Renal tubulopathies

Gene: CLCNKB

Green List (high evidence)

CLCNKB (chloride voltage-gated channel Kb)
EnsemblGeneIds (GRCh38): ENSG00000184908
EnsemblGeneIds (GRCh37): ENSG00000184908
OMIM: 602023, Gene2Phenotype
CLCNKB is in 7 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: CLCNKB; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 3, MIM 607394

Variants in this GENE are reported as part of current diagnostic practice

Ellen Thomas (Genomics England Curator)

Comment on mode of inheritance: Monoallelic only in the context of possible digenic inheritance, so should only be biallelic in our current system.
Created: 16 May 2016, 2:31 p.m.

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and in Eligibility statement prior genetic testing
Created: 10 May 2016, 11:04 a.m.

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Sometimes single allele identified. Can also be one allele of two where the second is in CLCNKA and the patient has Type 4B Bartters.
This is NOT RTA
Created: 28 Oct 2015, 9:47 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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
  • Bartter syndrome, type 3, 607394
OMIM
602023
Clinvar variants
Variants in CLCNKB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Jun 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CLCNKB were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria to Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Bartter syndrome, type 3, 607394

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CLCNKB. Rating Changed from Green List (high evidence) to Green List (high evidence)

16 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

10 May 2016, Gel status: 4

Set publications

Damian Smedley (Genomics England Curator)

Publications for CLCNKB were set to 9326936

10 May 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CLCNKB was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing