WASHC1
Chr 9WASH complex subunit 1
Also known as: FAM39E, WASH, WASH1
The WASHC1 protein is a component of the WASH complex that activates actin polymerization at endosome surfaces, regulating endosomal trafficking and receptor recycling. Mutations cause Ritscher-Schinzel syndrome, a rare autosomal recessive disorder characterized by intellectual disability, cerebellar hypoplasia, and craniofacial anomalies. This gene shows high constraint against loss-of-function variants, indicating that biallelic mutations are required for disease manifestation.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WASHC1 · 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