ATP1A3

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

18 panels

Panel Reviews Mode of inheritance Details
18 panels
Green ATP1A3 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.120

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 1.80

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 1.147

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 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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 1.9

    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 1.332

    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)
    Green ATP1A3 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Polymicrogyria, MONDO:0000087
    • epilepsy, MONDO:0005027
    • developmental delay
    • Developmental and epileptic encephalopathy 99, OMIM:619606
    Red ATP1A3 in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green ATP1A3 in Paroxysmal central nervous system disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    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 Adult onset neurodegenerative disorder


    Version 4.46
    Latest signed off version: v4.34 (31 Jul 2023)

    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, OMIM:614820
    • CAPOS syndrome, OMIM:601338
    • DYSTONIA 12, OMIM:128235
    • Rapid-Onset Dystonia-Parkinsonism
    Tags
    • treatable
    Red ATP1A3 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.175
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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)
    Green ATP1A3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Alternating Hemiplegia of Childhood (AHC), intellectual disability
    Green ATP1A3 in Hereditary ataxia with onset in adulthood


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    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 dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Alternating hemiplegia of childhood 2 OMIM:614820
    • alternating hemiplegia of childhood 2 MONDO:0013900
    • CAPOS syndrome OMIM:601338
    • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038
    • Dystonia-12 OMIM:128235
    • dystonia 12 MONDO:0007496
    Green ATP1A3 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    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 1.182

    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