ATP1A3

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

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green ATP1A3 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.201

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.43

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • ATP1A3-associated neurological disorder MONDO:0700002

    Green ATP1A3 in Alternating Hemiplegia and Hemiplegic Migraine


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.61

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.400

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Brain Channelopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.5

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Mendeliome


    Version 1.3512

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.144

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel
  • 0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.59

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Green ATP1A3 in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.42

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Red ATP1A3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Rapid-onset dystonia-parkinsonism

    Green ATP1A3 in Fetal anomalies


    Version 1.465

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • ATP1A3-associated neurological disorder, MONDO:0700002

    Red ATP1A3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Rapid-onset dystonia-parkinsonism