This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: ATP1A3
ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 17 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 11:01 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Rapid-Onset Dystonia-Parkinsonism
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- Complete
- Panels with this gene
-
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Early onset or syndromic epilepsy
- Hereditary ataxia
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Auditory Neuropathy Spectrum Disorde
- Hereditary spastic paraplegia, childhood onset
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Neurodegenerative disorders, adult onset
- DDG2P
- Brain channelopathy
- Hereditary ataxia, adult onset
- Paroxysmal central nervous system disorders
- Malformations of cortical development
History Filter Activity
10 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Jul 2015, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATP1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATP1A3 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Illumina TruGenome Clinical Sequencing Services