CPLANE1

Chr 5

ciliogenesis and planar polarity effector complex subunit 1

Also known as: C5orf42, Hug, JBTS17, OFD6

NCBI Gene: 65250 ENSG00000197603 UniProt: Q9H799

This protein is involved in ciliogenesis and establishment of cell polarity required for directional cell migration, functioning as part of the CPLANE complex to recruit peripheral IFT-A proteins to basal bodies. Mutations cause Joubert syndrome 17 and orofaciodigital syndrome VI, both ciliopathies affecting the central nervous system and multiple organ systems. The inheritance pattern is autosomal recessive.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJoubert syndrome 17

UniProtOrofaciodigital syndrome 6

Clinical highlights

Gene-disease validity (ClinGen)

Joubert syndrome 17 · 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)

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P/LP submissions

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P/LP missense

0.67

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CPLANE1