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  2. Epidermolysis bullosa
  3. ATP2C1
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Epidermolysis bullosa

Gene: ATP2C1

Green List (high evidence)
ATP2C1 (ATPase secretory pathway Ca2+ transporting 1)
EnsemblGeneIds (GRCh38): ENSG00000017260
EnsemblGeneIds (GRCh37): ENSG00000017260
OMIM: 604384, Gene2Phenotype
ATP2C1 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Skin blistering is a feature of Hailey-Hailey disease.

PMID: 28551824;
At least 177 variants reported in this gene for Hailey-Hailey disease
Sources: Literature
Created: 10 Aug 2020, 1:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hailey-Hailey disease (MIM# 169600)

Publications

Created: 10 Aug 2020, 1:21 a.m.

Panel version: 0.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hailey-Hailey disease (MIM# 169600)
OMIM
604384
Clinvar variants
Variants in ATP2C1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

10 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2c1 has been classified as Green List (High Evidence).

10 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2c1 has been classified as Green List (High Evidence).

10 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: ATP2C1 was added gene: ATP2C1 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP2C1 were set to 28551824 Phenotypes for gene: ATP2C1 were set to Hailey-Hailey disease (MIM# 169600) Penetrance for gene: ATP2C1 were set to unknown Review for gene: ATP2C1 was set to GREEN