AP5M1

adaptor related protein complex 5 subunit mu 1
OMIM: 614368, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green AP5M1 in Mendeliome


Version 2.0

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

Green AP5M1 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 2.0

Component of the following Super Panels:

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

    Green AP5M1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 1.0

    Component of the following Super Panels:

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