KCNJ6

potassium voltage-gated channel subfamily J member 6
OMIM: 600877, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green KCNJ6 in Lipodystrophy - childhood onset


Version 4.50
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Keppen-Lubinsky syndrome, OMIM:614098
  • Keppen-Lubinsky syndrome, MONDO:0013572
Amber KCNJ6 in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KEPPEN-LUBINSKY SYNDROME
Green KCNJ6 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • KEPPEN-LUBINSKY SYNDROME 614098
    Green KCNJ6 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Keppen-Lubinsky syndrome 614098
    Green KCNJ6 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Keppen-Lubinsky syndrome, 614098