FRAXE_AFF2
- Gene
- AFF2
- Disease
- FRAXE
- Inheritance
- XL
- Classification
- Definitive
- Total Score
- 14.5
- Publications Reviewed
- 7
- Publication Span
- 20 years
- Last Updated
- 08/11/2025
- Curator(s)
- Intellectual Disability and Autism GCEP
Description
Curation is for non-syndromic X-linked intellectual disability (MONDO:0019181) https://search.clinicalgenome.org/CCID:004069. FRAXE intellectual disability (MONDO:0010659) has been curated for AFF2 under Dosage Sensitivity https://search.clinicalgenome.org/CCID:006630 - Classification: Sufficient Evidence
Genetic evidence
Total: 12
No genetic evidence details available.
Experimental evidence
Total: 2.5
No experimental evidence details available.
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.