AEBP1

AE binding protein 1
OMIM: 602981, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green AEBP1 in Ehlers Danlos syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, classic-like, 2, OMIM:618000