LRRC56
Chr 11leucine rich repeat containing 56
Also known as: CILD39, DNAAF12, oda8
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.
Moderate evidence — consider for supplementary testing
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 0 | 1 | 0 | 3 |
Likely Pathogenic | 2 | 2 | 4 | 0 | 8 |
VUS | 7 | 59 | 9 | 0 | 75 |
Likely Benign | 1 | 5 | 44 | 50 | 100 |
Benign | 0 | 0 | 8 | 0 | 8 |
Conflicting | — | 2 | |||
| Total | 12 | 66 | 66 | 50 | 196 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View 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.
3D Protein StructureAlphaFold
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