RPGRIP1

Chr 14AR

RPGR interacting protein 1

Also known as: CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d

NCBI Gene: 57096 ENSG00000092200 UniProt: Q96KN7 OMIM: 605446

The protein functions as a scaffolding protein required for normal localization of RPGR at the connecting cilium of photoreceptor cells and is essential for disk morphogenesis and organization in the outer segment of photoreceptor cells. Mutations cause autosomal recessive Leber congenital amaurosis 6 and cone-rod dystrophy 13, both leading to severe visual impairment affecting the retina. The gene shows tolerance to loss-of-function variants (low constraint), consistent with its recessive inheritance pattern where biallelic mutations are required for disease.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cone-rod dystrophy 13MIM #608194

Leber congenital amaurosis 6MIM #613826

Clinical highlights

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

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.88

LOEUF

LOF

Mechanism· G2P