WDR13
Chr XWD repeat domain 13
Also known as: MG21
This protein is a WD repeat-containing protein that negatively regulates pancreatic beta cell proliferation and insulin production. Mutations cause cerebellar ataxia, intellectual disability, and developmental delay through autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.94, LOEUF 0.36), suggesting mutations causing complete protein loss are likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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 | 0 | 0 | 82 | 0 | 82 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 37 | 12 | 0 | 49 |
Likely Benign | 0 | 1 | 1 | 3 | 5 |
Benign | 0 | 0 | 0 | 2 | 2 |
Conflicting | — | 2 | |||
| Total | 0 | 38 | 98 | 5 | 143 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WDR13 · 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