ATP1A3

ATPase Na+/K+ transporting subunit alpha 3
OMIM: 182350, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green ATP1A3 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Rapid-Onset Dystonia-Parkinsonism
  • Dystonia-12
  • rapid-onset dystonia-parkinsonism
  • alternating hemiplegia of childhood
  • CAPOS syndrome

Green ATP1A3 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.55

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • DYSTONIA 12, 128235
  • ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
Tags
  • treatable

Green ATP1A3 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Rapid-Onset Dystonia-Parkinsonism
  • Dystonia-12, 128235

Green ATP1A3 in Ataxia and cerebellar anomalies - narrow panel


Version 2.6
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
    • Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)

    Green ATP1A3 in Auditory Neuropathy Spectrum Disorde

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 1.8

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • 601338
    • 614820

    Green ATP1A3 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert List
    Phenotypes
    • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
    • Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)

    Red ATP1A3 in Autism


    Version 0.16

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green ATP1A3 in Paroxysmal central nervous system disorders


    Version 1.3
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Dystonia-12, 128235
    • Alternating hemiplegia of childhood 2, 614820
    • CAPOS syndrome, 601338

    Green ATP1A3 in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • 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

    Red ATP1A3 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • RAPID-ONSET DYSTONIA-PARKINSONISM
    • ALTERNATING HEMIPLEGIA OF CHILDHOOD

    Green ATP1A3 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • RAPID-ONSET DYSTONIA-PARKINSONISM 128235
    • ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290

    Green ATP1A3 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.118
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • UKGTN
    • Expert
    • Expert Review Green
    Phenotypes
    • Alternating hemiplegia of childhood 2
    • Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly
    • Dystonia-12
    • CAPOS Syndrome (recurrent mutation)

    Amber ATP1A3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    Phenotypes
    • Alternating Hemiplegia of Childhood (AHC), intellectual disability

    Green ATP1A3 in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Brain channelopathy v1.46
    • Hereditary ataxia v1.148
    Phenotypes
    • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
    • Alternating hemiplegia of childhood 2, 614820
    • Dystonia-12, 128235
    • Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
    • ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
    • CAPOS syndrome, 601338
    • DYSTONIA 12, 128235
    Tags
    • treatable

    Green ATP1A3 in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • CAPOS syndrome
    • rapid-onset dystonia-parkinsonism
    • alternating hemiplegia of childhood
    • Rapid-Onset Dystonia-Parkinsonism
    • Dystonia-12

    Green ATP1A3 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • DYSTONIA 12, 128235
    • Rapid-Onset Dystonia-Parkinsonism
    • Dystonia-12, 128235
    • ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820

    Green ATP1A3 in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alternating hemiplegia of childhood 2, 614820
    • Dystonia-12, 128235
    • CAPOS syndrome, 601338