1. Panels
  2. Nephrocalcinosis or nephrolithiasis
  3. CLCNKB
STRs in panel
Prev Next
Regions in panel
Prev Next

Nephrocalcinosis or nephrolithiasis

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 11:32 a.m. | Last Modified: 6 Dec 2024, 11:32 a.m.
Panel Version: 4.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Dec 2024, 11:32 a.m.
Last Modified: 6 Dec 2024, 11:32 a.m.
Panel version: 4.19

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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), this phenotype is not relevant to this panel and the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Created: 10 Aug 2023, 9:34 a.m. | Last Modified: 10 Aug 2023, 9:34 a.m.
Panel Version: 4.3
Nephrocalcinosis would appear to be a variable feature in Bartter syndrome, type 3, OMIM:607364 (PMID:120550;9326936;15717167) and would not appear to be part of the Bartter syndrome, type 4b, digenic (OMIM: 613090) phenotype.
Created: 10 Aug 2023, 9:15 a.m. | Last Modified: 10 Aug 2023, 9:15 a.m.
Panel Version: 4.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822

Publications

Created: 10 Aug 2023, 9:15 a.m.
Last Modified: 10 Aug 2023, 9:15 a.m.
Panel version: 4.2

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: In OMIM Autosomal recessive for Bartter syndrome, type 3 607364 and Digenic recessive for Bartter syndrome, type 4b, digenic 613090.
Created: 6 Nov 2019, 5:11 p.m. | Last Modified: 6 Nov 2019, 5:11 p.m.
Panel Version: 1.47
Created: 6 Nov 2019, 5:11 p.m.
Last Modified: 6 Nov 2019, 5:11 p.m.
Panel version: 1.47

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Originally an amber gene, promoted to green after a green expert review and evidence on OMIM.
Created: 20 May 2016, 8:41 a.m.
Comment on mode of inheritance: Mode of inheritance sourced from reviewer.
Created: 20 May 2016, 8:39 a.m.
Comment on mode of inheritance: Mode of inheritance sourced from reviewer.
Created: 9 May 2016, 10:45 a.m.
Created: 9 May 2016, 10:45 a.m.

Panel version: 0.14

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

See 'dRTA' category
Created: 29 Oct 2015, 9:12 p.m.
Rarely, single allele identified.
Created: 29 Oct 2015, 9:11 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Type 3 Bartter syndrome

Created: 29 Oct 2015, 9:11 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
Tags
monogenic-polygenic
OMIM
602023
Clinvar variants
Variants in CLCNKB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_MOI was removed from gene: CLCNKB.

6 Dec 2024, Gel status: 3

Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to CLCNKB. Mode of inheritance for gene CLCNKB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

10 Aug 2023, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CLCNKB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

10 Aug 2023, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag monogenic-polygenic tag was added to gene: CLCNKB. Tag Q3_23_MOI tag was added to gene: CLCNKB.

8 Aug 2023, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, 607364; Type 3 Bartter syndrome; Bartter syndrome, type 4b, digenic, 613090; 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

6 Nov 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CLCNKB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

5 May 2017, Gel status: 4

Set publications

Olivia Niblock (Genomics England Curator)

Publications for CLCNKB were set to 28018459; 23550235

5 May 2017, Gel status: 4

Set publications

Olivia Niblock (Genomics England Curator)

Publications for CLCNKB were set to 28018459; 23550235

5 May 2017, Gel status: 4

Set publications

Olivia Niblock (Genomics England Curator)

Publications for CLCNKB were set to 28018459

20 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CLCNKB were set to

20 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CLCNKB was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

20 May 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CLCNKB were set to Bartter syndrome, type 3, 607364; Type 3 Bartter syndrome; Bartter syndrome, type 4b, digenic, 613090; BARTTER SYNDROME TYPE 4B

9 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CLCNKB was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

8 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CLCNKB was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CLCNKB was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CLCNKB was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: UKGTN