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  2. Hydrops fetalis
  3. KCNQ1
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Hydrops fetalis

Gene: KCNQ1

Red List (low evidence)
KCNQ1 (potassium voltage-gated channel subfamily Q member 1)
EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Can present antenatally with bradycardia, but no specific mention of hydrops.
Sources: Expert Review
Created: 10 Sep 2021, 4:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 1, 192500

Publications

Created: 10 Sep 2021, 4:27 a.m.

Panel version: 0.206

History Filter Activity

10 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq1 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: KCNQ1 was added gene: KCNQ1 was added to Hydrops fetalis. Sources: Expert Review Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNQ1 were set to 27539165 Phenotypes for gene: KCNQ1 were set to Long QT syndrome 1, 192500 Review for gene: KCNQ1 was set to RED