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  3. CLCNKA
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Fetal anomalies

Gene: CLCNKA

Green List (high evidence)
CLCNKA (chloride voltage-gated channel Ka)
EnsemblGeneIds (GRCh38): ENSG00000186510
EnsemblGeneIds (GRCh37): ENSG00000186510
OMIM: 602024, Gene2Phenotype
CLCNKA is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKA variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Created: 10 Mar 2026, 3:42 p.m. | Last Modified: 10 Mar 2026, 3:47 p.m.
Panel Version: 6.152
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 3:47 p.m.
Panel version: 6.152

Tessa Homfray (Consultant HNS)

Green List (high evidence)

Consistency check - other Bartter genes on panel. Should be added.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 4b, digenic, OMIM:613090

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bartter syndrome, type 4b, digenic, OMIM:613090
Tags
digenic
OMIM
602024
Clinvar variants
Variants in CLCNKA
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag digenic tag was added to gene: CLCNKA.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 for gene: CLCNKA

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: CLCNKA was added gene: CLCNKA was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal