PCDH15
Chr 10ARDigenic recessiveprotocadherin related 15
Also known as: CDHR15, DFNB23, USH1F
This calcium-dependent cell-adhesion protein is essential for maintenance of normal retinal and cochlear function. Mutations cause autosomal recessive deafness and Usher syndrome type 1F, which involves congenital profound hearing loss combined with progressive vision loss due to retinitis pigmentosa. The gene is extremely intolerant to loss-of-function variants, indicating its critical role in sensory organ development and function.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PCDH15 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools