5q31.3CNV Type: Deletion-Duplication
Largest CNV size: 43136 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
40028
2
0
2
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
11145
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
384141
2
0
2
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
2038
1
0
1
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
29878
4
2
6
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
218400
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
32575
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
43136
47
3
50
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
13485
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
102429
3
3
6
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
NA
NA
NA
NA
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
1328
1
0
1
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
16890
0
2
2
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)
14183
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
29878
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.
22096
39
1
40
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
15750
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
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
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
engchuan_15_ASD_discovery_cases-case4206_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140829267
140864750
35484
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4456_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140824137
140864165
40029
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient3
4 yrs.
M
ASD
Neurodevelopmental abnormalities: autism. Urological abnormalities: none reported. Other features: no dysmorphic features. Growth parameters: height 75th %ile, weight 75th %ile.
140831031
140842176
11146
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004345
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
141185055
141211630
26576
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005256
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
141757107
142141250
384144
GRCh38
Deletion
Yes
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
140846323
140866702
20380
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case47387
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
140518532
140548409
29878
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case55449
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
139457649
139468386
10738
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60811
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
140544614
140553652
9039
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case66559
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
140662364
140682157
19794
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case74431
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
141951022
141959242
8221
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82503
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
140562480
140569754
7275
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_99
17 yrs.
M
Intellectual disability
Neurofibromatosis, cerebellar hypoplasia
Intellectual disability
142766977
142985376
218400
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
140798457
140831031
32575
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11008.p1
15.3
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11060.p1
6.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11089.p1
5.8
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 39
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11121.p1
10.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11199.p1
10.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 94; verbal IQ, 81
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11207.p1
14.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 91; verbal IQ, 70
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11224.p1
8.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
140717487
140724302
6816
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
142640815
142683951
43137
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11232.p1
8.7
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
141390940
141398689
7750
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11283.p1
12
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
142992115
143015385
23271
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11297.p1
12.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11303.p1
5.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 110; verbal IQ, 102
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
140717487
140722027
4541
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11348.p1
7.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 64
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11376.p1
7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11490.p1
11.4
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 101; verbal IQ, 57
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11502.p1
16.1
F
Autism
NA
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
140717487
140731262
13776
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11519.p1
6.7
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 84; verbal IQ, 23
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11536.p1
5.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11564.p1
10.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
140717487
140724302
6816
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11629.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11653.p1
4.5
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
140717487
140722027
4541
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11660.p1
5
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11664.p1
7.3
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
141341879
141343607
1729
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11720.p1
8
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11797.p1
15.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 116
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
142638295
142641812
3518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
140836969
140847633
10665
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
139648178
139655729
7552
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
140836969
140841349
4381
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12114.p1
16.7
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
141190626
141192583
1958
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12441.p1
13.7
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12510.p1
7.3
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
142579266
142598678
19413
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
141341879
141343607
1729
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12736.p1
4.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
140717487
140722027
4541
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12809.p1
5.6
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12867.p1
16.7
F
ASD
NA
Full-scale IQ, 60; non-verbal IQ, 63; verbal IQ, 57
141351790
141360307
8518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12960.p1
6.6
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12979.p1
4.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13010.p1
7.9
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
140836969
140841349
4381
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
140836969
140841349
4381
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
140843471
140856955
13485
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036015642_
N/A
N/A
Control
No previous psychiatric history
140846323
140948752
102430
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB598149_1007874481
N/A
N/A
Control
No previous psychiatric history
141103287
141150953
47667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB748118_1007874904
N/A
N/A
Control
No previous psychiatric history
141124728
141158579
33852
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB771911_1007854300
N/A
N/A
Control
No previous psychiatric history
141242380
141288810
46431
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB944909_1007844028
N/A
N/A
Control
No previous psychiatric history
141242380
141284098
41719
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902613_902613
N/A
N/A
Control
No previous psychiatric history
142000783
142073726
72944
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12390.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12390. SRS score of 36.
141933258
141934586
1329
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_controls-siblingPN400512
N/A
F
Control
Unaffected sibling of an ASD case
140841667
140858551
16885
GRCh38
Duplication
No
leblond_19_ASD_discovery_controls-siblingPN400517
N/A
F
Control
Unaffected sibling of an ASD case
140842082
140858551
16470
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39104A
N/A
M
Control
NIMH Control (NIMH ID 78120)
141924579
141938761
14183
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11117.s1
7.1
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11154.s1
9.9
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11179.s1
14.6
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11187.s1
11.1
F
Control (matched sibling)
NA
NA
140717487
140731262
13776
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11190.s1
6.8
F
Control (matched sibling)
NA
NA
140927699
140935840
8142
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11199.s1
13.6
M
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11207.s1
17.9
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11224.s1
7.1
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11301.s1
7.2
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11348.s1
9.2
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11401.s1
12.2
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11410.s1
11.3
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11413.s1
13.5
M
Control (matched sibling)
NA
NA
140835410
140848414
13005
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11463.s1
12.7
F
Control (matched sibling)
NA
NA
140702206
140724302
22097
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11471.s1
7.8
F
Control (matched sibling)
NA
NA
140927699
140935840
8142
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11499.s1
12.9
M
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11615.s1
10.7
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11765.s1
7.8
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
139935407
139956363
20957
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
140717487
140722027
4541
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
142638295
142641812
3518
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
140836969
140841349
4381
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12303.s1
5.8
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12415.s1
16.2
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12510.s1
4.1
M
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12536.s1
4.9
F
Control (matched sibling)
NA
NA
140711695
140724302
12608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12597.s1
5.3
F
Control (matched sibling)
NA
NA
141211194
141223676
12483
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12624.s1
4.1
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12664.s1
7.9
M
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12671.s1
17.4
F
Control (matched sibling)
NA
NA
140717487
140724302
6816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
141352700
141360307
7608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13010.s1
5.8
M
Control (matched sibling)
NA
NA
140836969
140841349
4381
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
140711695
140724302
12608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
142638295
142641812
3518
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family20_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
141415520
141431269
15750
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case4206_1
Unknown
PCDHA14,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10
engchuan_15_ASD_discovery_cases-case4456_1
Unknown
PCDHA14,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10
handrigan_13_ASD/DD/ID_discovery_cases-patient3
Unknown
Unknown
Unknown
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004345
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PCDHB16,PCDHB9,PCDHB10,PCDHB11,PCDHB12
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005256
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PCDH1,DELE1,RNF14,GNPDA1,NDFIP1,PCDH12
leblond_12_ASD_replication_cases-Pintocase6319_3
Paternal
PCDHA14,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10
prasad_12_ASD_discovery_cases-case47387
Unknown
Unknown
Unknown
PCDHB9,PCDHB8,PCDHB7,PCDHB16
prasad_12_ASD_discovery_cases-case55449
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60811
Unknown
Unknown
Unknown
PCDHB9,PCDHB10,PCDHB16
prasad_12_ASD_discovery_cases-case66559
qPCR
Unknown
Unknown
Unknown
TAF7,SLC25A2
prasad_12_ASD_discovery_cases-case74431
Unknown
Unknown
Unknown
FGF1
prasad_12_ASD_discovery_cases-case82503
Unknown
Unknown
Unknown
PCDHB12,PCDHB11
quintela_17_DD/ID_discovery_cases-caseID_99
Unknown
Unknown
ARHGAP26,ARHGAP26-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6
sanders_11_ASD_discovery_cases-11008.p1
Unknown
Simplex (quad-proband matched)
Segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11060.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
VTRNA1-2
sanders_11_ASD_discovery_cases-11080.p1
Both parents
Simplex (trio)
NA
VTRNA1-2
sanders_11_ASD_discovery_cases-11089.p1
Unknown
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11121.p1
Paternal
Simplex (quad-proband matched)
Segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11199.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11207.p1
Both parents
Simplex (quad-proband matched)
Segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11224.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPRY4-AS1,FGF1
sanders_11_ASD_discovery_cases-11232.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5
sanders_11_ASD_discovery_cases-11283.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
ARHGAP26
sanders_11_ASD_discovery_cases-11297.p1
Maternal
Simplex (trio)
NA
VTRNA1-2
sanders_11_ASD_discovery_cases-11301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11303.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11336.p1
Both parents
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11348.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11376.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11440.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11490.p1
Unknown
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11497.p1
Unknown
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11502.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2,VTRNA1-3
sanders_11_ASD_discovery_cases-11519.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11536.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11564.p1
Both parents
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11629.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11653.p1
Unknown
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11660.p1
Maternal
Simplex (trio)
NA
VTRNA1-2
sanders_11_ASD_discovery_cases-11664.p1
Maternal
Simplex (trio)
NA
VTRNA1-2
sanders_11_ASD_discovery_cases-11710.p1
Maternal
Simplex (trio)
NA
PCDHGA1,PCDHGA2
sanders_11_ASD_discovery_cases-11720.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11797.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-11843.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SPRY4-AS1,FGF1
sanders_11_ASD_discovery_cases-11905.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9
sanders_11_ASD_discovery_cases-12019.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
CXXC5-AS1,CXXC5
sanders_11_ASD_discovery_cases-12102.p1
Paternal
Simplex (trio)
NA
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8
sanders_11_ASD_discovery_cases-12114.p1
Maternal
Simplex (trio)
NA
VTRNA1-2
sanders_11_ASD_discovery_cases-12144.p1
Unknown
Simplex (trio)
NA
VTRNA1-2
sanders_11_ASD_discovery_cases-12227.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-12363.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDHB9,PCDHB10
sanders_11_ASD_discovery_cases-12441.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-12510.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-12607.p1
Paternal
Simplex (trio)
NA
SPRY4-AS1,FGF1
sanders_11_ASD_discovery_cases-12701.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDHGA1,PCDHGA2
sanders_11_ASD_discovery_cases-12736.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VTRNA1-2
sanders_11_ASD_discovery_cases-12809.p1
Maternal
Simplex (trio)
NA
VTRNA1-2
sanders_11_ASD_discovery_cases-12867.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2
sanders_11_ASD_discovery_cases-12960.p1
Paternal
Simplex (trio)
NA
VTRNA1-2
sanders_11_ASD_discovery_cases-12979.p1
Paternal
Simplex (trio)
NA
VTRNA1-2
sanders_11_ASD_discovery_cases-13010.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8
sanders_11_ASD_discovery_cases-13183.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015642_
Unknown
PCDHA14,PCDHAC1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA11,PCDHA12,PCDHA13
engchuan_15_ASD_discovery_controls-controlB598149_1007874481
Unknown
PCDHB3,PCDHB4,PCDHB5,PCDHB6
engchuan_15_ASD_discovery_controls-controlB748118_1007874904
Unknown
PCDHB4,PCDHB5,PCDHB6,PCDHB17P
engchuan_15_ASD_discovery_controls-controlB771911_1007854300
Unknown
PCDHB19P,PCDHB15,TAF7
engchuan_15_ASD_discovery_controls-controlB944909_1007844028
Unknown
PCDHB19P,PCDHB15,TAF7
engchuan_15_ASD_discovery_controls-controlHABC_902613_902613
Unknown
GNPDA1
krumm_13_ASD_discovery_controls-control12390.s1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
DELE1
leblond_19_ASD_discovery_controls-siblingPN400512
Unknown
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10
leblond_19_ASD_discovery_controls-siblingPN400517
Unknown
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10
poultney_13_ASD_discovery_controls-control05C39104A
Unknown
DELE1
sanders_11_ASD_discovery_controls-11117.s1
Unknown
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11154.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11179.s1
Maternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11187.s1
Unknown
Simplex (quad)
NA
VTRNA1-2,VTRNA1-3
sanders_11_ASD_discovery_controls-11190.s1
Maternal
Simplex (quad)
NA
PCDHAC1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA11,PCDHA12,PCDHA13
sanders_11_ASD_discovery_controls-11199.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11207.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11224.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11301.s1
Maternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11336.s1
Both parents
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11348.s1
Maternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11399.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11401.s1
Maternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11410.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11413.s1
Paternal
Simplex (quad)
NA
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9
sanders_11_ASD_discovery_controls-11463.s1
Paternal
Simplex (quad)
NA
VTRNA1-1,VTRNA1-2,ZMAT2
sanders_11_ASD_discovery_controls-11471.s1
Maternal
Simplex (quad)
NA
PCDHAC1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA11,PCDHA12,PCDHA13
sanders_11_ASD_discovery_controls-11499.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11564.s1
Both parents
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11569.s1
Maternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11578.s1
Maternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11615.s1
Maternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11765.s1
Unknown
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11766.s1
Paternal
Simplex (quad)
NA
NRG2
sanders_11_ASD_discovery_controls-11797.s1
Unknown
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-11843.s1
Paternal
Simplex (quad)
NA
SPRY4-AS1,FGF1
sanders_11_ASD_discovery_controls-11860.s1
Paternal
Simplex (quad)
NA
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8
sanders_11_ASD_discovery_controls-12227.s1
Maternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-12303.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-12415.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-12510.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-12536.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-12597.s1
Paternal
Simplex (quad)
NA
PCDHB12,PCDHB13,PCDHB14
sanders_11_ASD_discovery_controls-12624.s1
Paternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-12664.s1
Unknown
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-12671.s1
Maternal
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-12867.s1
Maternal
Simplex (quad)
NA
PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2
sanders_11_ASD_discovery_controls-13010.s1
Maternal
Simplex (quad)
NA
PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8
sanders_11_ASD_discovery_controls-13136.s1
Unknown
Simplex (quad)
NA
VTRNA1-2
sanders_11_ASD_discovery_controls-13296.s1
Paternal
Simplex (quad)
NA
SPRY4-AS1,FGF1
stamouli_18_ASD/NDD_discovery_controls-family20_Twin_1
Unknown
N/A (both twins typically developing)
PCDHGA12,PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGB8P
No Animal Model Data Available