Catecholaminergic polymorphic VTGene: KCNE1
Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)
Created: 25 Mar 2019, 4:30 p.m.
No evidence for this gene assoc with CPVT.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
On the Inherited Cardiac Condition Genes panel for Catecholaminergic polymorphic ventricular tachycardia 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, 11:33 a.m.
Source South West GLH was added to KCNE1. Mode of inheritance for gene KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
22.07.2016: Panel revised according to reviews and further evidence. Confirmed the final panel with Karen McGuire at the Oxford Medical Genetics Laboratory prior to promoting to version 1.
KCNE1 was created by ellenmcdonagh
KCNE1 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Literature