WDR81
Chr 17ARWD repeat domain 81
Also known as: CAMRQ2, CHMRQ, HYC3, PPP1R166, SORF-2
This protein functions as a negative regulator of PI3 kinase activity on endosomal membranes and is required for endosome fusion, recycling, and early-to-late endosome transport, as well as aggrephagy of ubiquitinated protein aggregates. Biallelic mutations cause autosomal recessive cerebellar ataxia with impaired intellectual development and dysquilibrium syndrome (CAMRQ2) and congenital hydrocephalus with brain anomalies through loss-of-function mechanisms that disrupt endolysosomal trafficking. The gene shows moderate constraint against loss-of-function variants, consistent with recessive inheritance requiring biallelic mutations for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
443 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 | 7 | 0 | 58 | 0 | 65 |
Likely Pathogenic | 9 | 3 | 12 | 0 | 24 |
VUS | 0 | 207 | 11 | 2 | 220 |
Likely Benign | 0 | 14 | 4 | 69 | 87 |
Benign | 0 | 3 | 1 | 20 | 24 |
Conflicting | — | 8 | |||
| Total | 16 | 227 | 86 | 91 | 428 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WDR81 · 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