This Panel is marked as Internal
Dystonia - childhood onset
Gene: ATP1A3
ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dystonia-12, 128235
- DYSTONIA 12, 128235
- ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
- Rapid-Onset Dystonia-Parkinsonism
- Tags
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Malformations of cortical development
- Auditory Neuropathy Spectrum Disorde
- Fetal anomalies
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: ATP1A3.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ATP1A3 was added gene: ATP1A3 was added to Dystonia - childhood onset. 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; 20301334; 22850527 Phenotypes for gene: ATP1A3 were set to Dystonia-12, 128235; DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Rapid-Onset Dystonia-Parkinsonism