PCDH15
Homo sapiens
Gene Name: protocadherin related 15
Aliases: RP11-449J3.2, CDHR15, DFNB23, USH1F
Chromosome No: 10
Chromosome Band: 10q21.1
Genetic Category: Genetic association-Rare single gene variant-Syndromic
Aliases: RP11-449J3.2, CDHR15, DFNB23, USH1F
Chromosome No: 10
Chromosome Band: 10q21.1
Genetic Category: Genetic association-Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 11
Recent Reports: 0
Annotated variants: 45
Associated CNVs: 4
Evidence score: 3
ASD Reports: 11
Recent Reports: 0
Annotated variants: 45
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A SNP within the PCDH15 gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).
Molecular Function
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
DD, ID, epilepsy/seizures
Support
Genome-wide detection of tandem DNA repeats that are expanded in autism
ASD
Support
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Usher syndrome, type 1F
Support
Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders.
ASD, SCZ
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN399R040
stop_gained
c.4705_4706insAAGT
p.Ser1569Ter
Familial
Paternal
Multiplex
GEN399R043
frameshift_variant
c.228_229insC
p.Thr77HisfsTer9
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN399C001
intron_variant
rs1930165
c.92-13768C>T;c.92-14293C>T;c.91+122002C>T
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
