WDR64
Chr 1WD repeat domain 64
The WDR64 protein is a component of the ciliary transition zone that regulates ciliary assembly and function. Mutations cause Jeune asphyxiating thoracic dystrophy and short-rib polydactyly syndrome, both autosomal recessive ciliopathies characterized by skeletal dysplasia, respiratory complications, and variable involvement of kidneys and other organs. These conditions typically present in the neonatal period with life-threatening thoracic restriction and may include polydactyly and renal cystic disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
250 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 | 0 | 0 | 64 | 0 | 64 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 109 | 59 | 0 | 168 |
Likely Benign | 0 | 3 | 3 | 0 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 112 | 129 | 0 | 241 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WDR64 · 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 →No open access results found
External Resources
Links to major genomics databases and tools