PanelApp (stage)
  1. Genes and Genomic Entities
  2. ATP2B4

ATP2B4

ATPase plasma membrane Ca2+ transporting 4
OMIM: 108732, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber ATP2B4 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related

Amber ATP2B4 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

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Pure and complicated hereditary spastic paraplegia