IFT52

Chr 20AR

intraflagellar transport 52

Also known as: C20orf9, CGI-53, NGD2, NGD5

NCBI Gene: 51098 ENSG00000101052 UniProt: Q9Y366 OMIM: 617094

This gene encodes a protein that is essential for intraflagellar transport and the assembly and maintenance of cilia. Mutations cause short-rib thoracic dysplasia 16 with or without polydactyly, a ciliopathy that primarily affects skeletal development and is inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants (pLI near 0), which is consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Short-rib thoracic dysplasia 16 with or without polydactylyMIM #617102

Clinical highlights

Gene-disease validity (ClinGen)

short-rib thoracic dysplasia 16 with or without polydactyly · ARModerateconsider for supplementary testing

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

0.87

LOEUF

LOF

Mechanism· G2P

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GeneReview available — IFT52