1. Panels
  2. Alternating Hemiplegia and Hemiplegic Migraine
  3. ATP1A4
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Alternating Hemiplegia and Hemiplegic Migraine

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported where missense variant segregated with hemiplegic migraine in four affected individuals.
Sources: Literature
Created: 8 Oct 2020, 10:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemiplegic migraine

Publications

Created: 8 Oct 2020, 10:43 a.m.

Panel version: 0.38

Details

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

History Filter Activity

8 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP1A4 was added gene: ATP1A4 was added to Alternating Hemiplegia and Hemiplegic Migraine. 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