WWOX
Chr 16ARWW domain containing oxidoreductase
Also known as: D16S432E, DEE28, EIEE28, FOR, FRA16D, HHCMA56, PRO0128, SCAR12
The WWOX protein is an oxidoreductase that functions as a tumor suppressor by inducing apoptosis and inhibiting Wnt signaling. Biallelic mutations cause autosomal recessive developmental and epileptic encephalopathy 28 and spinocerebellar ataxia 12. The gene shows very low constraint against loss-of-function variants, consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Biallelic LOF causes WOREE syndrome (DEE28) or SCAR12 (spinocerebellar ataxia). This is an autosomal recessive LOF gene; the GOF prediction does not apply.
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WWOX · 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
Tailored Vs. Empirical Helicobacter Pylori Infection Treatment
NOT YET RECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGExternal Resources
Links to major genomics databases and tools