1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. ATP1A3
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: ATP1A3

Green List (high evidence)
ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 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
  • Alternating hemiplegia of childhood 2 OMIM:614820
  • alternating hemiplegia of childhood 2 MONDO:0013900
  • CAPOS syndrome OMIM:601338
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038
  • Dystonia-12 OMIM:128235
  • dystonia 12 MONDO:0007496
OMIM
182350
Clinvar variants
Variants in ATP1A3
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: ATP1A3 were changed from CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12 to Alternating hemiplegia of childhood 2 OMIM:614820; alternating hemiplegia of childhood 2 MONDO:0013900; CAPOS syndrome OMIM:601338; cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038; Dystonia-12 OMIM:128235; dystonia 12 MONDO:0007496

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP1A3.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ATP1A3.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ATP1A3 was added gene: ATP1A3 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to 22842232; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22850527 Phenotypes for gene: ATP1A3 were set to CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12