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 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 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 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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    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