Skeletal Muscle Channelopathies
Gene: ATP2A1EnsemblGeneIds (GRCh38): ENSG00000196296
EnsemblGeneIds (GRCh37): ENSG00000196296
OMIM: 108730, Gene2Phenotype
ATP2A1 is in 6 panels
4 reviews
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Brody myopathy is characterised by exercise-induced impairment of muscle relaxation, stiffening and cramps, and muscle pain (these symptoms were referred to as pseudomyotonia), due to reduced sarcoplasmic reticulum Ca2+ ATPase (SERCA1) activity. Hence there can be a partial clinical overlap with skeletal muscle channelopathies (SCN4A for example)Created: 11 Jan 2017, 2:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRODY MYOPATHY
Publications
Ellen McDonagh (Genomics England Curator)
This gene is not mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 2:53 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Brody myopathy 601003
- OMIM
- 108730
- Clinvar variants
- Variants in ATP2A1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATP2A1 were set to Brody myopathy 601003
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for ATP2A1 were set to 884119; 8841193; 9367679
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Richard Scott (Genomics England Curator)ATP2A1 was created by richardhywel
Added New Source
Richard Scott (Genomics England Curator)ATP2A1 was added to Skeletal Muscle Channelopathiespanel. Sources: Expert list