Mosaic skin disorders - deep sequencing

Gene: ATP2A2

Amber List (moderate evidence)

ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2)
EnsemblGeneIds (GRCh38): ENSG00000174437
EnsemblGeneIds (GRCh37): ENSG00000174437
OMIM: 108740, Gene2Phenotype
ATP2A2 is in 4 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple reports of somatic mosaicism.
Created: 18 Feb 2021, 8:04 a.m. | Last Modified: 18 Feb 2021, 8:04 a.m.
Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Darier disease, MIM# 124200


Catherine Snow (Genomics England)

I don't know

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:ATP2A2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.13


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Amber
Clinvar variants
Variants in ATP2A2
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: ATP2A2 was added gene: ATP2A2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Amber Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown