13q21.2CNV Type: Deletion-Duplication
Largest CNV size: 611940 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
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
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
262408
1
0
1
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
1090000
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
53768
2
0
2
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
258138
4
1
5
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
51608
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
16886
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
519315
1
0
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
228000
1
0
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
41555
2
0
2
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
133756
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
611940
14
2
16
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
128970
1
2
3
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
2
0
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
281159
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
599837
7
1
8
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
girirajan_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
aCGH (NimbleGen 135K array)
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
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chaves_19_ASD/DD/ID_discovery_cases-case86
N/A
F
Developmental delay
Developmental delay and learning difficulties
Learning difficulties
59851501
60113908
262408
GRCh38
Deletion
No
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4324
N/A
M
Autistic features
Mild autistic features
59402609
60495257
1092649
GRCh38
Duplication
Yes
cucinotta_23_ASD_discovery_cases-case138
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
59973789
60015345
41557
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case139
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
59961578
60015345
53768
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13017_223
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
58135777
58189525
53749
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14096_1660
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59229665
59286893
57229
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14310_4270
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59852121
60110259
258139
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14339_4530
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59852121
60110259
258139
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3049_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
58389683
58498275
108593
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000006
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S9
N/A
59728820
59780428
51609
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12628.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
60100760
60117646
16887
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
59774180
60293495
519316
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseDX94
NA
F
Epilepsy
Phenotype: s-CSWSS . Seizure Characteristics: Nocturnal, absences. Autistic features: No. ADHD features: No. Other features: Right frontal PMG.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 76, performance IQ 51 (at 11 years of age).
59845469
60073387
227919
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case7.1
N/A
N/A
Autism
No additional clinical information available
59973790
60015345
41556
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case7.2
N/A
N/A
Autism
No additional clinical information available
59973790
60015345
41556
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-301
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
60416372
60550127
133756
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
59609913
59623595
13683
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
60636327
60650384
14058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11322.p1
4.2
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
60690560
60692241
1682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11488.p1
11
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 80
58800694
58803679
2986
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11542.p1
12.5
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
60835671
60885510
49840
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
59609913
59623595
13683
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12201.p1
13.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
58654155
58660163
6009
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12220.p1
14.4
F
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
59600203
59623595
23393
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12225.p1
15.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
59609913
59623595
13683
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
59609913
59623595
13683
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12445.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
58798304
58802961
4658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12628.p1
11.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
60101919
60124329
22411
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
59609913
59623595
13683
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
58702012
59313952
611941
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13166.p1
9.1
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
59609913
59623595
13683
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
59609913
59623595
13683
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-controlB732969_0067942655
N/A
N/A
Control
No previous psychiatric history
58349239
58478209
128971
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900416_900416
N/A
N/A
Control
No previous psychiatric history
58389683
58498960
109278
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902573_902573
N/A
N/A
Control
No previous psychiatric history
58394452
58498960
104509
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_controls2-control20
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control21
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
nord_11_ASD_discovery_controls-04C27090
Control
57660847
57942005
281159
Unknown
Deletion
sanders_11_ASD_discovery_controls-11488.s1
7.7
M
Control (matched sibling)
NA
NA
58800694
58802961
2268
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
58800694
58802961
2268
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
59600203
59623595
23393
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
59600203
59623595
23393
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
58800694
58802961
2268
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
59609913
59623595
13683
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
58702012
59301849
599838
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
59609913
59623595
13683
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_19_ASD/DD/ID_discovery_cases-case86
Unknown
RN7SL375P,DIAPH3-AS1,DIAPH3
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4324
Nimblegen aCGH
Unknown
Unknown
Unknown
RNU7-88P,RN7SL375P,RNY4P28,LINC00434,TARDBPP2,DIAPH3-AS2,DIAPH3-AS1,TDRD3,DIAPH3
cucinotta_23_ASD_discovery_cases-case138
Maternal
DIAPH3,DIAPH3-AS1
cucinotta_23_ASD_discovery_cases-case139
Maternal
DIAPH3,DIAPH3-AS1
engchuan_15_ASD_discovery_cases-case13017_223
Unknown
LINC02338
engchuan_15_ASD_discovery_cases-case14096_1660
Unknown
RPP40P2
engchuan_15_ASD_discovery_cases-case14310_4270
Unknown
RN7SL375P,DIAPH3-AS1,DIAPH3
engchuan_15_ASD_discovery_cases-case14339_4530
Unknown
RN7SL375P,DIAPH3-AS1,DIAPH3
engchuan_15_ASD_discovery_cases-case3049_3
Unknown
fitzgerald_14_ASD/DD/ID_discovery_cases-case000006
De novo
Unknown
Unknown
DIAPH3
girirajan_13a_ASD_discovery_cases-12628.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DIAPH3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL375P,RNY4P28,LINC00434,TARDBPP2,DIAPH3-AS2,DIAPH3-AS1,DIAPH3
lesca_12_EP_discovery_cases-caseDX94
qPCR
Unknown
Unknown
Unknown
RN7SL375P,DIAPH3-AS1,DIAPH3
lintas_17_ASD_discovery_cases-case7.1
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all both affected siblings)
DIAPH3-AS1,DIAPH3
lintas_17_ASD_discovery_cases-case7.2
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all both affected siblings)
DIAPH3-AS1,DIAPH3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-301
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
TDRD3
sanders_11_ASD_discovery_cases-11158.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11158.p1
Paternal
Simplex (quad-proband matched)
Segregated
EIF4A1P6
sanders_11_ASD_discovery_cases-11322.p1
Paternal
Simplex (trio)
NA
LINC00378
sanders_11_ASD_discovery_cases-11488.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11542.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11818.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12201.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12220.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12225.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12287.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12445.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12628.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DIAPH3
sanders_11_ASD_discovery_cases-13076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DNAJA1P1,HMGN2P39,POLR3KP1,RPP40P2
sanders_11_ASD_discovery_cases-13166.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13233.p1
Unknown
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB732969_0067942655
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900416_900416
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902573_902573
Unknown
girirajan_13a_ASD_discovery_controls2-control20
Unknown
DIAPH3
girirajan_13a_ASD_discovery_controls2-control21
Unknown
DIAPH3
nord_11_ASD_discovery_controls-04C27090
0 genes
sanders_11_ASD_discovery_controls-11488.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11962.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12052.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12220.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12867.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
DNAJA1P1,HMGN2P39,POLR3KP1,RPP40P2
sanders_11_ASD_discovery_controls-13183.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available