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Epileptic encephalopathy

Gene: ATP1A3

Green List (high evidence)

ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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

History Filter Activity

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

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)

17 Dec 2015, Gel status: 4

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

17 Dec 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ATP1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

ATP1A3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 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

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP1A3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP1A3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert