KCNT1:Ensemblv90

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green KCNT1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy MIM#614959

Green KCNT1 in Mendeliome


Version 1.3802

1 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 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews 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 0.578

    0 reviews 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 1.508

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy MIM#614959
    • childhood-onset epilepsy syndrome MONDO:0020072

    Red KCNT1 in Fetal anomalies


    Version 1.482

    1 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 0.15

    1 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

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

    Green KCNT1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy MIM#614959

    Green KCNT1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    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 1.0

    0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green KCNT1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy MIM#614959
    • childhood-onset epilepsy syndrome MONDO:0020072

    Green KCNT1 in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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