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  3. ATP2A2
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Desmosomal 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)

Comment when marking as ready: Multiple reports of somatic mosaicism.
Created: 1 Jun 2022, 9:19 a.m. | Last Modified: 1 Jun 2022, 9:19 a.m.
Panel Version: 0.25
Multiple families and animal models.
Created: 1 Jun 2022, 9:16 a.m. | Last Modified: 1 Jun 2022, 9:16 a.m.
Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Darier disease, MIM# 124200; Acrokeratosis verruciformis, MIM# 101900

Publications

Created: 1 Jun 2022, 9:16 a.m.
Last Modified: 1 Jun 2022, 9:16 a.m.
Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Darier disease, MIM# 124200
  • Acrokeratosis verruciformis, MIM# 101900
Tags
somatic
OMIM
108740
Clinvar variants
Variants in ATP2A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2022, 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).

1 Jun 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: ATP2A2.

1 Jun 2022, 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; Acrokeratosis verruciformis, MIM# 101900

1 Jun 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP2A2 were set to

1 Jun 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP2A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Jun 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP2A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

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 Desmosomal disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP2A2 was set to Unknown