Skeletal Muscle Channelopathies

Gene: ATP1A2

Green List (high evidence)

ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Created: 8 Nov 2019, 3:06 p.m. | Last Modified: 8 Nov 2019, 3:06 p.m.
Panel Version: 1.19
added from review of the GMS myotonia congenita panel. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Sources: Expert list
Created: 8 Nov 2019, 3:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Migraine, familial hemiplegic, 2, 602481; Alternating hemiplegia of childhood 1, 104290; Hypokalaemic periodic paralysis

Publications

History Filter Activity

8 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: atp1a2 has been classified as Green List (High Evidence).

8 Nov 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ATP1A2 was added gene: ATP1A2 was added to Skeletal Muscle Channelopathies. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP1A2 were set to 30423015; 15286158; 18056581 Phenotypes for gene: ATP1A2 were set to Migraine, familial hemiplegic, 2, 602481; Alternating hemiplegia of childhood 1, 104290; Hypokalaemic periodic paralysis Review for gene: ATP1A2 was set to GREEN