PCDH15

Chr 10ARDigenic recessive

protocadherin related 15

ENSG00000150275 UniProt: Q96QU1 OMIM: 605514

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Deafness, autosomal recessive 23MIM #609533

Usher syndrome, type 1D/F digenicMIM #601067

ARDigenic recessive

Usher syndrome, type 1FMIM #602083

UniProtUsher syndrome 1F

UniProtUsher syndrome 1D/F

Clinical highlights

Gene-disease validity (ClinGen)

nonsyndromic genetic hearing loss · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.79

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)