PCDH15 Chromosome 10
Protocadherin related 15
Upload your DNA to see your personal genotypes for variants in PCDH15.
What This Gene Does
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). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
"Cadherin related|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q21.1
Ensembl
ENSG00000150275
Associated Conditions (23)
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1
Retinal dystrophy
Inborn genetic diseases
PCDH15-related disorder
Rare genetic deafness
Optic atrophy
Hearing impairment
Hearing loss
autosomal recessive
Nonsyndromic Deafness
Usher syndrome
See cases
Lung cancer
Ear malformation
Progressive cone dystrophy (without rod involvement)
Usher syndrome type 1G
USHER SYNDROME
+3 more conditions
Key Variants
RS1040514625
Conflicting classifications of pathogenicity
Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
Health Risk
RS111033363
Conflicting classifications of pathogenicity
Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
Health Risk
RS111033436
Conflicting classifications of pathogenicity
Usher syndrome type 1, Usher syndrome type 1F, Usher syndrome type 1
Health Risk
RS111033445
Conflicting classifications of pathogenicity
Usher syndrome type 1, Usher syndrome type 1F, Usher syndrome type 1
Health Risk
RS111033449
Conflicting classifications of pathogenicity
Usher syndrome type 1, Inborn genetic diseases, Usher syndrome type 1
Health Risk
RS111033499
Conflicting classifications of pathogenicity
Usher syndrome type 1, Usher syndrome type 1F, PCDH15-related disorder
Health Risk
RS111033516
Conflicting classifications of pathogenicity
Usher syndrome type 1, Usher syndrome type 1F, Usher syndrome type 1
Health Risk
RS114137983
Conflicting classifications of pathogenicity
Usher syndrome type 1, Usher syndrome type 1F, PCDH15-related disorder
Health Risk
RS1209357687
Conflicting classifications of pathogenicity
Health Risk
RS12246234
Conflicting classifications of pathogenicity
Usher syndrome type 1F, Usher syndrome type 1F
Health Risk
RS1252259548
Conflicting classifications of pathogenicity
Usher syndrome type 1, Usher syndrome type 1
Health Risk
RS1338600699
Conflicting classifications of pathogenicity
Usher syndrome type 1F, Usher syndrome type 1F
Health Risk
All Variants (566)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2094144598 | Health Risk | Pathogenic | Usher syndrome type 1D, Usher syndrome type 1D |
| RS2132579465 | Health Risk | Pathogenic | — |
| RS2132634562 | Health Risk | Pathogenic | — |
| RS2133038541 | Health Risk | Pathogenic | — |
| RS2133664431 | Health Risk | Pathogenic | Usher syndrome type 1F, Usher syndrome type 1F |
| RS2133801703 | Health Risk | Pathogenic | Usher syndrome type 1D, Usher syndrome type 1D |
| RS2133818115 | Health Risk | Pathogenic | — |
| RS2133818635 | Health Risk | Pathogenic | — |
| RS2133883986 | Health Risk | Pathogenic | — |
| RS2133924837 | Health Risk | Pathogenic | — |
| RS2134108223 | Health Risk | Pathogenic | — |
| RS2134714165 | Health Risk | Pathogenic | Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D |
| RS2134901685 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23 |
| RS2134904455 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23 |
| RS2135283149 | Health Risk | Pathogenic | — |
| RS2135322427 | Health Risk | Pathogenic | — |
| RS2135323462 | Health Risk | Pathogenic | — |
| RS2135421507 | Health Risk | Pathogenic | — |
| RS2135421905 | Health Risk | Pathogenic | Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F |
| RS2135810142 | Health Risk | Pathogenic | — |
| RS2135810742 | Health Risk | Pathogenic | — |
| RS2135947078 | Health Risk | Pathogenic | — |
| RS2492076748 | Health Risk | Pathogenic | Usher syndrome type 1F, Usher syndrome type 1F |
| RS2492334575 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS2492399843 | Health Risk | Pathogenic | — |
| RS2492400327 | Health Risk | Pathogenic | — |
| RS2492406160 | Health Risk | Pathogenic | — |
| RS2492407812 | Health Risk | Pathogenic | — |
| RS2492409057 | Health Risk | Pathogenic | — |
| RS2492409460 | Health Risk | Pathogenic | — |
| RS2492409608 | Health Risk | Pathogenic | — |
| RS2492411088 | Health Risk | Pathogenic | — |
| RS2492412300 | Health Risk | Pathogenic | — |
| RS2492412442 | Health Risk | Pathogenic | — |
| RS2492414051 | Health Risk | Pathogenic | — |
| RS2492414097 | Health Risk | Pathogenic | — |
| RS2492414569 | Health Risk | Pathogenic | — |
| RS2492416400 | Health Risk | Pathogenic | — |
| RS2492416436 | Health Risk | Pathogenic | — |
| RS2492417837 | Health Risk | Pathogenic | Usher syndrome type 1F, Usher syndrome type 1F |
| RS2492548718 | Health Risk | Pathogenic | — |
| RS2492554859 | Health Risk | Pathogenic | — |
| RS2492843112 | Health Risk | Pathogenic | — |
| RS2493175179 | Health Risk | Pathogenic | Usher syndrome type 1D, Usher syndrome type 1D |
| RS2493176179 | Health Risk | Pathogenic | — |
| RS2493176566 | Health Risk | Pathogenic | — |
| RS2493177626 | Health Risk | Pathogenic | — |
| RS2493336930 | Health Risk | Pathogenic | — |
| RS2493338396 | Health Risk | Pathogenic | — |
| RS2494605090 | Health Risk | Pathogenic | — |