KCNJ16:Ensemblv90

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KCNJ16 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited renal tubular disease, MONDO:0015962, KCNJ16-related
  • Renal tubulopathy
  • deafness

Green KCNJ16 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited renal tubular disease, MONDO:0015962, KCNJ16-related
  • Renal tubulopathy
  • deafness

Green KCNJ16 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • deafness
    • Renal tubulopathy
    • Inherited renal tubular disease, MONDO:0015962, KCNJ16-related

    Green KCNJ16 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Inherited renal tubular disease, MONDO:0015962, KCNJ16-related
    • Renal tubulopathy
    • deafness

    Green KCNJ16 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Literature
    • Expert Review Green
    Phenotypes
    • deafness
    • Renal tubulopathy
    • Inherited renal tubular disease, MONDO:0015962, KCNJ16-related