CEP83

Chr 12

centrosomal protein 83

Also known as: CCDC41, NPHP18, NY-REN-58

NCBI Gene: 51134 ENSG00000173588 UniProt: Q9Y592

The encoded protein is a centriolar component that initiates primary cilium assembly and collaborates with IFT20 in trafficking ciliary membrane proteins from the Golgi complex to the cilium. Mutations cause nephronophthisis 18, an infantile kidney disorder that can be associated with intellectual disability. The condition follows autosomal recessive inheritance.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNephronophthisis 18

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

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P/LP missense

0.89

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CEP83