WDPCP

Chr 2AR

WD repeat containing planar cell polarity effector

Also known as: BBS15, C2orf86, CHDTHP, CPLANE5, FRITZ, FRTZ

NCBI Gene: 51057 ENSG00000143951 UniProt: O95876 OMIM: 613580

This cytoplasmic WD40 repeat protein functions as an effector in the planar cell polarity signaling pathway, regulating the septin cytoskeleton in ciliogenesis and collective cell movements as part of the CPLANE complex. Mutations cause Bardet-Biedl syndrome 15 and congenital heart defects with hamartomas of tongue and polysyndactyly, following autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (pLI near zero), consistent with recessive disease requiring biallelic mutations.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Bardet-Biedl syndrome 15MIM #615992

Congenital heart defects, hamartomas of tongue, and polysyndactylyMIM #217085

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

0.78

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — WDPCP