CLCNKB

chloride voltage-gated channel Kb
OMIM: 602023, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CLCNKB in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.24
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Bartter syndrome, type 3, 607364
    • Type 3 Bartter syndrome
    • Bartter syndrome, type 4b, digenic, 613090
    • BARTTER SYNDROME TYPE 4B

    Red CLCNKB in Ductal plate malformation


    Version 1.18

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Bartter syndrome, type 3 (607364)
    • Bartter syndrome, type 4b, digenic (613090)

    Amber CLCNKB in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • BARTTER SYNDROME TYPE 4B

    Amber CLCNKB in DDG2P


    Version 2.44
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • BARTTER SYNDROME TYPE 4B 613090

    Green CLCNKB in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
    • Bartter syndrome, type 3, 607394

    Red CLCNKB in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1282
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Bartter syndrome, type 3, 607364Bartter syndrome, type 4b, digenic, 613090
    • BARTTER SYNDROME TYPE 4B
    Tags
    • polygenic