KCNK3

potassium two pore domain channel subfamily K member 3
OMIM: 603220, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red KCNK3 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Pulmonary hypertension, primary, 4, 615344
    Green KCNK3 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.31
    Latest signed off version: v5.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Developmental disorder with sleep apnea
    Green KCNK3 in Pulmonary arterial hypertension

    Level 3: Pulmonary heart disease
    Level 2: Cardiovascular disorders
    Version 3.5
    Latest signed off version: v3.0 (30 Nov 2022)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert list
    • Expert Review Green
    • Literature
    Phenotypes
    • Pulmonary hypertension, primary, 4, OMIM:615344
    Green KCNK3 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • KCNK3-related developmental disorder (monoallelic)
    Green KCNK3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Developmental disorder with sleep apnea