FXTAS,POF1_FMR1
- Gene
- FMR1
- Disease
- FXTAS,POF1
- Inheritance
- XD
- Classification
- Definitive
- Total Score
- 14
- Publications Reviewed
- 2
- Publication Span
- 0.86 years
- Last Updated
- 08/18/2025
- Curator(s)
- Macayla Weiner
Genetic evidence
Total: 12
| Singular Evidence | Probands | PMID:17427188 | 6 | 93 probands |
| Collective Evidence | Allele | PMID:17427188 | 2 | length affects onset and severity/penetrance |
| Statistics | Case-control data | PMID:17427188 | 12 | highly significant, well matched, proven beyond bias, PCR and Southern blot |
3 rows
Experimental evidence
Total: 2
| Function | Regulatory impact | PMID:18057320 | 0.5 | |
| Functional Alteration | Patient cells | PMID:18057320 | 1 | |
| Functional Alteration | Non-patient cells | PMID:18057320 | 0.5 |
3 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.