1. Genes and Genomic Entities
  2. KCNJ1

KCNJ1

potassium voltage-gated channel subfamily J member 1
OMIM: 600359, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green KCNJ1 in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 5.5
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
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Antenatal Bartter Syndrome
    • Bartter syndrome, type 2, 241200
    • Type 2 Bartter syndrome
    • often initial transient hyperkalemia
    Red KCNJ1 in Amelogenesis imperfecta


    Level 2: Musculoskeletal
    Version 4.26
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Bartter syndrome, type 2, 241200
    • Amelogenesis Imperfecta
    Green KCNJ1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Bartter syndrome 241200
    Green KCNJ1 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
    • Eligibility statement prior genetic testing
    Phenotypes
    • Hypokalaemic alkalosis with hypercalciuria
    • Type 2 Bartter syndrome
    • often initial transient hyperkalemia
    • Bartter syndrome, type 2, 241200