WDR37
Chr 10ADWD repeat domain 37
Also known as: NOCGUS
This protein is required for normal endoplasmic reticulum calcium handling in lymphocytes and plays an essential role in stabilizing peripheral lymphocyte populations together with PACS1. Mutations cause neurooculocardiogenitourinary syndrome, a multisystem disorder affecting the nervous system, eyes, heart, and genitourinary tract, with autosomal dominant inheritance. The gene shows significant constraint against loss-of-function variants (LOEUF 0.412), indicating that such variants are likely pathogenic.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
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
207 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 | 29 | 0 | 29 |
Likely Pathogenic | 0 | 8 | 2 | 0 | 10 |
VUS | 0 | 79 | 24 | 0 | 103 |
Likely Benign | 0 | 19 | 5 | 17 | 41 |
Benign | 0 | 1 | 2 | 0 | 3 |
Conflicting | — | 2 | |||
| Total | 0 | 107 | 62 | 17 | 188 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WDR37 · 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