AP5Z1

adaptor related protein complex 5 zeta 1 subunit
OMIM: 613653, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green AP5Z1 in Mendeliome


Version 1.3795

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 48, autosomal recessive, MIM# 613647
  • MONDO:0013342

Green AP5Z1 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.24

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of autophagy
    • hereditary spastic paraplegia MONDO:0019064

    Green AP5Z1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.56

    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

    Green AP5Z1 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.129

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 48, autosomal recessive, MIM# 613647