WNT7A
Chr 3ARWnt family member 7A
Also known as: SANTOS, Wnt-7a
WNT7A encodes a secreted signaling protein that functions as a ligand in the canonical Wnt/beta-catenin pathway and is essential for limb development, skeleton formation, urogenital tract development, and CNS angiogenesis. Autosomal recessive mutations cause severe limb malformation syndromes including Fuhrmann syndrome, Santos syndrome, and absence of ulna and fibula with severe limb deficiency. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.71), consistent with its critical role in early embryonic development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
158 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 | 4 | 25 | 0 | 30 |
Likely Pathogenic | 2 | 2 | 1 | 0 | 5 |
VUS | 1 | 56 | 2 | 0 | 59 |
Likely Benign | 0 | 1 | 17 | 21 | 39 |
Benign | 0 | 0 | 11 | 6 | 17 |
Conflicting | — | 6 | |||
| Total | 4 | 63 | 56 | 27 | 156 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WNT7A · 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