IFT27

Chr 22

intraflagellar transport 27

Also known as: BBS19, CFAP156, FAP156, RABL4, RAYL

NCBI Gene: 11020ENSG00000100360UniProt: Q9BW83

This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBardet-Biedl syndrome 19

Clinical highlights

Gene-disease validity (ClinGen)
ciliopathy · ARDefinitivesufficient evidence for diagnostic panels
1
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.41
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — IFT27
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.41LOEUF
pLI 0.000
Z-score 0.58
OE 0.81 (0.49–1.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.22Z-score
OE missense 0.94 (0.80–1.11)
98 obs / 104.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.81 (0.49–1.41)
0≤0.351.4
Missense OE?0.94 (0.80–1.11)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 9 / 11.1Missense obs/exp: 98 / 104.2Syn Z: 0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients