1. Genes and Genomic Entities
  2. KCNJ16

KCNJ16

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green KCNJ16 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

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 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

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