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  2. Hydrops fetalis
  3. KCNH2
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Hydrops fetalis

Gene: KCNH2

Red List (low evidence)
KCNH2 (potassium voltage-gated channel subfamily H member 2)
EnsemblGeneIds (GRCh38): ENSG00000055118
EnsemblGeneIds (GRCh37): ENSG00000055118
OMIM: 152427, Gene2Phenotype
KCNH2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case report identified of presentation with hydrops.
Sources: Expert Review
Created: 10 Sep 2021, 4:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
long QT syndrome

Publications

Created: 10 Sep 2021, 4:25 a.m.

Panel version: 0.205

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • long QT syndrome
OMIM
152427
Clinvar variants
Variants in KCNH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnh2 has been classified as Red List (Low Evidence).

10 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNH2 was added gene: KCNH2 was added to Hydrops fetalis. Sources: Expert Review Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNH2 were set to 27492745 Phenotypes for gene: KCNH2 were set to long QT syndrome Review for gene: KCNH2 was set to RED