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  2. Hydrops fetalis
  3. CLCNKA
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Hydrops fetalis

Gene: CLCNKA

Red List (low evidence)
CLCNKA (chloride voltage-gated channel Ka)
EnsemblGeneIds (GRCh38): ENSG00000186510
EnsemblGeneIds (GRCh37): ENSG00000186510
OMIM: 602024, Gene2Phenotype
CLCNKA is in 4 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 found.
Sources: Expert list
Created: 30 Dec 2019, 2:02 a.m. | Last Modified: 22 Aug 2020, 5:40 a.m.
Panel Version: 0.173

Mode of inheritance
Other

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

Publications

Created: 30 Dec 2019, 2:02 a.m.
Last Modified: 22 Aug 2020, 5:40 a.m.
Panel version: 0.173

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bartter syndrome, type 4b, digenic, MIM#613090
OMIM
602024
Clinvar variants
Variants in CLCNKA
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: CLCNKA were set to

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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