Curation FRAXE AFF2

Gene AFF2
Disease FRAXE
Inheritance XLR
Score

12 + 2.5 = 14.5 / 18

Genetic + experimental = total
Classification
0
18
Refuted
Moderate
Definitive
Last Updated 08/11/2025
Pubs Reviewed 7
Publication Span 20 years
Publication Interval 20 years
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

All criTRia Curations Locus Page

Genetic evidence

Total: 12

No genetic evidence details available.

Experimental evidence

Total: 2.5

No experimental evidence details available.

Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.