Genes in panel

Neurodegenerative disorders - adult onset

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 17 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment - several cases reported, not progressive. Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) is an autosomal dominant neurologic disorder characterized by early-childhood onset of recurrent episodes of acute ataxic encephalopathy associated with febrile illnesses. Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction - several cases. Green for dystonia only.
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; CAPOS syndrome; DYSTONIA 12, 128235; Dystonia-12; alternating hemiplegia of childhood; Dystonia-12, 128235; Rapid-Onset Dystonia-Parkinsonism; rapid-onset dystonia-parkinsonism; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
  • CAPOS syndrome
  • DYSTONIA 12, 128235
  • Dystonia-12
  • alternating hemiplegia of childhood
  • Dystonia-12, 128235
  • Rapid-Onset Dystonia-Parkinsonism
  • rapid-onset dystonia-parkinsonism
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
  • Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Tags
treatable
OMIM
182350
Clinvar variants
Variants in ATP1A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ATP1A3.

23 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ATP1A3 were changed from 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232 to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 15260953; 22842232

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ATP1A3.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP1A3.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ATP1A3.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag treatable tag was added to gene: ATP1A3.

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; DYSTONIA 12, 128235 for gene: ATP1A3

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; CAPOS syndrome; rapid-onset dystonia-parkinsonism; Dystonia-12 for gene: ATP1A3

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) for gene: ATP1A3

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ATP1A3 was added gene: ATP1A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP1A3 were set to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232 Phenotypes for gene: ATP1A3 were set to Dystonia-12, 128235; Rapid-Onset Dystonia-Parkinsonism