PanelApp (staging)
  1. Genes and Genomic Entities
  2. AP5Z1

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 1.2302

1 review 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 1.13

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of autophagy
    • hereditary spastic paraplegia MONDO:0019064

    Green AP5Z1 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.11

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 48, autosomal recessive, MIM# 613647
    • MONDO:0013342

    Amber AP5Z1 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.86

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spastic paraplegia 48, autosomal recessive, MIM# 613647