SOX18
Chr 20ARADSRY-box transcription factor 18
Also known as: HLTRS, HLTS
SOX18 encodes a transcription factor that activates genes essential for embryonic cardiovascular development, lymphangiogenesis, and hair development by binding to specific promoter sequences. Mutations cause hypotrichosis-lymphedema-telangiectasia syndrome, with or without renal defects, characterized by sparse hair, lymphatic abnormalities, and dilated blood vessels. The condition follows both autosomal recessive and autosomal dominant inheritance patterns.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SOX18 · 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