BBS5

Chr 2AR

Bardet-Biedl syndrome 5

NCBI Gene: 129880 ENSG00000163093 UniProt: Q8N3I7 OMIM: 615983

The protein is a component of the BBSome complex that functions as a coat complex required for sorting specific membrane proteins to primary cilia and promoting ciliary membrane extension through Rab8-mediated vesicle trafficking. Mutations cause Bardet-Biedl syndrome, a ciliopathy characterized by retinal dystrophy, obesity, polydactyly, renal abnormalities, and learning disabilities. Inheritance is autosomal recessive.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Bardet-Biedl syndrome 5MIM #615983

Clinical highlights

Gene-disease validity (ClinGen)

BBS5-related 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)

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P/LP submissions

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P/LP missense

0.89

LOEUF

LOF

Mechanism· G2P

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GeneReview available — BBS5