CLCNKA

chloride voltage-gated channel Ka
OMIM: 602024, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CLCNKA in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review Other
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bartter syndrome, type 4b, digenic, MIM#613090

Amber CLCNKA in Mendeliome


Version 1.1891

review Other
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 4b, digenic
  • OMIM #613090

Red CLCNKA in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Other
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Bartter syndrome, type 4b, digenic, MIM#613090

Amber CLCNKA in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • KidGen_Tubulopathies v38.1.0
    • Expert Review Amber
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bartter syndrome, type 4b, digenic
    • OMIM #613090