FRA7A_ZNF13
- Gene
- ZNF13
- Disease
- FRA7A
- Inheritance
- AD
- Classification
- Limited
- Total Score
- 4
- Publications Reviewed
- 2
- Publication Span
- 10.32 years
- Last Updated
- 08/18/2025
- Curator(s)
- Laurel Hiatt, Macayla Weiner
Description
A GCG repeat was reported in patients of two families, one with a proband overexpressing FRA7A and one exhibiting the premutation allele.
Genetic evidence
Total: 3.5
| Singular Evidence | Probands | PMID:39068203 | 1.5 | Research studied two families, but only one proband with both ASD and FRA7A overexpression. The other proband expressed the premutation allele. |
| Collective Evidence | Case-control data | PMID:39068203 | 2 | Poorly matched controls and small power, but did find statistical significance. |
2 rows
Experimental evidence
Total: 0.5
| Function | Regulatory impact | PMID:24763282 | 0.5 | Evidence of effect of premutation alleles. |
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.