASD_discovery_cases-12741.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12785.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C9orf62
sanders_11_ASD_discovery_cases-12821.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C9orf62
sanders_11_ASD_discovery_cases-12937.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C9orf62
sansovic_17_DD/ID/ASD_discovery_cases-case105
Unknown
NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,PNPLA7,EHMT1,CACNA1B,EXD3
schmidt_24_ASD/DD/ID_discovery_cases-case1133
Unknown
EHMT1
sheth_23_ASD_discovery_cases-caseASD-103
qPCR, WES
De novo
Simplex
Segregated
EHMT1,MRPL41,DPH7,ARRDC1-AS1,ARRDC1,ZMYND19,PNPLA7,MIR7114,NSMF
soueid_16_ASD_discovery_cases-caseBAK42
De novo
Simplex
EHMT1
tammimies_15_ASD_discovery_cases-case3-0338-000
De novo
Unknown
Possibly segregated
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,NACC2,SEC16A,RABL6,PRR31
tzetis_12_DD/ID_discovery_cases-case71
De novo
Unknown
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
tzetis_12_DD/ID_discovery_cases-case73
Unknown
Unknown
MIR4673,NOTCH1
tzetis_12_DD/ID_discovery_cases-case73
Unknown
Unknown
MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,TUBBP5,FAM157B,PNPLA7,EHMT1,CACNA1B
werling_19_ASD_discovery_cases-caseA071
Unknown
PNPLA7
yatsenko_12_ASD/DD/ID_discovery_cases-caseP20
PCR
Maternal
CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP25
PCR
De novo
MIR602,EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP33
PCR
Maternal
Maternal
MIR602,EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP46
PCR
Maternal
Maternal
FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,EXD3
yatsenko_12_ASD/DD/ID_discovery_cases-caseP47
PCR
De novo
MRPL41,DPH7,PNPLA7
yatsenko_12_ASD/DD/ID_discovery_cases-caseP47
PCR
De novo
CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP47
PCR
De novo
ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP47
PCR
De novo
CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP48
PCR
De novo
C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,KCNT1,NACC2,SEC16A
yatsenko_12_ASD/DD/ID_discovery_cases-caseP48
PCR
De novo
yatsenko_12_ASD/DD/ID_discovery_cases-caseP48
PCR
De novo
MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,RABL6,PRR31
yatsenko_12_ASD/DD/ID_discovery_cases-caseP51
PCR
De novo
ARRDC1-AS1,SETP5,ARRDC1,EHMT1
yatsenko_12_ASD/DD/ID_discovery_cases-caseP52
PCR
Maternal
MIR602,EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP53
PCR
Unknown
MIR602,EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP54
PCR
Maternal
MIR602,EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP55
PCR
De novo
MIR602,EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP56
PCR
Unknown
MIR602,EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP57
PCR
Unknown
EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP58
PCR
De novo
EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP59
PCR
Paternal
CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
PCR
De novo
C9orf62
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
PCR
De novo
SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
PCR
De novo
OLFM1
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
PCR
De novo
ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,NOXA1,DPH7,ARRDC1,PNPLA7,EHMT1,CACNA1B,EXD3
yatsenko_12_ASD/DD/ID_discovery_cases-caseP60
PCR
Unknown
CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP61
PCR
Unknown
MIR602,EHMT1,CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP64
PCR
De novo
CACNA1B
yatsenko_12_ASD/DD/ID_discovery_cases-caseP64
PCR
De novo
MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,DPH7,ARRDC1,PNPLA7,EHMT1,CACNA1B
yin_16_ASD_discovery_cases-case376
Unknown
Unknown
Unknown
TUBBP5,CACNA1B
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0603-000
RT-qPCR or WGS
Unknown
DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,EGFL7,AGPAT2,DIPK1B,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,SEC16A,RABL6,LINC02692,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20091
Unknown
CACNA1B
engchuan_15_ASD_discovery_controls-control110036006377_
Unknown
DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,NACC2,SEC16A
engchuan_15_ASD_discovery_controls-controlB197815_1007874845
Unknown
CACNA1B
engchuan_15_ASD_discovery_controls-controlB220230_1007853908
Unknown
ENTPD8,NSMF,MIR7114,NOXA1,PNPLA7,EXD3
engchuan_15_ASD_discovery_controls-controlB290151_1007874667
Unknown
LINC01451
engchuan_15_ASD_discovery_controls-controlB323068_1007875284
Unknown
DKFZP434A062,DNLZ,LHX3,QSOX2,CCDC187,GPSM1,CARD9
engchuan_15_ASD_discovery_controls-controlB618029_1007874552
Unknown
TUBBP5,CACNA1B
engchuan_15_ASD_discovery_controls-controlB679080_1007872565
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlB774526_1007873978
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlB944909_1007844028
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlB962764_1007843925
Unknown
LRRC26,MIR3621,TMEM210,GRIN1,ANAPC2
engchuan_15_ASD_discovery_controls-controlHABC_900036_900036
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_900045_900045
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_900404_900404
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_900472_900472
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_900498_900498
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_900522_900522
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_900526_900526
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_900687_900687
Unknown
DKFZP434A062,DNLZ,ENTR1,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,SEC16A
engchuan_15_ASD_discovery_controls-controlHABC_901015_901015
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_901027_901027
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_902544_902544
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_902637_902637
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_902770_902770
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_902802_902802
Unknown
LHX3,QSOX2,CCDC187
engchuan_15_ASD_discovery_controls-controlHABC_902829_902829
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
Unknown
C9orf62
engchuan_15_ASD_discovery_controls-controlHABC_902955_902955
Unknown
C9orf62
kanduri_15_ASD_discovery_controls-control_split1687
Unknown
C9orf62
kanduri_15_ASD_discovery_controls-control_split244
Unknown
C9orf62
krumm_13_ASD_discovery_controls-control12647.s1
Maternal
Simplex
MIR602,EHMT1
krumm_13_ASD_discovery_controls-control13129.s1
Paternal
Simplex
PAXX,CLIC3
krumm_13_ASD_discovery_controls-control13825.s1
Paternal
Simplex
TUBBP5,FAM157B,CACNA1B
krumm_15_ASD_discovery_controls-control11501.s1
Illumina 1M
Maternal
PNPLA7
krumm_15_ASD_discovery_controls-control11620.s1
Illumina 1MDuo
Maternal
SEC16A
krumm_15_ASD_discovery_controls-control12211.s1
Illumina 1MDuo
Paternal
TUBBP5,FAM157B,CACNA1B
krumm_15_ASD_discovery_controls-control13129.s1
1M-Duov3
Paternal
PAXX,CLIC3
krumm_15_ASD_discovery_controls-control13825.s1
Omni2.5-4v1
Paternal
TUBBP5,FAM157B,CACNA1B
krumm_15_ASD_discovery_controls-control14207.s1
Omni2.5-4v1
Paternal
ENTR1,SNAPC4
leblond_19_ASD_discovery_controls-controlPN400285
Unknown
PTGDS,LCNL1,PAXX,CLIC3,PRR31
levy_11_ASD_discovery_controls-12211.s1
Paternal
Simplex
NA
TUBBP5,CACNA1B
levy_11_ASD_discovery_controls-12647.s1
Maternal
Simplex
NA
SETP5,MIR602,EHMT1,CACNA1B
levy_11_ASD_discovery_controls-12647.s3
Maternal
Simplex
NA
SETP5,MIR602,TUBBP5,FAM157B,EHMT1,CACNA1B
poultney_13_ASD_discovery_controls-control04C29878A
Unknown
MRPL41,ZMYND19,DPH7,ARRDC1,PNPLA7
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
OBP2A,PAEP
poultney_13_ASD_discovery_controls-control04C35764A
Unknown
INPP5E,SEC16A
poultney_13_ASD_discovery_controls-control05C38820A
Unknown
QSOX2
poultney_13_ASD_discovery_controls-control05C45035
Unknown
KCNT1
sanders_11_ASD_discovery_controls-11194.s1
Paternal
Simplex (quad)
NA
C9orf62
sanders_11_ASD_discovery_controls-11329.s1
Paternal
Simplex (quad)
NA
TUBBP5
sanders_11_ASD_discovery_controls-11412.s1
Paternal
Simplex (quad)
NA
C9orf62
sanders_11_ASD_discovery_controls-11446.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11459.s1
Paternal
Simplex (quad)
NA
TUBBP5
sanders_11_ASD_discovery_controls-11557.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11627.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11694.s1
Unknown
Simplex (quad)
NA
LINC01451,HSPC324,EGFL7
sanders_11_ASD_discovery_controls-11835.s1
Unknown
Simplex (quad)
NA
ATP6V1G1P3
sanders_11_ASD_discovery_controls-11977.s1
Unknown
Simplex (quad)
NA
DPP7,GRIN1,MAN1B1
sanders_11_ASD_discovery_controls-11986.s1
Unknown
Simplex (quad)
NA
PTGDS,LCNL1
sanders_11_ASD_discovery_controls-12007.s1
Both parents
Simplex (quad)
NA
PHPT1,EDF1,MAMDC4
sanders_11_ASD_discovery_controls-12007.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12032.s1
Unknown
Simplex (quad)
NA
LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10
sanders_11_ASD_discovery_controls-12032.s1
Maternal
Simplex (quad)
NA
TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,TPRN,NDOR1,SLC34A3
sanders_11_ASD_discovery_controls-12101.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12153.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12201.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12211.s1
Paternal
Simplex (quad)
NA
TUBBP5,CACNA1B
sanders_11_ASD_discovery_controls-12212.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12346.s1
Paternal
Simplex (quad)
NA
SOCS5P2,PPP1R26-AS1
sanders_11_ASD_discovery_controls-12568.s1
Unknown
Simplex (quad)
NA
COL5A1
sanders_11_ASD_discovery_controls-12621.s1
Maternal
Simplex (quad)
NA
C9orf62
sanders_11_ASD_discovery_controls-12647.s1
Maternal
Simplex (quad)
NA
MIR602,TUBBP5,EHMT1,CACNA1B
sanders_11_ASD_discovery_controls-12785.s1
Paternal
Simplex (quad)
NA
C9orf62
sanders_11_ASD_discovery_controls-12924.s1
Paternal
Simplex (quad)
NA
C9orf62
sanders_11_ASD_discovery_controls-12937.s1
Paternal
Simplex (quad)
NA
C9orf62
stamouli_18_ASD/NDD_discovery_controls-family41_Twin_1
Unknown
N/A (both twins typically developing)
UAP1L1,SAPCD2
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
Unknown
N/A (both twins typically developing)
DNLZ,GPSM1,CARD9,SNAPC4
stamouli_18_ASD/NDD_discovery_controls-family47_Twin_1
qPCR, found also in cotwin
Unknown
Simplex
PNPLA7
stamouli_18_ASD/NDD_discovery_controls-family8_Twin_2
Unknown
N/A (both twins typically developing)
LCN6,MIR6722,LCN10,LCN8
No Animal Model Data Available