This Panel is marked as Retired
Epilepsy Plus
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
- Expert
- UKGTN
- Phenotypes
-
- Alternating hemiplegia of childhood 2
- Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly
- Dystonia-12
- CAPOS Syndrome (recurrent mutation)
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- Complete
- Publications
-
- Heinzen et al (2012) Nature Genet 44(9): 1030-1035
- de Carvalho Aguiar et al (2004) Neuron 43: 169-175
- Demos et al (2014) Orphanet Journal of Rare Diseases 2014, 9:15
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
- Auditory Neuropathy Spectrum Disorde
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Brain channelopathy
History Filter Activity
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ATP1A3 was added to Epilepsy Pluspanel. Sources: UKGTN,Expert,Expert Review Green
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATP1A3 was created by ellenmcdonagh