Copy Number Variants / 13q14.2-q14.3

13q14.2-q14.3

Type
Deletion
Average Length
1284109
Range
50307092-51591201
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

A deletion of unknown origin in the 13q14.2-q14.3 was identified in a proband with Aicardi-Goutieres Syndrome 1 from a mixed cohort of cases presenting with neurodevelopmental disorders or non-neurodevelopmental disorders (Pfundt et al., 2016).

Reports related to 13q14.2-q14.3 (1 Reports)
# Type Title Author, Year
1 Minor Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Pfundt R , et al. (2016)
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13q14.2-q14.3

Description:

Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting

Diagnosis:

Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)

Pfundt R , et al. (2016)
Cohort Size: 1430

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1284109

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

Platform: Solid5500xl or IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A
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pfundt_16_nonNDD_discovery_cases-case59

Clinical Profile:

Disease cohort: muscle disorder. Description: Aicardi-Goutieres Syndrome 1

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: Non-NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 1284109
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
Gene Content: -
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

No control individuals reported.

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