Epileptic encephalopathy
Gene: ATP1A3EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alternating hemiplegia of childhood 2; Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly; Dystonia-12; CAPOS Syndrome (recurrent mutation)
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
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alternating hemiplegia of childhood 2; Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly; Dystonia-12; CAPOS Syndrome (recurrent mutation)
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
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alternating hemiplegia of childhood 2; Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly; Dystonia-12; CAPOS Syndrome (recurrent mutation)
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
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alternating hemiplegia of childhood 2; Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly; Dystonia-12; CAPOS Syndrome (recurrent mutation)
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
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed to not imprinted after checking imprinted gene list.Created: 17 Dec 2015, 12:37 p.m.
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ATP1A3 were set to Alternating hemiplegia of childhood 2; Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly; Dystonia-12; CAPOS Syndrome (recurrent mutation)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATP1A3 were set to 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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ATP1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)ATP1A3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
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
Added New Source
Ellen McDonagh (Genomics England Curator)ATP1A3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)ATP1A3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert