SOX1
Chr 13SRY-box transcription factor 1
The SOX1 protein is a transcription factor that keeps neural cells undifferentiated during development by suppressing neuronal differentiation and counteracting proneural proteins. Mutations in SOX1 cause microphthalmia with brain and digit anomalies, inherited in an autosomal recessive pattern. This condition affects multiple organ systems including the eyes, brain, and limbs during early development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
215 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 | 115 | 0 | 115 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 74 | 9 | 0 | 83 |
Likely Benign | 0 | 1 | 3 | 5 | 9 |
Benign | 0 | 0 | 1 | 3 | 4 |
| Total | 0 | 75 | 131 | 8 | 214 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SOX1 · 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