Long QT syndromeGene: KCNE3
?Brugada syndrome 6 (OMIM 613119)
Created: 25 Mar 2019, 4:30 p.m.
No evidence for LQT - ? some evidence assoc with Brugada. PMID:19122847. PMID: 22987075. PMID 19306396.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Variants in this GENE are reported as part of current diagnostic practice
Comment on publications: PMID: 19306396 - two missense variants reported, identified in a screen of 485 Japanese LQTS probands: "One mutation, p.R99lambdaH was identified in a 76-year-old woman who suffered torsades de pointes (TdP) after administration of disopyramide. Another mutation, p.T4A was identified in a 16-year-old boy and 67-year-old woman. Although the boy carried another KCNH2 mutation, he was asymptomatic. On the other hand, the woman suffered from hypokalemia-induced TdP."
Created: 15 Mar 2017, 3:09 p.m.
On the Inherited Cardiac Condition Genes panel for Long QT syndrome 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 = 2.
Created: 19 Feb 2016, 11:15 a.m.
Source South West GLH was added to KCNE3.
Publications for KCNE3 were set to 19306396; doi:10.1007/s12265-016-9673-5; 19306396
Publications for KCNE3 were set to 19306396; doi:10.1007/s12265-016-9673-5
KCNE3 was created by ellenmcdonagh
KCNE3 was added to Long QT syndromepanel. Sources: Literature