1. Genes and Genomic Entities
  2. CLCNKA

CLCNKA

chloride voltage-gated channel Ka
OMIM: 602024, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red CLCNKA 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 Other
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Bartter syndrome, type 4b, digenic, OMIM:613090
    • Bartter disease type 4B, MONDO:0000909
    Tags
    • polygenic
    Red CLCNKA in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Bartter syndrome, type 4b, digenic, OMIM:613090
    • Bartter disease type 4B, MONDO:0000909
    Tags
    • polygenic
    Red CLCNKA 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 Other
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Bartter syndrome, type 4b, digenic, OMIM:613090
    • Bartter disease type 4B, MONDO:0000909
    Tags
    • polygenic
    Red CLCNKA 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 Other
    Sources
    • Gene2Phenotype
    Phenotypes
    • Bartter syndrome, type 4b, digenic, OMIM:613090
    • Bartter disease type 4B, MONDO:0000909
    Tags
    • polygenic