WDR26
Chr 1ADWD repeat domain 26
Also known as: CDW2, GID7, MIP2, SKDEAS
The protein is a WD repeat-containing protein that facilitates formation of multiprotein complexes involved in cell cycle progression, signal transduction, apoptosis, and gene regulation. Loss-of-function mutations cause Skraban-Deardorff syndrome through an autosomal dominant inheritance pattern. The gene is highly intolerant to loss-of-function variation, consistent with haploinsufficiency as the disease mechanism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
299 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 | 35 | 0 | 22 | 0 | 57 |
Likely Pathogenic | 7 | 12 | 0 | 0 | 19 |
VUS | 1 | 142 | 12 | 1 | 156 |
Likely Benign | 0 | 13 | 2 | 18 | 33 |
Benign | 0 | 3 | 2 | 4 | 9 |
Conflicting | — | 7 | |||
| Total | 43 | 170 | 38 | 23 | 281 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WDR26 · 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
External Resources
Links to major genomics databases and tools