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  3. CLCNKB
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Fetal anomalies

Gene: CLCNKB

Green List (high evidence)
CLCNKB (chloride voltage-gated channel Kb)
EnsemblGeneIds (GRCh38): ENSG00000184908
EnsemblGeneIds (GRCh37): ENSG00000184908
OMIM: 602023, Gene2Phenotype
CLCNKB is in 6 panels

6 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 CLCNKB 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, 3:52 p.m. | Last Modified: 10 Mar 2026, 3:52 p.m.
Panel Version: 6.153
The rating of this gene has been updated to Green 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, 11:35 a.m.
Panel version: 6.153

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; Bartter syndrome, type 3, OMIM:607364

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

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

I don't know

Multiple examples of polyhydramnios presenting prenatally. Amber. Polyhydramnios not eligible for R21
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 3, OMIM:607364; Bartter syndrome, type 4b, digenic, OMIM:613090

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Created: 10 Aug 2023, 9:39 a.m. | Last Modified: 10 Aug 2023, 9:39 a.m.
Panel Version: 3.103
Created: 10 Aug 2023, 9:39 a.m.
Last Modified: 10 Aug 2023, 9:39 a.m.
Panel version: 3.103

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for BARTTER SYNDROME TYPE 4B
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bartter disease type 4B, MONDO:0000909
  • Bartter syndrome, type 4b, digenic, OMIM:613090
  • Bartter syndrome, type 3, OMIM:607364
  • Bartter disease type 3, MONDO:0011822
Tags
monogenic-polygenic digenic
OMIM
602023
Clinvar variants
Variants in CLCNKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CLCNKB were set to

10 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag digenic tag was added to gene: CLCNKB.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter syndrome, type 3, OMIM:607364 for gene: CLCNKB

9 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CLCNKB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 Aug 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag monogenic-polygenic tag was added to gene: CLCNKB.

10 Aug 2023, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

8 Aug 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CLCNKB was added gene: CLCNKB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B