1. Genes and Genomic Entities
  2. KCNQ2

KCNQ2

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

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red KCNQ2 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

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 1.83

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 1.152

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Green KCNQ2 in Paroxysmal central nervous system disorders


Level 2: Neurology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

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 Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

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


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 7, OMIM:613720
    • Seizures, benign neonatal, 1, OMIM:121200
    Green KCNQ2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Developmental and epileptic encephalopathy 7, OMIM:613720
    Green KCNQ2 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		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, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • PanelApp
    • London North GLH
    Phenotypes
    • Developmental and epileptic encephalopathy 7, OMIM:613720
    • developmental and epileptic encephalopathy, 7, MONDO:0013387
    • Myokymia, OMIM:121200
    • Seizures, benign neonatal, 1, OMIM:121200
    • seizures, benign familial neonatal, 1, MONDO:0007365