Hypertrophic cardiomyopathy - teen and adult

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 11 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Atrial fibrillation, familial, 3 (607554); Long QT syndrome 1 (192500) and others
Created: 25 Mar 2019, 4:30 p.m.
Arrhythmia gene
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Hypertrophic cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Created: 19 Feb 2016, 11:53 a.m.

Publications

  • 24183960
  • doi:10.​1007/​s12265-016-9673-5

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Long QT syndrome
  • Short QT syndrome
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNQ1 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KCNQ1 was created by ellenmcdonagh