IFT27
Chr 22ARintraflagellar transport 27
Also known as: BBS19, CFAP156, FAP156, RABL4, RAYL
This gene encodes a small GTPase component of the intraflagellar transport complex B that promotes exit of the BBSome complex from cilia and is required for hedgehog signaling. Mutations cause Bardet-Biedl syndrome 19, a ciliopathy affecting multiple organ systems including the kidneys, retina, and reproductive system. The condition follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IFT27 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools