Skeletal Muscle Channelopathies
Gene: ATP2A1
ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)
EnsemblGeneIds (GRCh38): ENSG00000196296
EnsemblGeneIds (GRCh37): ENSG00000196296
OMIM: 108730, Gene2Phenotype
ATP2A1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000196296
EnsemblGeneIds (GRCh37): ENSG00000196296
OMIM: 108730, Gene2Phenotype
ATP2A1 is in 6 panels
1 review
Sebastian Lunke (Victorian Clinical Genetics Services)
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