Skeletal muscle channelopathy
Gene: ATP2A1

ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)
EnsemblGeneIds (GRCh38): ENSG00000196296
EnsemblGeneIds (GRCh37): ENSG00000196296
OMIM: 108730, Gene2Phenotype
ATP2A1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: added additional publications to support Green rating. NB: SERCA1 is the previous gene symbol for ATP1A2
Created: 8 Nov 2019, 2:57 p.m. | Last Modified: 8 Nov 2019, 2:57 p.m.

Panel Version: 0.18

Created: 8 Nov 2019, 2:57 p.m.
Last Modified: 8 Nov 2019, 2:57 p.m.
Panel version: 0.18

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brody myopathy, 601003

Publications

Odermatt et al 1996 Nat Genet 14, 191-4 PMID: 8841193

Created: 25 Oct 2019, 12:31 p.m.
Last Modified: 25 Oct 2019, 12:31 p.m.
Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
London North GLH

Phenotypes

Brody myopathy OMIM:601003

OMIM

108730

Clinvar variants

Variants in ATP2A1

Penetrance

None

Publications

8841193

Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ATP2A1 were changed from Brody myopathy, 601003 to Brody myopathy OMIM:601003

8 Nov 2019, Gel status: 3