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  3. CLCNKB
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Renal Tubulopathies and related disorders

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Digenic inheritance where deletions encompassing both CLCNKA and CLCNKB also reported.
Created: 26 Apr 2022, 5:04 a.m. | Last Modified: 26 Apr 2022, 5:04 a.m.
Panel Version: 0.13320

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Created: 26 Apr 2022, 5:04 a.m.
Last Modified: 26 Apr 2022, 5:04 a.m.
Panel version: Imported from Hypomagnesaemia panel version Imported from Mendeliome panel version 0.13320

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Digenic inheritance where deletions encompassing both CLCNKA and CLCNKB also reported.
Created: 9 Feb 2021, 9:51 a.m. | Last Modified: 9 Feb 2021, 9:51 a.m.
Panel Version: 0.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 9 Feb 2021, 9:51 a.m.
Last Modified: 9 Feb 2021, 9:51 a.m.
Panel version: Imported from Bartter Syndrome panel version 0.14

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-reported to cause Bartter syndrome type 3.
Hypomagnesaemia reported in patients (OMIM; PMID: 31834604)
Created: 9 Apr 2020, 6:15 a.m. | Last Modified: 9 Apr 2020, 6:25 a.m.
Panel Version: 0.11
Well-reported to cause Bartter syndrome type 3.
Hypomagnesaemia reported in patients (OMIM)
Sources: Expert Review
Created: 9 Apr 2020, 6:14 a.m. | Last Modified: 9 Apr 2020, 6:20 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 3 (MIM#607364)

Publications

Created: 9 Apr 2020, 6:14 a.m.
Last Modified: 9 Apr 2020, 6:25 a.m.
Panel version: Imported from Hypomagnesaemia panel version 0.10

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Nephrocalcinosis reported in Bartter
Sources: Literature
Created: 16 Jan 2020, 5:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 3; OMIM #607364

Created: 16 Jan 2020, 5:07 a.m.

Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 3, MIM# 607364
  • Bartter syndrome, type 4b, digenic, MIM# 613090
OMIM
602023
Clinvar variants
Variants in CLCNKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLCNKB was added gene: CLCNKB was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCNKB were set to 18310267; 15044642; 9326936 Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 3, MIM# 607364; Bartter syndrome, type 4b, digenic, MIM# 613090