Copy Number Variants / 13q33.3

13q33.3

Case population data
Control population data
Type
Deletion-Duplication
Average Length
40789
Range
108002249-108192120
Associated Human Genes
MYO16
Associated Animal Models
-
Autism Reports
1
Populations
7 (1 case / 6 control)
Individuals
11 (6 case / 5 control)
Summary

Summary statement in development

Reports related to 13q33.3 (1 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)
Show all Case Details Show all Cohort Details

13q33.3

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: 75
Female: 25
Unknown: -
CNV Size: 189871

Deletion: 5
Duplication: 1

Total CNV: 6
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

sanders_11_ASD_discovery_cases-11206.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32

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

Age: 6.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 108241418
CNV End: 108250724
CNV Size: 9306
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11370.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102

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

Age: 14.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 107280744
CNV End: 107286199
CNV Size: 5455
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11712.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60

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

Age: 5.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 30091
CNV End: 39996
CNV Size: 9905
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12099.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 108241418
CNV End: 108250724
CNV Size: 9306
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12257.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 107349901
CNV End: 107539772
CNV Size: 189871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR1267, FAM155A

sanders_11_ASD_discovery_cases-13036.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19

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

Age: 11.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 108241418
CNV End: 108250724
CNV Size: 9306
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
Show all Control Details Show all Cohort Details

13q33.3

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: 75
Female: 25
Unknown: -
CNV Size: 18379

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 or Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: -

13q33.3

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: 51600

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q33.3

Description:

Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)

Diagnosis:

Control

Poultney CS , et al. (2013)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 107844

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
Show all Control Details Show all Cohort Details

sanders_11_ASD_discovery_controls-11206.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 8.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 108241418
CNV End: 108259797
CNV Size: 18379
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12572.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 6.6

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 107095195
CNV End: 107096697
CNV Size: 1502
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

poultney_13_ASD_discovery_controls-control04C28858A

Clinical Profile:

NIMH Control (NIMH ID 59633)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 109019709
CNV End: 109127552
CNV Size: 107844
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MYO16-AS2, MYO16

engchuan_15_ASD_discovery_controls-controlB216574_1007873989

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 107458651
CNV End: 107510251
CNV Size: 51600
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900242_900242

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 107989957
CNV End: 108026163
CNV Size: 36206
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
Genes associated with 13q33.3(0 Models)
MYO16 3  /  7 Rare Single Gene Mutation, Genetic Association
Score
4
Submit New Gene

Report an Error