KCNA2

potassium voltage-gated channel subfamily A member 2
OMIM: 176262, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber KCNA2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 32 OMIM:616366
    • developmental and epileptic encephalopathy, 32 MONDO:0014607
    Tags
    • Q2_21_rating

    Green KCNA2 in Hereditary spastic paraplegia - childhood onset


    Version 2.145
    Latest signed off version: v2.18 (8 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • hereditary spastic paraplegia and ataxia

    Green KCNA2 in Hereditary spastic paraplegia - adult onset


    Version 1.102
    Latest signed off version: v1.27 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary spastic paraplegia and ataxia

    Red KCNA2 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY.

    Green KCNA2 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY Loss-of-function
    • EPILEPTIC ENCEPHALOPATHY Gain-of-function

    Green KCNA2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Epileptic encephalopathy, early infantile, 32, 616366
    • Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family

    Green KCNA2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Developmental and epileptic encephalopathy 32 OMIM:616366
    • developmental and epileptic encephalopathy, 32 MONDO:0014607

    Green KCNA2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (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 Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY.

    Green KCNA2 in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Early infantile encephalopathy 32, 616366

    Amber KCNA2 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Epileptic encephalopathy, early infantile, 32, 616366
    • Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family

    Green KCNA2 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 32, 616366