ATP2A2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ATP2A2 in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.9

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Chronic Heart Failure
  • Patients That Have Received a Left Ventricular Assist Device
Amber ATP2A2 in Epidermolysis bullosa and congenital skin fragility


Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Darier-White disease, OMIM:124200
Amber ATP2A2 in Mosaic skin disorders - deep sequencing


Version 2.47
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Segmental Darier disease OMIM:124200
  • Darier-White disease OMIM:124200
  • Acrokeratosis verruciformis, OMIM:101900
Tags
  • Q3_23_promote_green
  • Q3_23_NHS_review
Red ATP2A2 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Darier disease 124200