8q23.1CNV Type: Deletion-Duplication
Largest CNV size: 48444 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
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-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
6167
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
241630
0
2
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2750005
2
1
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
112430
0
1
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
48444
29
1
30
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
116316
0
1
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
241630
0
2
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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)
112430
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.
61477
19
2
21
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
116316
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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_discovery_cases-caseSSC09284
N/A
M
ASD
Case from SSC_phase1 cohort
105794545
105800712
6168
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14156_2550
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
107212459
107454089
241631
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3571_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
107451375
107487655
36281
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000802
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
106784262
107356237
571976
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000986
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
105053530
107803535
2750006
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004483
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
105449064
105643160
194097
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100149
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
110135976
110248405
112430
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
106677067
106683420
6354
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11059.p1
6.6
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
105311508
105359952
48445
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11329.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11421.p1
7.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11571.p1
9.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11581.p1
5.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
107169994
107192612
22619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11681.p1
5.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
108486427
108514499
28073
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11773.p1
13.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11893.p1
8.3
F
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11940.p1
8.3
F
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12194.p1
5.7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
106579484
106605132
25649
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12223.p1
8.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 104; verbal IQ, 80
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12331.p1
12.3
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12552.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
107143504
107147515
4012
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12831.p1
4.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 94; verbal IQ, 64
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12869.p1
5.2
F
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12930.p1
12.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13171.p1
7.9
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13187.p1
9.5
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 83; verbal IQ, 86
106076198
106078272
2075
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case2-1175-003
N/A
M
ASD
N/A
N/A
109051931
109168246
116316
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-controlB138586_1007853956
N/A
N/A
Control
No previous psychiatric history
107212459
107454089
241631
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902654_902654
N/A
N/A
Control
No previous psychiatric history
108460181
108550868
90688
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11152.s1
8.8
F
Control (matched sibling)
NA
NA
106527513
106534272
6760
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11329.s1
6.9
M
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11421.s1
8.7
F
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11644.s1
14.2
F
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
106076368
106078272
1905
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11773.s1
14.3
M
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11940.s1
6.5
M
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11947.s1
14.5
M
Control (matched sibling)
NA
NA
108805157
108866634
61478
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12223.s1
10.9
F
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12228.s1
8.8
F
Control (matched sibling)
NA
NA
106074191
106078272
4082
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12247.s1
6.3
F
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
106847912
106849769
1858
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13171.s1
11.3
F
Control (matched sibling)
NA
NA
106076198
106078272
2075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
106847912
106849769
1858
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC09284
PCR or SNP data validation
Paternal
ZFPM2,ZFPM2-AS1
engchuan_15_ASD_discovery_cases-case14156_2550
Unknown
ANGPT1
engchuan_15_ASD_discovery_cases-case3571_4
Unknown
ANGPT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000802
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMGB1P46,ANGPT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000986
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TMCC1P1,RPL12P24,SLC16A14P1,TAGLN2P1,RNU7-84P,ABRA,HMGB1P46,PGAM1P13,OXR1,ANGPT1,ZFPM2,ZFPM2-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004483
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZFPM2,ZFPM2-AS1
prasad_12_ASD_discovery_cases-case100149
Unknown
Unknown
Unknown
TRHR
sanders_11_ASD_discovery_cases-11001.p1
Maternal
Simplex (trio)
NA
OXR1
sanders_11_ASD_discovery_cases-11059.p1
Unknown
Simplex (quad-proband matched)
Segregated
ZFPM2
sanders_11_ASD_discovery_cases-11131.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11227.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11276.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11329.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11421.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11505.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11571.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HMGB1P46
sanders_11_ASD_discovery_cases-11681.p1
Paternal
Simplex (trio)
NA
EMC2
sanders_11_ASD_discovery_cases-11773.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11893.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11940.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12044.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12194.p1
Paternal
Simplex (trio)
NA
OXR1
sanders_11_ASD_discovery_cases-12221.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12223.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12260.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12331.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12552.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12661.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12701.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12831.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12869.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12930.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12964.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13171.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13187.p1
Paternal
Simplex (quad-proband matched)
Not segregated
walker_13_ASD_discovery_cases-case2-1175-003
Unknown
Simplex
Unknown
TRHR
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB138586_1007853956
Unknown
ANGPT1
engchuan_15_ASD_discovery_controls-controlHABC_902654_902654
Unknown
EMC2
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11152.s1
Maternal
Simplex (quad)
NA
OXR1
sanders_11_ASD_discovery_controls-11227.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11329.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11421.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11644.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11666.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11773.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11940.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11947.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12041.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12223.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12228.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12231.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12247.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12552.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12661.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13171.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available