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  3. KCNQ1
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Cardiac arrhythmias - previous panel

Gene: KCNQ1

Green List (high evidence)
KCNQ1 (potassium voltage-gated channel subfamily Q member 1)
EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 9 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Short QT-interval syndrome
  • Idiopathic Ventricular Fibrillation
  • Short QT syndrome 2 609621
  • Long QT syndrome-1
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against the component panels, and ready to be promoted to version 1.

17 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Long QT syndrome-1 for gene: KCNQ1

17 Dec 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KCNQ1 was added gene: KCNQ1 was added to Cardiac arrythmias. Sources: Expert Review Green Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KCNQ1 were set to 15159330; 26346102; 29697308; 25974115; 26168993; 16109388 Phenotypes for gene: KCNQ1 were set to Short QT-interval syndrome; Idiopathic Ventricular Fibrillation; Short QT syndrome 2 609621