CPUM_TYMS
- Gene
- TTYMS
- Disease
- CPUM
- Inheritance
- AR
- Classification
- Limited
- Total Score
- 2.5
- Publications Reviewed
- 2
- Publication Span
- 0.43 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner
Description
A GATGGT repeat in the TYMS gene was reported to cause congenital progressive melanosis (CPUM). This paper sequenced (WGS) two affected twins.
Genetic evidence
Total: 1.5
| Singular Evidence | Probands | PMID:40589716 | 1.5 | Studied 2 siblings with inheritance evidence and expression information |
1 rows
Experimental evidence
Total: 1
| Function | Cell culture | PMID:24763282 | 0.5 | Evidence of effect of premutation alleles. |
| Function | Regulatory impact | PMID:24763282 | 0.5 | Changes in gene expression evident in affected patients |
2 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.