PanelApp
  1. Genes and Genomic Entities
  2. ATP2A2

ATP2A2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
OMIM: 108740, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ATP2A2 in Desmosomal disorders


Level 2: Dermatological disorders
Version 0.33

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Darier disease, MIM# 124200
  • Acrokeratosis verruciformis, MIM# 101900
Tags
  • somatic

Green ATP2A2 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Darier disease (MIM#124200)

Green ATP2A2 in Mendeliome


Version 1.2655

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrokeratosis verruciformis MIM#101900
  • Darier disease MIM#124200
  • Congenital myopathy, MONDO:0019952, ATP2A2-related
  • rhabdomyolysis

Red ATP2A2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.174

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Darier disease, MIM#124200

Amber ATP2A2 in Rhabdomyolysis and Metabolic Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital myopathy, MONDO:0019952, ATP2A2-related
    • rhabdomyolysis

    Green ATP2A2 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Darier disease, MIM# 124200
    Tags
    • somatic

    Green ATP2A2 in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Darier disease MONDO:0007417