3p25.3CNV Type: Deletion-Duplication
Largest CNV size: 753586 bp
Statistics Box:
Number of Reports: 22
Number of Reports: 22
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
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
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
Deletion
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder
Deletion
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
2748
2
0
2
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
36906
0
8
8
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
1500000
0
10
10
crippa_20_DD/ID_discovery_cases
First born child of non-consanguineous healthy parents presenting with a de novo 3p25.3 deletion involving the SETD5 gene
1
Case presented with developmental delay and mild intellectual disability (WISC-III)
12 yrs. 8 mos.
Female
116066
1
0
1
defalco_25_DD/ID_discovery_cases
Individuals with microdeletions affecting the SETD5 gene from an initial cohort of 28 previously unreported individuals with SETD5 variants who came from 9 European Centers for Genetics and Child or Adult Neurology (Italy, Germany, France).
2
Both individuals presented with developmental delay/intellectual disability (DD/ID); one individual also presented with seizures, while the other also presented with stereotypy.
Range, 2-9 yrs.
50% Male
114903
1
0
1.1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
14578
1
0
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
171991
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
274000
0
1
1
gregory_09_ASD_discovery_cases
Probands from multiplex autism families
119
Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
78.15% Male
753586
1
0
1
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
119762
1
0
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
574390
2
1
3
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
7446
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
128231
0
2
2
laurie_25_ASD/DD/ID_discovery_cases
Individuals with previously undiagnosed rare diseases from 6,004 families from the Solve-Rare Diseases Consortium (Solve-RD) resource for whom systemic reanalysis of exome or genome sequencing data was performed and phenotypic information was annotated using the Human Phenotype Ontology.
6447
"Individuals with autism or autistic features as defined by one or more of the following HPO terms: ""Autism"", ""Autistic behavior"", ""Stereotypy"", or ""Recurrent hand flapping""."
NA
55.71% Male
2527
1
0
1.1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
272239
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
966134
1
0
1
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
24043
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)
6321
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
264762
5
21
26
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
159000
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)
1900000
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
50656
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
1500000
0
0
0
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
177050
1
3
4
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
753586
0
0
0
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
119762
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
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
3596
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
13139
0
1
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
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
32222
4
14
18
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
50656
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
crippa_20_DD/ID_discovery_cases
Italian
aCGH
Agilent SurePrint G3 2x400K
Agilent CytoGenomics v.3.0
None
defalco_25_DD/ID_discovery_cases
European
aCGH
NA
NA.1
NA.2
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
gregory_09_ASD_discovery_cases
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
qPCR, microsatellite analysis
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
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)
laurie_25_ASD/DD/ID_discovery_cases
European
Exome sequencing, genome sequencing
NA.1
NA.2
ClinCNV, Conifer, ExomeDepth
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
No
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
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-case7-0197-003
N/A
F
ASD
Case from MSSNG cohort
9180773
9183520
2748
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU4444304
N/A
F
ASD
Case from MSSNG cohort
9180773
9183520
2748
GRCh38
Deletion
No
brand_15_ASD_discovery_cases-case10
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication previously observed by aCGH (chr3:8825741-8857963; hg19).
8781964
8818870
36907
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case10
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication not previously observed by aCGH.
8779294
8779905
612
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case11
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication previously observed by aCGH (chr3:8826396-8857963; hg19).
8781964
8818870
36907
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case11
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication not previously observed by aCGH.
8779294
8779905
612
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case12
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication previously observed by aCGH (chr3:8825741-8857963; hg19).
8781964
8818870
36907
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case12
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication not previously observed by aCGH.
8779294
8779905
612
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case9
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication previously observed by aCGH (chr3:8825741-8857963; hg19).
8781964
8818870
36907
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case9
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication not previously observed by aCGH.
8779294
8779905
612
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case600
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case601
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case602
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case603
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case604
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case605
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case606
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case607
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case608
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case609
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
9483316
10983314
1499999
GRCh38
Duplication
No
crippa_20_DD/ID_discovery_cases-case1
12 yrs. 8 mos.
F
Developmental delay and intellectual disability
Birth/neonatal history: delivery by caesarean section due to nuchal cord; small for gestational age (birth weight 3rd %ile). Developmental milestones: developmental delay, delayed ability to walk (16 months). Language and communication evaluation: nasal speech. Motor and musculoskeletal evaluation: mild brachydactyly. Behavioral/psychiatric evaluation: short attention span, inhibited and immature personality. Visual evaluation: mild strabismus, astigmatism. Hearing evaluation: diagnosis of mild hearing impairment at 10 years. Additional medical history: persistent mild constipation. Dysmorphic features: triangular face, low anterior hairline, thick eyebrows, broad nasal root, bulbous nasal tip, long philtrum, broad incisors, long palpebral fissures, mild asymmetrical ptosis, narrow palate, low-set/abnormal ears, anteverted nares, thin upper lip vermillion, macrodontia, ridged teeth, malposition of teeth. Growth parameters: microcephaly (OFC <3rd %ile); height 10th %ile, weight 3rd %ile. Family history: first child of non-consanguineous and healthy Italian parents.
Mild intellectual disability (WISC-III IQ of 70 at 8 years 9 months)
9346090
9462155
116066
GRCh38
Deletion
No
defalco_25_DD/ID_discovery_cases-case5
2 yrs.
M
Developmental delay, intellectual disability, and seizures
Developmental milestones: global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: mild hypotonia, paroxysmal non-epileptic manifestations (eye and head deviation). Behavioral/psychiatric evaluation: oppositional behaviors. Epilepsy/seizures: simple febrile seizures. EEG: sharp wave and slow wave complexes over the frontal-parietal-temporal left brain areas.
Global developmental delay/intellectual disability
9394874
9509776
114903
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA116
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
11435254
11449831
14578
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000031
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S37
N/A
9683008
9854999
171992
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11415.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
11193314
11473526
280213
GRCh38
Duplication
No
gregory_09_ASD_discovery_cases-200309436
NA
ASD
NA
NA
8215240
8968829
753590
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case7804
NA
NA
ASD/autism
NA
NA
10806725
10926486
119762
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000858
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
9221810
9727021
505212
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002439
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
9393349
9956171
562823
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003903
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
9654297
10228687
574391
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12851.p1
N/A
M
ASD
ASD proband from SSC quad family 12851. SRS score of 90.
Full-scale IQ (FSIQ) score of 37.
9825799
9833245
7447
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11415.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
11298695
11426926
128232
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12851.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
9825799
9829395
3597
GRCh38
Duplication
Yes
laurie_25_ASD/DD/ID_discovery_cases-caseP0015673
NA
F
Developmental delay, intellectual disability, seizures, and stereotypy
Sparse and thin eyebrow/Intellectual disability/Intellectual disability, mild/Global developmental delay/Intellectual disability, moderate/Highly arched eyebrow/Preauricular pit/Hyperreflexia in upper limbs/Atonic seizures/Mild global developmental delay/Neurodevelopmental delay/Recurrent hand flapping
Unnamed: 7
11034495
11037021
2527
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11415.p1
NA
M
ASD
NA
NA
11200186
11472636
272451
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case84
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: VHL deletion (ACGM)
9952321
10918454
966134
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case3616_3
N/A
M
ASD
Autism (autism on both ADI-R and ADOS), language delay (first words 24 mo), verbal. Born at term after normal pregnancy and delivery; no feeding or sleep problems; body length and head circumference during the first year of life were consistently between 0 to 1 SD; walked at 15 months; normal vision and hearing; had sensory-integration training because of over and undersensitivity; asthma and hay fever, no other medical issues, no seizures. Concerns about ADHD-like behavior in childhood, but did not fulfill criteria for ADHD and there are no concerns about hyperactivity at present. At 16 y, normal height and weight (50%ile), no obvious dysmorphic features (in particular, no ptosis, normal ears, no depressed nasal bridge, no long or prominent philtrum, no thin upper lip vermillion), normal fingers and toes. Family history: both parents unaffected; one non-ASD younger brother (not tested).
Borderline IQ (WISC-III: VIQ 64, PIQ 82, FSIQ 70)
9457636
9481678
24043
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case98HI0240A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU008904; NDAR ID NDAR_INVHG335TK5)
11358416
11364736
6321
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11128.p1
11.4
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
8784337
8816277
31941
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11262.p1
6.2
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
8784055
8812681
28627
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11296.p1
13.6
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 71
8784710
8816277
31568
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
9321588
9325236
3649
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11398.p1
12.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11415.p1
11.6
M
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
11203220
11468194
264975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
10607783
10624387
16605
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11550.p1
8.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
9878722
9887498
8777
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11604.p1
17.2
F
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 23; verbal IQ 13
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11610.p1
7.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
8784055
8812681
28627
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11676.p1
7.1
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
8784055
8829531
45477
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
8784055
8812681
28627
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
9879932
9887498
7567
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
10192381
10197477
5097
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12460.p1
9.4
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
8784055
8812029
27975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12485.p1
6.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
8792192
8816277
24086
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12575.p1
17
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 98; verbal IQ, 109
8784055
8812029
27975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12598.p1
17.4
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
8784055
8812681
28627
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12618.p1
5.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 102
8784055
8812029
27975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12836.p1
6.8
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
8784055
8812681
28627
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12955.p1
13.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 66; verbal IQ, 67
8792192
8812681
20490
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13193.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
8784055
8816277
32223
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case25
11 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies
10109188
10267893
158706
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case11
F
Epilepsy
Microcephaly, microretrognathia, high frontal and nuchal hairline, triangular face, seizures, retinal dystrophy, hypothyroidism, short stature, behavioral problems
9483188
11389832
1906645
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case96
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
10079739
10100768
21030
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case97
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
10290380
10341035
50656
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB778845_1007854001
N/A
N/A
Control
No previous psychiatric history
10140878
10201027
60150
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900152_900152
N/A
N/A
Control
No previous psychiatric history
8732443
8909495
177053
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900517_900517
N/A
N/A
Control
No previous psychiatric history
11394939
11437486
42548
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
N/A
N/A
Control
No previous psychiatric history
10140878
10201027
60150
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12851.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12851. SRS score of 41.
9825799
9829395
3597
GRCh38
Duplication
No (False Positive)
krumm_15_ASD_discovery_controls-control12901.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10085811
10098950
13140
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11262.s1
4.8
M
Control (matched sibling)
NA
NA
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11296.s1
14
M
Control (matched sibling)
NA
NA
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11348.s1
9.2
F
Control (matched sibling)
NA
NA
8788186
8816277
28092
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11378.s1
11.2
M
Control (matched sibling)
NA
NA
9878722
9887498
8777
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11499.s1
12.9
M
Control (matched sibling)
NA
NA
10607783
10618126
10344
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11550.s1
6.6
F
Control (matched sibling)
NA
NA
9875970
9887498
11529
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11610.s1
9.4
M
Control (matched sibling)
NA
NA
8784055
8812029
27975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11667.s1
8.3
M
Control (matched sibling)
NA
NA
8784055
8816277
32223
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
8788186
8816277
28092
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
10132058
10133045
988
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12173.s1
4.1
M
Control (matched sibling)
NA
NA
8788186
8816277
28092
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12335.s1
4.7
F
Control (matched sibling)
NA
NA
8784055
8812681
28627
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12380.s1
17
F
Control (matched sibling)
NA
NA
8784055
8812029
27975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12460.s1
7
M
Control (matched sibling)
NA
NA
8784055
8812681
28627
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12575.s1
18.6
M
Control (matched sibling)
NA
NA
8784055
8812681
28627
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12618.s1
6.8
M
Control (matched sibling)
NA
NA
8784055
8812681
28627
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12901.s1
4.1
M
Control (matched sibling)
NA
NA
10084628
10102086
17459
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case7-0197-003
No validation step reported
Maternal
SRGAP3
brandler_18_ASD_replication_cases-caseAU4444304
No validation step reported
Maternal
SRGAP3
brand_15_ASD_discovery_cases-case10
Paternal
Simplex
Unknown
CAV3,RAD18
brand_15_ASD_discovery_cases-case10
Paternal
Simplex
Unknown
CAV3,RAD18
brand_15_ASD_discovery_cases-case11
Paternal
Simplex
Unknown
CAV3,RAD18
brand_15_ASD_discovery_cases-case11
Paternal
Simplex
Unknown
CAV3,RAD18
brand_15_ASD_discovery_cases-case12
Maternal
Simplex
Unknown
CAV3,RAD18
brand_15_ASD_discovery_cases-case12
Maternal
Simplex
Unknown
CAV3,RAD18
brand_15_ASD_discovery_cases-case9
Maternal
Simplex
Unknown
CAV3,RAD18
brand_15_ASD_discovery_cases-case9
Maternal
Simplex
Unknown
CAV3,RAD18
coe_14_ASD/DD/ID_discovery_cases-case600
De novo
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
coe_14_ASD/DD/ID_discovery_cases-case601
Inherited
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
coe_14_ASD/DD/ID_discovery_cases-case602
Inherited
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
coe_14_ASD/DD/ID_discovery_cases-case603
Inherited
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
coe_14_ASD/DD/ID_discovery_cases-case604
Unknown
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
coe_14_ASD/DD/ID_discovery_cases-case605
Unknown
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
coe_14_ASD/DD/ID_discovery_cases-case606
Unknown
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
coe_14_ASD/DD/ID_discovery_cases-case607
Unknown
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
coe_14_ASD/DD/ID_discovery_cases-case608
Unknown
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
coe_14_ASD/DD/ID_discovery_cases-case609
Unknown
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
crippa_20_DD/ID_discovery_cases-case1
De novo
Simplex
Segregated
PGAM1P4,THUMPD3-AS1,THUMPD3,SRGAP3,SETD5
defalco_25_DD/ID_discovery_cases-case5
Unnamed: 15
Unnamed: 16
De novo
Unnamed: 18
Unnamed: 19
SETD5,LHFPL4,THUMPD3-AS1
Unnamed: 21
egger_14_ASD_discovery_cases-caseA116
Unknown
Unknown
ATG7
fitzgerald_14_ASD/DD/ID_discovery_cases-case000031
De novo
Unknown
Unknown
RPUSD3,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,MTMR14,ARPC4-TTLL3,TTLL3
girirajan_13a_ASD_discovery_cases-11415.p1
Unknown
Simplex
Unknown
CHCHD4P4,HRH1,ATG7
gregory_09_ASD_discovery_cases-200309436
qPCR, microsatellite
Maternal
Multiplex
Not segregated
RNU4ATAC17P,OR7E122P,OXTR,LMCD1,SSUH2,CAV3,RAD18,LMCD1-AS1
griswold_12_ASD_discovery_cases-case7804
qPCR
Paternal
Multiplex
Segregated
SLC6A11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000858
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PGAM1P4,SRGAP3-AS4,THUMPD3-AS1,THUMPD3,LHFPL4,DUSP5P2,CPNE9,SRGAP3,MTMR14,SETD5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002439
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,THUMPD3-AS1,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,MTMR14,ARPC4-TTLL3,TTLL3,SETD5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003903
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2
krumm_13_ASD_discovery_cases-case12851.p1
Maternal
Simplex
Not segregated
ARPC4-TTLL3,TTLL3
krumm_15_ASD_discovery_cases-case11415.p1
Illumina 1M
Paternal
Simplex
Segregated
ATG7
krumm_15_ASD_discovery_cases-case12851.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ARPC4-TTLL3,TTLL3
laurie_25_ASD/DD/ID_discovery_cases-caseP0015673
Unnamed: 15
Unnamed: 16
Unknown
Unknown.1
Unnamed: 19
SLC6A1
Unnamed: 21
levy_11_ASD_discovery_cases-11415.p1
Paternal
Simplex
Segregated
CHCHD4P4,HRH1,ATG7
pfundt_16_nonNDD_discovery_cases-case84
PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
pinto_14_ASD_discovery_cases2-case3616_3
qPCR
De novo
Unknown
Likely segregated (1 non-ASD brother, not tested)
SETD5
poultney_13_ASD_discovery_cases-case98HI0240A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ATG7
sanders_11_ASD_discovery_cases-11045.p1
Maternal
Simplex (quad-proband matched)
Segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-11128.p1
Paternal
Simplex (trio)
NA
CAV3,RAD18
sanders_11_ASD_discovery_cases-11262.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-11296.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-11343.p1
Paternal
Simplex (trio)
NA
SRGAP3
sanders_11_ASD_discovery_cases-11398.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-11415.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CHCHD4P4,HRH1,ATG7
sanders_11_ASD_discovery_cases-11485.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-11499.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP2B2
sanders_11_ASD_discovery_cases-11550.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CIDEC
sanders_11_ASD_discovery_cases-11604.p1
Paternal
Simplex (trio)
NA
CAV3,RAD18
sanders_11_ASD_discovery_cases-11610.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-11676.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-11909.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-11939.p1
Paternal
Simplex (quad-proband matched)
Segregated
CIDEC
sanders_11_ASD_discovery_cases-12198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IRAK2
sanders_11_ASD_discovery_cases-12335.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-12460.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-12485.p1
Paternal
Simplex (trio)
NA
CAV3,RAD18
sanders_11_ASD_discovery_cases-12575.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-12598.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-12618.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-12836.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-12955.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sanders_11_ASD_discovery_cases-13193.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAV3,RAD18
sansovic_17_DD/ID/ASD_discovery_cases-case25
Unknown
BRK1,VHL,TATDN2,IRAK2
tzetis_12_DD/ID_discovery_cases-case11
De novo
Unknown
RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,CHCHD4P4,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,SLC6A1,SLC6A1-AS1,HRH1,ATP2B2,ATG7
yin_16_ASD_discovery_cases-case96
Unknown
Unknown
Unknown
FANCD2,FANCD2OS
yin_16_ASD_discovery_cases-case97
Unknown
Unknown
Unknown
MIR378B,GHRL,GHRLOS,SEC13,ATP2B2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB778845_1007854001
Unknown
VHL,IRAK2
engchuan_15_ASD_discovery_controls-controlHABC_900152_900152
Unknown
OXTR,SSUH2,CAV3,RAD18
engchuan_15_ASD_discovery_controls-controlHABC_900517_900517
Unknown
ATG7
engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
Unknown
VHL,IRAK2
krumm_13_ASD_discovery_controls-control12851.s1
Solid phase hybridization (Illumina 1M) (not tested by aCGH)
Maternal
Simplex
ARPC4-TTLL3,TTLL3
krumm_15_ASD_discovery_controls-control12901.s1
Illumina 1MDuo
Maternal
FANCD2,FANCD2OS
sanders_11_ASD_discovery_controls-11262.s1
Maternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-11296.s1
Paternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-11348.s1
Paternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-11378.s1
Maternal
Simplex (quad)
NA
CIDEC
sanders_11_ASD_discovery_controls-11485.s1
Paternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-11499.s1
Maternal
Simplex (quad)
NA
ATP2B2
sanders_11_ASD_discovery_controls-11550.s1
Both parents
Simplex (quad)
NA
CIDEC
sanders_11_ASD_discovery_controls-11610.s1
Maternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-11667.s1
Paternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-11909.s1
Maternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12173.s1
Paternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-12335.s1
Paternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-12380.s1
Paternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-12460.s1
Maternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-12575.s1
Paternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-12618.s1
Maternal
Simplex (quad)
NA
CAV3,RAD18
sanders_11_ASD_discovery_controls-12901.s1
Maternal
Simplex (quad)
NA
FANCD2,FANCD2OS
No Animal Model Data Available