3p24.1CNV Type: Deletion-Duplication
Largest CNV size: 75648 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
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
1075
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
260736
4
0
4
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
43514
3
1
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
16578
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
71983
0
1
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
47659
1
0
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
140095
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
75648
21
5
26
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
268993
4
2
6
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_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
16578
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
71983
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
50627
16
2
18
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
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
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
brandler_18_ASD_discovery_cases-caseSSC06174
N/A
M
ASD
Case from SSC cohort
27124701
27125776
1076
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13100_1173
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28972413
29233149
260737
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5553_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
26940901
26996849
55949
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8488_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28917720
28959466
41747
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8612_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28924265
28972413
48149
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003881
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30623003
30656356
33354
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004648
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30623003
30666517
43515
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004839
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30638613
30656356
17744
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004980
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30628928
30656356
27429
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11615.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
28324041
28340619
16579
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11615.p1
NA
M
ASD
NA
NA
28324631
28396613
71983
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case13008.p1
NA
M
ASD/Autism
Case also identified with de novo KALRN synonymous mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 50
28426584
28474243
47660
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-419
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
28418874
28558968
140095
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
28359963
28418874
58912
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11071.p1
13.9
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11179.p1
13.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
26390855
26397980
7126
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
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
26390855
26404443
13589
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
28769838
28773426
3589
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11330.p1
10.5
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
26390855
26404443
13589
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11365.p1
14.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11368.p1
5.9
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11410.p1
6.6
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11474.p1
14.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11476.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
26383758
26397980
14223
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11509.p1
16.8
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
26390855
26397980
7126
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
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11552.p1
9.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11583.p1
13
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
28732558
28732767
210
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11615.p1
12.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
28326465
28396329
69865
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11657.p1
4.9
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
30226266
30301914
75649
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12345.p1
11.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
28914263
28959466
45204
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12523.p1
6.1
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
26769044
26799110
30067
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12539.p1
7.9
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
28769838
28773426
3589
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12591.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
29908678
29915452
6775
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-controlB293266_1007852886
N/A
N/A
Control
No previous psychiatric history
30770097
30931522
161426
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB381252_1007852903
N/A
N/A
Control
No previous psychiatric history
27215535
27253342
37808
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
N/A
N/A
Control
No previous psychiatric history
28894618
29163611
268994
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900736_900736
N/A
N/A
Control
No previous psychiatric history
28917720
28964841
47122
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900938_900938
N/A
N/A
Control
No previous psychiatric history
28924265
28959466
35202
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902808_902808
N/A
N/A
Control
No previous psychiatric history
27448703
27563239
114537
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11615.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
28324041
28340619
16579
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11615.s1
NA
F
Control
NA
NA
28324631
28396613
71983
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11014.s1
5
M
Control (matched sibling)
NA
NA
29651125
29658734
7610
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11043.s1
11.5
M
Control (matched sibling)
NA
NA
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11094.s1
12.2
M
Control (matched sibling)
NA
NA
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11115.s1
15.8
F
Control (matched sibling)
NA
NA
26390855
26404443
13589
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11199.s1
13.6
M
Control (matched sibling)
NA
NA
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11224.s1
7.1
F
Control (matched sibling)
NA
NA
28769838
28773426
3589
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
28732558
28732767
210
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
26390855
26404443
13589
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11410.s1
11.3
F
Control (matched sibling)
NA
NA
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11450.s1
12.5
F
Control (matched sibling)
NA
NA
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11552.s1
6
F
Control (matched sibling)
NA
NA
26390855
26397980
7126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
29908678
29913199
4522
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12345.s1
12.9
F
Control (matched sibling)
NA
NA
28914263
28964890
50628
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12592.s1
10.1
F
Control (matched sibling)
NA
NA
26390855
26425731
34877
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
28769838
28773426
3589
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-caseSSC06174
SNP VCF
De novo
NEK10
engchuan_15_ASD_discovery_cases-case13100_1173
Unknown
MESTP4,RBMS3
engchuan_15_ASD_discovery_cases-case5553_3
Unknown
engchuan_15_ASD_discovery_cases-case8488_202
Unknown
RBMS3
engchuan_15_ASD_discovery_cases-case8612_201
Unknown
RBMS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003881
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TGFBR2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004648
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TGFBR2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004839
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TGFBR2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004980
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TGFBR2
krumm_15_ASD_discovery_cases-case11615.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
AZI2,CMC1
levy_11_ASD_discovery_cases-11615.p1
Maternal
Simplex
Not segregated
AZI2,ZCWPW2,CMC1
o'roak_12_ASD_discovery_cases-case13008.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
FAM96AP1,ZCWPW2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-419
qPCR
Paternal
Unknown
Unknown
FAM96AP1,ZCWPW2
sanders_11_ASD_discovery_cases-11045.p1
Paternal
Simplex (quad-proband matched)
Segregated
ZCWPW2
sanders_11_ASD_discovery_cases-11071.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11115.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11179.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11199.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11200.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11224.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RBMS3
sanders_11_ASD_discovery_cases-11246.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11247.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11330.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11365.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11368.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11410.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11474.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11476.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11509.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11536.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11552.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11556.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11583.p1
Unknown
Simplex (trio)
NA
RBMS3
sanders_11_ASD_discovery_cases-11615.p1
Maternal
Simplex (quad-proband matched)
Segregated
AZI2,ZCWPW2
sanders_11_ASD_discovery_cases-11657.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12345.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RBMS3
sanders_11_ASD_discovery_cases-12523.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12539.p1
Maternal
Simplex (trio)
NA
RBMS3
sanders_11_ASD_discovery_cases-12591.p1
Unknown
Simplex (trio)
NA
RBMS3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB293266_1007852886
Unknown
GADL1
engchuan_15_ASD_discovery_controls-controlB381252_1007852903
Unknown
NEK10
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
Unknown
MESTP4,RBMS3
engchuan_15_ASD_discovery_controls-controlHABC_900736_900736
Unknown
RBMS3
engchuan_15_ASD_discovery_controls-controlHABC_900938_900938
Unknown
RBMS3
engchuan_15_ASD_discovery_controls-controlHABC_902808_902808
Unknown
RPS20P15,RNU1-96P,SLC4A7
krumm_15_ASD_discovery_controls-control11615.s1
Illumina 1MDuo
Maternal
AZI2,CMC1
levy_11_ASD_discovery_controls-11615.s1
Maternal
Simplex
NA
AZI2,ZCWPW2,CMC1
sanders_11_ASD_discovery_controls-11014.s1
Maternal
Simplex (quad)
NA
RBMS3
sanders_11_ASD_discovery_controls-11043.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11094.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11115.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11199.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11224.s1
Maternal
Simplex (quad)
NA
RBMS3
sanders_11_ASD_discovery_controls-11235.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11254.s1
Paternal
Simplex (quad)
NA
RBMS3
sanders_11_ASD_discovery_controls-11318.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11330.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11410.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11450.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11469.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11552.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12041.s1
Paternal
Simplex (quad)
NA
RBMS3
sanders_11_ASD_discovery_controls-12345.s1
Maternal
Simplex (quad)
NA
RBMS3
sanders_11_ASD_discovery_controls-12592.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12650.s1
Paternal
Simplex (quad)
NA
RBMS3
No Animal Model Data Available