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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 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Some evidence for digenic inheritance with CLCNKA, but also just AR inheritance.

Can present antenatally with polyhydramnios
Created: 27 Nov 2019, 10:01 a.m. | Last Modified: 1 Dec 2021, 10:42 p.m.
Panel Version: 0.883

Mode of inheritance
Other

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
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 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090

1 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLCNKB were set to

1 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B