WNT5A
Chr 3ADWnt family member 5A
WNT5A encodes a secreted signaling protein that serves as a ligand for frizzled receptors and can either activate or inhibit canonical Wnt signaling depending on receptor context, playing essential roles in embryonic axis extension, limb outgrowth, and chondrogenesis. Mutations cause autosomal dominant Robinow syndrome, which involves skeletal abnormalities and distinctive facial features. This gene is highly constrained against loss-of-function variation (pLI 0.99), indicating that such variants are likely to be pathogenic.
Moderate evidence — consider for supplementary testing
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WNT5A · 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