PanelApp (stage)
  1. Genes and Genomic Entities
  2. KCNB1

KCNB1

potassium voltage-gated channel subfamily B member 1
OMIM: 600397, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KCNB1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy MIM#616056

Green KCNB1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 26, MIM# 616056

Green KCNB1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epileptic encephalopathy, early infantile, 26, MIM# 616056

    Green KCNB1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Epileptic encephalopathy, early infantile, 26, MIM# 616056