CPUM_TYMS
- Gene
- TYMS
- Disease
- CPUM
- Inheritance
- AR
- Classification
- Limited
- Total Score
- 1.5
- Publications Reviewed
- 1
- Publication Span
- 0.43 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Harriet Dashnow
Description
A GATGGT repeat in the TYMS gene was reported to cause congenital progressive melanosis (CPUM). This paper sequenced (WGS) two affected twins [@pmid:40589716].
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: 0
| Function | Regulatory impact | PMID:40589716 | 0 | No consistent differences in TYMS expression were observed between probands and controls. In cultured skin fibroblasts, TYMS protein levels varied between the twins (twin A lower than twin B) but remained within the control range. Similarly, mean TYMS expression levels in patient PBMCs and skin fibroblasts fell within values observed in control samples. |
1 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.