ATP1A1

ATPase Na+/K+ transporting subunit alpha 1
OMIM: 182310, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red ATP1A1 in Autism


Version 0.20

review Not set
Sources
  • Expert Review Red
  • SFARI

Amber ATP1A1 in DDG2P


Version 2.18
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 Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Renal Hypomagnesemia Refractory Seizures and Intellectual Disability

    Green ATP1A1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036

    Green ATP1A1 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.25
    Signed off v.2.23 on 16 Oct 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypomagnesemia, seizures, and mental retardation 2 618314
    • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036

    Green ATP1A1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.274
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Hypomagnesemia
    • Seizures
    • Intellectual disability

    Green ATP1A1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    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, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Hypomagnesemia
    • Seizures
    • Intellectual disability

    Green ATP1A1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036

    Green ATP1A1 in Severe Paediatric Disorders


    Version 1.43

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
    • Hypomagnesemia, seizures, and mental retardation 2, 618314