IFT172

Chr 2

intraflagellar transport 172

Also known as: BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim

NCBI Gene: 26160 ENSG00000138002 UniProt: Q9UG01

The protein is required for the maintenance and formation of cilia and plays an indirect role in hedgehog signaling. Mutations cause autosomal recessive ciliopathies including Bardet-Biedl syndrome, retinitis pigmentosa, and short-rib thoracic dysplasia with or without polydactyly. The gene is extremely intolerant to loss-of-function variants (pLI approaching 1), reflecting the critical importance of proper ciliary function for multiple organ systems including skeletal, retinal, and renal development.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtShort-rib thoracic dysplasia 10 with or without polydactyly

UniProtRetinitis pigmentosa 71

UniProtBardet-Biedl syndrome 20

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)

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P/LP submissions

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P/LP missense

0.76

LOEUF

LOF

Mechanism· G2P

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GeneReview available — IFT172