Copy Number Variants / 13q12.13

13q12.13

Case population data
Control population data
Type
Deletion
Average Length
40345
Range
25812040-25834107
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
6
Populations
12 (6 case / 6 control)
Individuals
13 (9 case / 4 control)
Summary

Summary statement in development

Reports related to 13q12.13 (6 Reports)
# Type Title Author, Year
1 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
2 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
3 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
4 Minor Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Iourov IY , et al. (2013)
5 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
6 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
Show all Case Details Show all Cohort Details

13q12.13

Description:

Replication case samples derived from AGRE sets 1-3

Diagnosis:

Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

Gai X , et al. (2011)
Cohort Size: 593

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 21191

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.13

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS

Prasad A , et al. (2013)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 9767

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.13

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

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)

Sanders SJ , et al. (2011)
Cohort Size: 1124

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 22067

Deletion: 4
Duplication: 0

Total CNV: 4
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.13

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 53290

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.13

Description:

Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012

Diagnosis:

Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies

Iourov IY , et al. (2013)
Cohort Size: 54

Age Min: 58
Age Max: 58
Average: 58

Male: -
Female: 100
Unknown: -
CNV Size: 3993

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.13

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 324300

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

gai_11_ASD_replication_cases-AU0914301

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 25144328
CNV End: 25165518
CNV Size: 21191
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-11168.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 25490891
CNV End: 25494950
CNV Size: 4059
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11919.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 25640798
CNV End: 25649198
CNV Size: 8400
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12670.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 25647538
CNV End: 25661802
CNV Size: 14264
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13045.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 25812040
CNV End: 25834107
CNV Size: 22067
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

prasad_12_ASD_discovery_cases-case59800L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 25695049
CNV End: 25704815
CNV Size: 9767
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: -
Gene Content: -

iourov_12_ASD/ID/EP_discovery_cases-case49

Clinical Profile:

Facial dysmorphisms, clinodactyly, dentinogenesis imperfecta, enteroparesis. Karyotype: 9phqh, 17ps.

Cognitive Profile:

Developmental delay/intellectual disability

Iourov IY , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 4 yrs. 10 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 24807453
CNV End: 24811446
CNV Size: 3993
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: -

engchuan_15_ASD_discovery_cases-case14164_2680

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 24431831
CNV End: 24485121
CNV Size: 53290
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004343

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 25146721
CNV End: 25471021
CNV Size: 324300
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -
Show all Control Details Show all Cohort Details

13q12.13

Description:

Unaffected siblings from quad families from the Simons Simplex Collection

Diagnosis:

Control

Krumm N , et al. (2015)
Cohort Size: 1786

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 47776

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.13

Description:

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.

Diagnosis:

Control

Prasad A , et al. (2013)
Cohort Size: 5139

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 9767

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.13

Description:

Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

Diagnosis:

Controls

Sanders SJ , et al. (2011)
Cohort Size: 872

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 8400

Deletion: 3
Duplication: 0

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.13

Description:

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)

Diagnosis:

Controls; subjects had no previous psychiatric history

Engchuan W , et al. (2015)
Cohort Size: 2342

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.13

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: NA

Deletion: NA
Duplication: NA

Total CNV: NA
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Control Details Show all Cohort Details

sanders_11_ASD_discovery_controls-11178.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 26655905
CNV End: 26661223
CNV Size: 5318
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11329.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 24577445
CNV End: 24579106
CNV Size: 1661
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11919.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 25640798
CNV End: 25649198
CNV Size: 8400
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

krumm_15_ASD_discovery_controls-control13792.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 26911703
CNV End: 26959479
CNV Size: 47776
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: CDK8, Intron (2/12), Exon (3/13), Intron (3/12), Exon (4/13), Intron (4/12), Exon (5/13), Intron (5/12)
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