8q12.2CNV Type: Deletion
Largest CNV size: 14808 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
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
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
8256
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
14808
11
0
11
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
68559
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.
14406
7
0
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264056
N/A
F
Intellectual disability
Intellectual disability; Membranous subvalvular aortic stenosis; Cleft palate; Patent ductus arteriosus; Pierre-Robin sequence
60734933
60743189
8257
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
60942282
60957090
14809
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
60945654
60957888
12235
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
60945654
60957090
11437
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
60943482
60957090
13609
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
60949787
60951523
1737
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11544.p1
15.5
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
60945654
60957090
11437
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11812.p1
8.4
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
60943482
60957090
13609
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11998.p1
5.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111
60945654
60957090
11437
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
60945654
60957090
11437
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12366.p1
4
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
60945654
60954152
8499
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12784.p1
4.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
60945654
60957090
11437
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-controlHABC_900999_900999
N/A
N/A
Control
No previous psychiatric history
60945654
61014213
68560
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
60945654
60957888
12235
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
60943482
60957888
14407
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11303.s1
4.5
M
Control (matched sibling)
NA
NA
60943482
60957090
13609
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11998.s1
6.8
M
Control (matched sibling)
NA
NA
60948037
60954152
6116
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12100.s1
13.8
F
Control (matched sibling)
NA
NA
60945654
60957090
11437
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12381.s1
7.5
F
Control (matched sibling)
NA
NA
60945654
60957090
11437
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12784.s1
8.4
M
Control (matched sibling)
NA
NA
60943482
60954152
10671
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264056
De novo
Simplex
Segregated
CHD7
sanders_11_ASD_discovery_cases-11121.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11141.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11172.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11227.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11466.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11544.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11812.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11998.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12350.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12366.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12784.p1
Maternal
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-controlHABC_900999_900999
Unknown
sanders_11_ASD_discovery_controls-11172.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11227.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11303.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11998.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12100.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12381.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12784.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available