1. Genes and Genomic Entities
  2. KCNK4

KCNK4

potassium two pore domain channel subfamily K member 4
OMIM: 605720, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red KCNK4 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
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381
    Green KCNK4 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.123
    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, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Neurodevelopmental delay
    • Intellectual disability
    • Seizures
    • Gingival overgrowth
    • Hypertrichosis
    Amber KCNK4 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.280
    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, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert Review
    • Literature
    Phenotypes
    • Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381
    Tags
    • watchlist