LRRC56

Chr 11AR

leucine rich repeat containing 56

Also known as: CILD39, DNAAF12, oda8

NCBI Gene: 115399 ENSG00000161328 UniProt: Q8IYG6 OMIM: 618227

The protein is required for the assembly of dynein arms in cilia and is predicted to be involved in cell projection organization. Mutations cause primary ciliary dyskinesia 39, an autosomal recessive disorder affecting the respiratory system and other ciliated organs. The gene is highly constrained against loss-of-function variants (pLI ~1.0), indicating that complete loss of function is likely not tolerated.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in cell projection organization. Predicted to be located in cilium. Implicated in primary ciliary dyskinesia 39. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.251 OMIM phenotype

Clinical Summary— LRRC56

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Gene-Disease Validity (ClinGen)

ciliary dyskinesia, primary, 39 · ARModerate

Moderate evidence — consider for supplementary testing

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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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GeneReview available — LRRC56

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.000

Z-score 0.74

OE 0.82 (0.55–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.88Z-score

OE missense 1.14 (1.04–1.25)

353 obs / 309.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.82 (0.55–1.25)

0≤0.351.4

Missense OE?1.14 (1.04–1.25)

0≤0.61.4

Synonymous OE?1.37

0≤1.21.6

LoF obs/exp: 16 / 19.5Missense obs/exp: 353 / 309.3Syn Z: -3.38

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

strongLRRC56-related mucociliary clearance and laterality defectsLOFAR

This gene — mechanism propensity

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

0.5967th %ile

GOF

0.72top 25%

LOF

0.4233th %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.