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) a pair of affected twins [@pmid:40589716].
Genetic evidence
Total: 1.5
| Singular Evidence | Probands | PMID:40589716 | 1.5 | A single family with 2 twins 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. Hypermethylation was observed. |
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.