Skeletal muscle channelopathy

Gene: ATP2A1

Green List (high evidence)

ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)
EnsemblGeneIds (GRCh38): ENSG00000196296
EnsemblGeneIds (GRCh37): ENSG00000196296
OMIM: 108730, Gene2Phenotype
ATP2A1 is in 8 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

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

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
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

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATP2A1 were set to 8841193; 30423015; 15286158; 18056581

8 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATP2A1 were set to 8841193; 30423015; 15286158,18056581

8 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATP2A1 were set to 8841193

25 Oct 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ATP2A1 were changed from to 8841193

25 Oct 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP2A1.

25 Oct 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ATP2A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Brody myopathy, 601003 for gene: ATP2A1

25 Oct 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ATP2A1. Rating Changed from Red List (low evidence) to Green List (high evidence)

25 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ATP2A1 was added gene: ATP2A1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: ATP2A1 was set to