SOX11
Chr 2ADSRY-box transcription factor 11
Also known as: CSS9, IDDMOH, MRD27
SOX11 encodes a transcription factor that binds to gene promoters to activate transcription and plays a critical role in cell survival during development of the neural tube, branchial arches, and somites. Mutations cause autosomal dominant intellectual developmental disorder with microcephaly and variable features including ocular malformations or hypogonadotropic hypogonadism. The gene is highly constrained against loss-of-function variants, reflecting its essential role in neurodevelopment.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SOX11 · 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