PanelApp (stage)
  1. Genes and Genomic Entities
  2. KCNT1

KCNT1

potassium sodium-activated channel subfamily T member 1
OMIM: 608167, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green KCNT1 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#614959

Green KCNT1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 5, MIM# 615005
  • Epileptic encephalopathy, early infantile, 14, MIM# 614959

Green KCNT1 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
    • Epilepsy, nocturnal frontal lobe, 5, MIM# 615005
    • Epileptic encephalopathy, early infantile, 14, MIM# 614959

    Green KCNT1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green KCNT1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Red KCNT1 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Epilepsy, nocturnal frontal lobe, 5 (MIM#615005)
    • Epileptic encephalopathy, early infantile, 14 (MIM#614959)

    Green KCNT1 in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.14

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • GREP
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epileptic encephalopathy, early infantile, 14
    • Epilepsy, nocturnal frontal lobe, 5

    Red KCNT1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Developmental and epileptic encephalopathy 14, MIM# 614959