ADAMTS9
Chr 3ADAM metallopeptidase with thrombospondin type 1 motif 9
This metalloproteinase cleaves large proteoglycans including aggrecan and versican, and promotes protein transport from the endoplasmic reticulum to the Golgi apparatus. Mutations cause Winchester syndrome, a rare autosomal recessive disorder characterized by progressive osteolysis, corneal opacities, and skin abnormalities. The gene is highly constrained against loss-of-function variants, indicating that complete loss of function is likely incompatible with normal development.
Limited evidence — not for standalone diagnostic reporting
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
200 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 | 0 | 0 | 0 | 0 | 0 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 147 | 1 | 0 | 149 |
Likely Benign | 0 | 3 | 6 | 15 | 24 |
Benign | 0 | 1 | 1 | 1 | 3 |
Conflicting | — | 1 | |||
| Total | 1 | 151 | 8 | 16 | 177 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ADAMTS9 · 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