IFT27

Chr 22AR

intraflagellar transport 27

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

NCBI Gene: 11020 ENSG00000100360 UniProt: Q9BW83 OMIM: 615870

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

MultiplemechanismARLOEUF 1.411 OMIM phenotype

Clinical Summary— IFT27

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Gene-Disease Validity (ClinGen)

ciliopathy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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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

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

limitedIFT27-related Bardet-Biedl syndromeOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.80top 25%

GOF

0.82top 10%

LOF

0.2190th %ile

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.