Genomics England
GMS Panels
Panels
Genes and Entities

ATP2A2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
OMIM: 108740
PanelMode of inheritanceDetails
2 panels
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Segmental Darier disease OMIM:124200, Darier-White disease OMIM:124200, Acrokeratosis verruciformis, OMIM:101900
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dominant rhabdomyolysis