Paroxysmal central nervous system disorders

Gene: ATP1A4

No list

ATP1A4 (ATPase Na+/K+ transporting subunit alpha 4)
EnsemblGeneIds (GRCh38): ENSG00000132681
EnsemblGeneIds (GRCh37): ENSG00000132681
OMIM: 607321, Gene2Phenotype
ATP1A4 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported where missense variant segregated with hemiplegic migraine in four affected individuals.
Sources: Literature
Created: 2 Nov 2020, 9:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemiplegic migraine

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Hemiplegic migraine
OMIM
607321
Clinvar variants
Variants in ATP1A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ATP1A4 was added gene: ATP1A4 was added to Paroxysmal central nervous system disorders. Sources: Literature Mode of inheritance for gene: ATP1A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A4 were set to 32549268 Phenotypes for gene: ATP1A4 were set to Hemiplegic migraine Review for gene: ATP1A4 was set to RED