Skeletal Muscle Channelopathies

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 6 panels

1 review

Sebastian Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Overview article covering 18 previously published and 22 new patients with a wide range of homozygous and compound het LoF variants. Muscle related presentations varied, but generally shared muscle stiffness with or without excercise. Muscle weakness identified in about 1/3 of patients. Affects Ca2+ channels.
Created: 20 Apr 2020, 4:59 a.m. | Last Modified: 20 Apr 2020, 4:59 a.m.
Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Brody myopathy 601003
OMIM
108730
Clinvar variants
Variants in ATP2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2a1 has been classified as Green List (High Evidence).

29 Jun 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ATP2A1 were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP2A1 was added gene: ATP2A1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP2A1 were set to Brody myopathy 601003