LRRC56
Chr 11ARleucine rich repeat containing 56
Also known as: CILD39, DNAAF12, oda8
Primary Disease Associations & Inheritance
Ciliary dyskinesia, primary, 39MIM #618254
AR
Clinical highlights
Gene-disease validity (ClinGen)
ciliary dyskinesia, primary, 39 · 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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
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)
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 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
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LRRC56 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools