SOX8
Chr 16SRY-box transcription factor 8
The SOX8 protein is a transcription factor that binds DNA and regulates embryonic development, particularly in the central nervous system, limbs, and facial structures. Haploinsufficiency causes cognitive disability as part of alpha-thalassemia-related syndrome (ART-16), following an autosomal dominant inheritance pattern. The pathogenic mechanism involves loss of function due to reduced gene dosage affecting normal developmental transcriptional regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
183 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 | 46 | 0 | 46 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 83 | 17 | 0 | 100 |
Likely Benign | 0 | 8 | 1 | 16 | 25 |
Benign | 0 | 0 | 3 | 6 | 9 |
Conflicting | — | 1 | |||
| Total | 0 | 91 | 68 | 22 | 182 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SOX8 · 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