CFAP418

Chr 8

cilia and flagella associated protein 418

Also known as: BBS21, C8orf37, CORD16, FAP418, MOT25, RP64, smalltalk

NCBI Gene: 157657 ENSG00000156172 UniProt: Q96NL8

The encoded protein localizes to the base of primary cilia and may be involved in photoreceptor outer segment disk morphogenesis. Mutations cause autosomal recessive retinal dystrophies including cone-rod dystrophy, retinitis pigmentosa, and Bardet-Biedl syndrome. This gene follows autosomal recessive inheritance and shows low constraint against loss-of-function variants (pLI <0.01, LOEUF 1.42).

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCone-rod dystrophy 16

UniProtRetinitis pigmentosa 64

UniProtBardet-Biedl syndrome 21

Clinical highlights

Gene-disease validity (ClinGen)

ciliopathy · ARDefinitivesufficient evidence for diagnostic panels

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

1.42

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CFAP418