Hypertrophic cardiomyopathy - teen and adultGene: KCNQ1
Atrial fibrillation, familial, 3 (607554); Long QT syndrome 1 (192500) and others
Created: 25 Mar 2019, 4:30 p.m.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
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
KCNQ1 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature
KCNQ1 was created by ellenmcdonagh