TWSG1
Chr 18twisted gastrulation BMP signaling modulator 1
Also known as: TSG
TWSG1 encodes a protein that binds transforming growth factor beta and modulates BMP signaling pathways, which are critical for cartilage development and chondrocyte differentiation. Mutations cause autosomal recessive developmental disorders affecting skeletal and immune system development. The gene shows relatively low constraint to loss-of-function variation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
139 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 | 96 | 0 | 96 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 23 | 8 | 0 | 31 |
Likely Benign | 0 | 0 | 1 | 2 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 23 | 107 | 2 | 132 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TWSG1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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