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  3. ATP2C1
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Epidermolysis bullosa and congenital skin fragility

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 1 panel

1 review

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team ATP2C1 can be classified as Green.
Created: 4 Dec 2019, 10:33 a.m. | Last Modified: 4 Dec 2019, 10:33 a.m.
Panel Version: 0.24
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:ATP2C1; 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: 0.15
Created: 9 Sep 2019, 3:38 p.m.
Last Modified: 9 Sep 2019, 3:38 p.m.
Panel version: 0.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hailey-Hailey disease, OMIM:169600
OMIM
604384
Clinvar variants
Variants in ATP2C1
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ATP2C1 were changed from to Hailey-Hailey disease, OMIM:169600

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: ATP2C1 was added gene: ATP2C1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown