1. Panels
  2. Paroxysmal central nervous system disorders
  3. ATP1A4

Paroxysmal central nervous system disorders

Gene: ATP1A4

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Created: 22 Jun 2021, 1:58 p.m. | Last Modified: 22 Jun 2021, 1:58 p.m.
Panel Version: 1.15
Created: 22 Jun 2021, 1:58 p.m.
Last Modified: 22 Jun 2021, 1:58 p.m.
Panel version: 1.15

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

Created: 2 Nov 2020, 9:35 a.m.

Panel version: 1.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • familial hemiplegic migraine, MONDO:0000700
OMIM
607321
Clinvar variants
Variants in ATP1A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: atp1a4 has been classified as Red List (Low Evidence).

22 Jun 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ATP1A4 were changed from Hemiplegic migraine to familial hemiplegic migraine, MONDO:0000700

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