Nephrocalcinosis or nephrolithiasis
Gene: CLCNKA

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

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Created: 10 Aug 2023, 12:08 p.m. | Last Modified: 10 Aug 2023, 12:20 p.m.

Panel Version: 4.6

Created: 10 Aug 2023, 12:08 p.m.
Last Modified: 10 Aug 2023, 12:20 p.m.
Panel version: 4.5

Detlef Bockenhauer (GOSH-UCL)

Red List (low evidence)

Not associated with any disease.
Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.

Panel Version: 1.23

Created: 30 Oct 2019, 11:59 a.m.
Last Modified: 30 Oct 2019, 11:59 a.m.
Panel version: 1.23

Eleanor Williams (Genomics England Curator)

Associated with Bartter syndrome, type 4b, digenic #613090 (DR) in OMIM.
Created: 10 Oct 2019, 4:11 p.m. | Last Modified: 10 Oct 2019, 4:11 p.m.

Panel Version: 1.18

Created: 10 Oct 2019, 4:11 p.m.
Last Modified: 10 Oct 2019, 4:11 p.m.
Panel version: 1.18

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is a possible DD gene for Bartter syndrome Type 4B.
Created: 20 May 2016, 9:16 a.m.

Created: 20 May 2016, 9:16 a.m.

Panel version: 0.53

Details

Mode of Inheritance

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

OMIM

602024

Clinvar variants

Variants in CLCNKA

Penetrance

Complete

Publications

Panels with this gene