WDR45B
Chr 17ARWD repeat domain 45B
Also known as: NEDSBAS, WDR45L, WIPI-3, WIPI3
The protein contains seven WD40 repeats that form a beta-propeller structure mediating protein-protein interactions and contains a conserved motif for phospholipid interaction, functioning in preautophagosomal structures. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures. The pathogenic mechanism likely involves disrupted autophagy processes due to impaired preautophagosomal structure formation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
113 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 | 1 | 0 | 18 | 0 | 19 |
Likely Pathogenic | 2 | 0 | 5 | 0 | 7 |
VUS | 0 | 31 | 28 | 0 | 59 |
Likely Benign | 0 | 1 | 0 | 7 | 8 |
Benign | 0 | 0 | 3 | 1 | 4 |
Conflicting | — | 1 | |||
| Total | 3 | 32 | 54 | 8 | 98 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WDR45B · 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