KIAA0586

Chr 14AR

KIAA0586

Also known as: JBTS23, SRTD14, Talpid3

NCBI Gene: 9786 ENSG00000100578 UniProt: Q9BVV6 OMIM: 610178

This gene encodes a centrosomal protein required for ciliogenesis and sonic hedgehog signaling, including centrosomal recruitment of RAB8A and targeting of centriole satellite proteins to centrosomes. Mutations cause Joubert syndrome 23 and short-rib thoracic dysplasia 14 with polydactyly through autosomal recessive inheritance. These are ciliopathies affecting the central nervous system, skeleton, and often multiple organ systems.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Joubert syndrome 23MIM #616490

Short-rib thoracic dysplasia 14 with polydactylyMIM #616546

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

0.72

LOEUF

LOF

Mechanism· G2P

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GeneReview available — KIAA0586