KCNQ2

potassium voltage-gated channel subfamily Q member 2
OMIM: 602235, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red KCNQ2 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.30

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seizures, benign neonatal, 1, 121200
  • Myokymia, 121200
  • Epileptic encephalopathy, early infantile, 7, 613720

Green KCNQ2 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.66

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myokymia, 121200

Red KCNQ2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.93

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Red KCNQ2 in Autism


Version 0.27

review Not set
Sources
  • Expert Review Red
  • SFARI

Green KCNQ2 in Paroxysmal central nervous system disorders


Version 1.15
Latest signed off version: v1.14 (16 Dec 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Myokymia, 121200
  • Seizures, benign neonatal, 1, 121200
  • Epileptic encephalopathy, early infantile, 7, 613720

Red KCNQ2 in Neurodegenerative disorders - adult onset


Version 2.57
Latest signed off version: v2.56 (16 Dec 2021)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Dystonia
  • Myokymia, 121200

Red KCNQ2 in Fetal anomalies


Version 1.638
Latest signed off version: v1.637 (30 Jun 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BENIGN NEONATAL EPILEPSY TYPE 1
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7

Green KCNQ2 in DDG2P


Version 2.21
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 EARLY INFANTILE TYPE 7 613720
    • BENIGN NEONATAL EPILEPSY TYPE 1 121200

    Green KCNQ2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert
    • Expert Review Green
    Phenotypes
    • BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1)
    • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7)
    • Epileptic encephalopathy, early infantile, 7
    • Myokymia
    • Seizures, benign neonatal, 1

    Green KCNQ2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Seizures, benign neonatal, 1, 121200Myokymia, 121200Epileptic encephalopathy, early infantile, 7, 613720
    • BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1)

    Green KCNQ2 in Hereditary ataxia - adult onset


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Brain channelopathy v1.46
    Phenotypes
    • Early infantile encephalopathy 7, 613720
    • Myokymia, 121200

    Red KCNQ2 in Adult onset movement disorder


    Version 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Myokymia, 121200

    Green KCNQ2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Myokymia, 121200
    • Dystonia

    Green KCNQ2 in Severe Paediatric Disorders


    Version 1.66

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 7, 613720
    • Seizures, benign neonatal, 1, 121200
    • Myokymia, 121200

    Green KCNQ2 in NewbornFullV1


    Version 0.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green