CLCNKA

chloride voltage-gated channel Ka
OMIM: 602024, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CLCNKA in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

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

Amber CLCNKA in Mendeliome


Version 2.0

1 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 2.0

1 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 2.0

2 reviews 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