KCNJ16

potassium voltage-gated channel subfamily J member 16
OMIM: 605722, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber KCNJ16 in Unexplained young onset end-stage renal disease


Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Hypokalemic tubulopathy and deafness, OMIM:619406
    Tags
    • Q4_23_promote_green
    Green KCNJ16 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Hypokalemic tubulopathy and deafness, OMIM:619406
    Green KCNJ16 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypokalemic tubulopathy and deafness, OMIM:619406