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 8 panels

4 reviews

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

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

22 Feb 2017, Gel status: 4

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.

13 Feb 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ATP2A1 were set to Brody myopathy 601003

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for ATP2A1 were set to 884119; 8841193; 9367679

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Apr 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

ATP2A1 was created by richardhywel

7 Apr 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

ATP2A1 was added to Skeletal Muscle Channelopathiespanel. Sources: Expert list