SCA27B_FGF14
- Gene
- FGF14
- Disease
- SCA27B
- Inheritance
- AR
- Classification
- Definitive
- Total Score
- 12.5
- Publications Reviewed
- 5
- Publication Span
- 22.41 years
- Last Updated
- 06/04/2025
- Curator(s)
- Laurel Hiatt, Harriet Dashnow
Genetic evidence
Total: 9
| Singular Evidence | Probands | PMID:36493768 | 6 | 13 affected individuals with expansion per PCR in the discovery cohort, 8 confirmed with short read sequencing, 5 of these with long reads. primary fibroblasts from 3 probands showed reduced FGF14 expression |
| Collective Evidence | Allele | PMID:39263992 | 2 | |
| Collective Evidence | Segregation | PMID:12489043 | 1 | LOD for marker region 4.28 |
3 rows
Experimental evidence
Total: 3.5
| Models | Non-human model organism | PMID:12123606 | 1 | |
| Function | Protein interaction | PMID:17978045 | 0.5 | |
| Functional Alteration | Patient cells | PMID:39263992 | 2 |
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.