AP5B1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green AP5B1 in Mendeliome


Version 1.4852

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related

Green AP5B1 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.31

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related

    Green AP5B1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.60

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related