PCDHGA11
Homo sapiens
Gene Name: protocadherin gamma subfamily A, 11
Aliases: PCDH-GAMMA-A11
Chromosome No: 5
Chromosome Band: 5q31.3
Genetic Category: Rare Single Gene variant
Aliases: PCDH-GAMMA-A11
Chromosome No: 5
Chromosome Band: 5q31.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare mutation in the PCDHGA11 gene has been identified in an individual with ASD (Sato et al., 2012).
Molecular Function
Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN342R001
stop_gained
c.939T>G
p.Tyr313Ter
Familial
Maternal
Multi-generational
GEN342R005
frameshift_variant
c.1002del
p.Met334IlefsTer2
Familial
Maternal
Extended multiplex
Common
No Common Variants Available
