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Cerebral Palsy

Gene: ATP1A2

Red List (low evidence)
ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 16 panels

1 review

Clare van Eyk (University of Adelaide)

I don't know

1 individual with monoallelic missense variant reported in large-scale exome sequencing study. Detailed clinical data not provided.
Sources: Literature
Created: 27 May 2024, 3:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alternating hemiplegia of childhood 1, MIM#104290

Publications

Created: 27 May 2024, 3:28 a.m.

Panel version: 1.193

History Filter Activity

29 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp1a2 has been classified as Red List (Low Evidence).

29 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp1a2 has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: ATP1A2 was added gene: ATP1A2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to PMID: 38693247 Phenotypes for gene: ATP1A2 were set to Alternating hemiplegia of childhood 1, MIM#104290 Review for gene: ATP1A2 was set to AMBER