1. Genes and Genomic Entities
  2. KCNT1

KCNT1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber KCNT1 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, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental and epileptic encephalopathy 14, OMIM:614959
Green KCNT1 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
    • SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959
    • MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
    Green KCNT1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    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
    • Epileptic encephalopathy, early infantile, 14
    • Epilepsy, nocturnal frontal lobe, 5
    • MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
    • SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
    Green KCNT1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Epileptic encephalopathy, early infantile, 14, 614959Epilepsy, nocturnal frontal lobe, 5, 615005
    • MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY