XLID_SOX3
- Gene
- SOX3
- Disease
- XLID, PHPX
- Inheritance
- XR
- Classification
- Limited
- Total Score
- 6
- Publications Reviewed
- 5
- Publication Span
- 6.62 years
- Last Updated
- 05/14/2026
- Curator(s)
- Laurel Hiatt, Macayla Weiner, Harriet Dashnow
Description
Patients have been reported with a repeat mutation in SOX3, caused by overexpression, downstream decrease in protein levels, and dysregulation. 5 total patients across 2 papers and a mouse model. SOX3 has previously been curated by the ClinGen Syndromic Disorders GCEP (08/02/2023) for SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder.
Genetic evidence
Total: 3
| Singular Evidence | Probands | PMID:24346842 | 1.5 | 1 male proband with molcularly confirmed Kabuki syndrome and functional and de novo evidence. |
| Collective Evidence | Segregation | PMID:19654509 | 1.5 | Studied one family with 4 affected individuals and 14 unaffected. LOD = 4.2. |
2 rows
Experimental evidence
Total: 3
| Models | Cell culture | PMID:30488659 | 1 | Decreased expression and significant hypermethylation. |
| Function | Regulatory impact | PMID:17127446 | 0.5 | Overexpression inhibits downstream signaling. |
| Function | Biochemical function | PMID:17127446 | 0.5 | The paper examines the aggregation of mutant SOX3 proteins, their subcellular localization, and the formation of aggresomes. |
| Models | Non-human model organism | PMID:23505376 | 1 | Mouse model used to gain mechanistic insights for models with phenotype. |
4 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.