AEBP1

AE binding protein 1
OMIM: 602981, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green AEBP1 in Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.65
Latest signed off version: v2.3 (4 Mar 2020)

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