Genomics England
GMS Panels
Panels
Genes and Entities

ATP2A2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
OMIM: 108740
PanelMode of inheritanceDetails
1 panel
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 2.49
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Segmental Darier disease OMIM:124200, Darier-White disease OMIM:124200, Acrokeratosis verruciformis, OMIM:101900