KCNJ6

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

4 panels

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


Level 2: Endocrinology
Version 4.67
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
Red KCNJ6 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
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Keppen-Lubinsky syndrome, OMIM:614098
Green KCNJ6 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 Green
    • DD-Gene2Phenotype
    Phenotypes
    • KEPPEN-LUBINSKY SYNDROME 614098
    Green KCNJ6 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, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Keppen-Lubinsky syndrome 614098