WDR53
Chr 3WD repeat domain 53
The WDR53 gene encodes a protein containing WD domains, though its specific cellular function remains unknown. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, following an autosomal recessive inheritance pattern. This gene shows minimal constraint against loss-of-function variants, which is consistent with the recessive disease mechanism observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
162 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 | 84 | 0 | 84 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 48 | 14 | 0 | 62 |
Likely Benign | 0 | 5 | 1 | 0 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 0 | 53 | 102 | 0 | 156 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WDR53 · 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