Epileptic encephalopathy
Gene: ATP1A3
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Changed to not imprinted after checking imprinted gene list.Created: 17 Dec 2015, 12:37 p.m.
This gene has been classified as Green List (High Evidence).
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)
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
Mode of inheritance for ATP1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
ATP1A3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene ATP1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ATP1A3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
ATP1A3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert