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  3. ATP2A2
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Mosaic skin disorders

Gene: ATP2A2

Green List (high evidence)
ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2)
EnsemblGeneIds (GRCh38): ENSG00000174437
EnsemblGeneIds (GRCh37): ENSG00000174437
OMIM: 108740, Gene2Phenotype
ATP2A2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple reports of somatic mosaicism.
Created: 18 Feb 2021, 8:03 a.m. | Last Modified: 18 Feb 2021, 8:03 a.m.
Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Darier disease, MIM# 124200

Publications

Created: 18 Feb 2021, 8:03 a.m.
Last Modified: 18 Feb 2021, 8:03 a.m.
Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Darier disease, MIM# 124200
Tags
somatic
OMIM
108740
Clinvar variants
Variants in ATP2A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2a2 has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP2A2 were changed from to Darier disease, MIM# 124200

18 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP2A2 were set to

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2a2 has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: ATP2A2.

18 Feb 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP2A2 was added gene: ATP2A2 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown