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Prepair 1000+

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: The digenic inheritance is not clearly proven, patients with variants in both genes also had biallelic variants in this gene which is just as likely to have been the cause. Not enough evidence to report in carrier screening as a digenic condition. PMID: 18310267
Created: 6 Aug 2024, 5:10 a.m. | Last Modified: 6 Aug 2024, 5:10 a.m.
Panel Version: 1.76
Created: 6 Aug 2024, 5:10 a.m.
Last Modified: 6 Aug 2024, 5:10 a.m.
Panel version: 1.76

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Is the phenotype(s) severe and onset <18yo? YES. CLCNKB mutations cause Bartter syndrome type 3 also called classic Bartter syndrome with renal salt wasting, hypokalemia, metabolic alkalosis, polyuria, polydipsia, and failure to thrive. It typically manifests in early childhood but late childhood or adulthood onset cases have been reported. Classic Bartter syndrome has a heterogeneous presentation from severe to very mild (PMIDs: 25810436, 24965226)

There is also a digenic inheritance known for this gene with variants in CLCNKA causing Bartter syndrome type 4b.
Created: 28 Jul 2024, 11:17 p.m. | Last Modified: 28 Jul 2024, 11:17 p.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 3 MIM#607364; Bartter syndrome, type 4b, digenic MIM#613090

Publications

Created: 28 Jul 2024, 11:17 p.m.
Last Modified: 28 Jul 2024, 11:17 p.m.
Panel version: 1.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 4b, digenic, 613090 (3)
Tags
for review
OMIM
602023
Clinvar variants
Variants in CLCNKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2024, Gel status: 3

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: CLCNKB.

6 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: clcnkb has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CLCNKB were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLCNKB was added gene: CLCNKB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, 613090 (3)