KCNK3

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

6 panels

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

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.23

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 2: Neurology
Version 10.23
Latest signed off version: v10.16 (12 Aug 2026)

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 2: Respiratory
Version 4.15
Latest signed off version: v4.14 (12 Aug 2026)

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 Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
Green KCNK3 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

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


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

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