Paroxysmal central nervous system disorders
Gene: ATP1A4Comment 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
Single family reported where missense variant segregated with hemiplegic migraine in four affected individuals.
Sources: LiteratureCreated: 2 Nov 2020, 9:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemiplegic migraine
Publications
Gene: atp1a4 has been classified as Red List (Low Evidence).
Phenotypes for gene: ATP1A4 were changed from Hemiplegic migraine to familial hemiplegic migraine, MONDO:0000700
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