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  2. Hydrops fetalis
  3. CLCNKB
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Hydrops fetalis

Gene: CLCNKB

Red List (low 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)

Red List (low evidence)

Typically Bartter syndrome presents with polyhydramnios antenatally, single case report of hydrops identified.
Sources: Expert list
Created: 30 Dec 2019, 2:01 a.m. | Last Modified: 22 Aug 2020, 5:41 a.m.
Panel Version: 0.174

Mode of inheritance
Other

Phenotypes
Bartter syndrome, type 4b, digenic, MIM#613090

Publications

Created: 30 Dec 2019, 2:01 a.m.
Last Modified: 22 Aug 2020, 5:41 a.m.
Panel version: 0.174

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bartter syndrome, type 4b, digenic, MIM#613090
OMIM
602023
Clinvar variants
Variants in CLCNKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLCNKB were set to

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clcnkb has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 1

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 Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: CLCNKB was set to Other Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, MIM#613090 Review for gene: CLCNKB was set to RED