AP5B1

adaptor related protein complex 5 beta 1 subunit
OMIM: 614367, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber AP5B1 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lysosomal macular dystrophy