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 9.4
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • macular dystrophy, retinal, MONDO:0031166
Tags
  • Q2_26_promote_green