Renal Tubulopathies and related disorders

Gene: CLCNKA

Amber List (moderate evidence)

CLCNKA (chloride voltage-gated channel Ka)
EnsemblGeneIds (GRCh38): ENSG00000186510
EnsemblGeneIds (GRCh37): ENSG00000186510
OMIM: 602024, Gene2Phenotype
CLCNKA is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported, and note digenic inheritance postulated.

PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C).

PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.
Created: 30 Jan 2020, 3:29 a.m. | Last Modified: 30 Jan 2020, 3:29 a.m.
Panel Version: 0.2

Mode of inheritance
Other

Phenotypes
Bartter syndrome, type 4b, digenic; OMIM #613090

Publications

Chirag Patel (Genetic Health Queensland)

I don't know

PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C).

PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.

The findings indicated digenic inheritance in patients with loss of function of all 4 alleles of the CLCNKA and CLCNKB genes resulting in Bartter syndrome type 4B
Created: 9 Jan 2020, 4:45 a.m. | Last Modified: 9 Jan 2020, 4:45 a.m.
Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 4b, digenic; OMIM #613090

Publications

Details

Mode of Inheritance
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
OMIM
602024
Clinvar variants
Variants in CLCNKA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLCNKA was added gene: CLCNKA was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0 Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCNKA were set to 18310267; 15044642 Phenotypes for gene: CLCNKA were set to Bartter syndrome, type 4b, digenic; OMIM #613090