Copy Number Variants / 13q14.12

13q14.12

Case population data
Control population data
Type
Deletion
Average Length
81490
Range
45674773-45864198
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
3
Populations
9 (3 case / 6 control)
Individuals
15 (7 case / 8 control)
Summary

Summary statement in development

Reports related to 13q14.12 (3 Reports)
# Type Title Author, Year
1 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)
2 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
3 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
Show all Case Details Show all Cohort Details

13q14.12

Description:

Autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

ASD

Levy D , et al. (2011)
Cohort Size: 858

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 187142

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

-

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q14.12

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

Krumm N , et al. (2015)
Cohort Size: 2377

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 162906

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

13q14.12

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: 73
Female: 27
Unknown: -
CNV Size: 189425

Deletion: 5
Duplication: 0

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 (n=334) or Illumina 1M v3 (n=840)
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Show all Case Details Show all Cohort Details

levy_11_ASD_discovery_cases-11998.p1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 45100746
CNV End: 45287887
CNV Size: 187142
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RN7SKP4, KCTD4, GTF2F2

sanders_11_ASD_discovery_cases-11158.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39

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

Age: 10.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 45068876
CNV End: 45084799
CNV Size: 15923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11998.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111

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

Age: 5.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 45100638
CNV End: 45290063
CNV Size: 189425
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RN7SKP4, KCTD4, GTF2F2

sanders_11_ASD_discovery_cases-12424.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65

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

Age: 4.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 45068876
CNV End: 45084799
CNV Size: 15923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13226.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85

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

Age: 8.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 45068876
CNV End: 45084799
CNV Size: 15923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13233.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84

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

Age: 13.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 45068876
CNV End: 45084799
CNV Size: 15923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case11998.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

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

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 45120655
CNV End: 45283561
CNV Size: 162906
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RN7SKP4, KCTD4, GTF2F2
Show all Control Details Show all Cohort Details

13q14.12

Description:

Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

Control

Levy D , et al. (2011)
Cohort Size: 863

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 187142

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

-

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q14.12

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: 100
Female: -
Unknown: -
CNV Size: 162906

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

13q14.12

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: 73
Female: 27
Unknown: -
CNV Size: 201236

Deletion: 6
Duplication: 0

Total CNV: 6
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 or Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: -
Show all Control Details Show all Cohort Details

levy_11_ASD_discovery_controls-11998.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 45100746
CNV End: 45287887
CNV Size: 187142
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RN7SKP4, KCTD4, GTF2F2

sanders_11_ASD_discovery_controls-11158.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 45074734
CNV End: 45084799
CNV Size: 10065
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11998.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 6.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 45100638
CNV End: 45301874
CNV Size: 201236
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RN7SKP4, KCTD4, GTF2F2

sanders_11_ASD_discovery_controls-12424.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 6.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 45068876
CNV End: 45084799
CNV Size: 15923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12972.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 7.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 45074734
CNV End: 45084799
CNV Size: 10065
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-13195.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 10.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 45068876
CNV End: 45084799
CNV Size: 15923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-13233.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 10.5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 45068876
CNV End: 45084799
CNV Size: 15923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_controls-control11998.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: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 45120655
CNV End: 45283561
CNV Size: 162906
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP4, KCTD4, GTF2F2
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