BPES_FOXL2
- Gene
- FOXL2
- Disease
- BPES
- Inheritance
- AD, AR
- Classification
- Definitive
- Total Score
- 14.5
- Publications Reviewed
- 6
- Publication Span
- 7.08 years
- Last Updated
- 06/04/2025
- Curator(s)
- Laurel Hiatt
Genetic evidence
Total: 9
| Singular Evidence | Probands | PMID:11468277 | 2.5 | 5, probands and sporadic | ||
| Singular Evidence | Probands | PMID:27283035 | 3.5 | 5 probands, some with multiple generations, etc | ||
| Collective Evidence | Computational | PMID:33875939 | 1 | Highly conserved | ||
| Collective Evidence | Segregation | PMID:33875939 | 2 | lod score ~3.9 i think, panel/targeted sequencing |
4 rows
Experimental evidence
Total: 5.5
| Models | Cell culture | PMID:15591279 | 1 | |||
| Functional Alteration | Non-patient cells | PMID:18372316 | 0.5 | |||
| Models | Non-Human Model Organism | PMID:22248822 | 4 | Review describes multiple animal models, cell models and protein alteration. Here scored based on animal models. |
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.