1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. ATP1A2
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: ATP1A2

Green List (high evidence)
ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • familial basilar migraine OMIM:602481
  • familial hemiplegic migraine type 2 OMIM:602481
  • migraine, familial hemiplegic, 2 MONDO:0011232
  • alternating hemiplegia of childhood OMIM:104290
  • alternating hemiplegia of childhood 1 MONDO:0007087
OMIM
182340
Clinvar variants
Variants in ATP1A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ATP1A2 were changed from familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 to familial basilar migraine OMIM:602481; familial hemiplegic migraine type 2 OMIM:602481; migraine, familial hemiplegic, 2 MONDO:0011232; alternating hemiplegia of childhood OMIM:104290; alternating hemiplegia of childhood 1 MONDO:0007087

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP1A2.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ATP1A2.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ATP1A2 was added gene: ATP1A2 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581 Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290