Short QT syndromeGene: KCNE5
Comment on publications: PMID 29350269: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome. PMID 30289750: "Kcne5 knockout ( Kcne5-/0) mice have ventricular premature beats, increased susceptibility to induction of polymorphic ventricular tachycardia (60 vs. 24% in Kcne5+/0 mice), and 10% shorter ventricular refractory period. The findings represent the first reported native role for Kcne5 and the first demonstrated Kcne regulation of KV2.1 in mouse heart. Increased KV current is a manifestation of KCNE5 disruption that is most likely common to both mouse and human hearts, providing a plausible mechanistic basis for human KCNE5-linked."
Created: 15 Nov 2018, 12:43 p.m.
Not associated with Short QT phenotype in OMIM or in Gen2Phen, listed on the Brugada syndrome panel (Version 1.7).
Created: 15 Nov 2018, 12:10 p.m.
Sarah Leigh: Not associated with Short QT p
Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome
Publications for gene: KCNE5 were set to
gene: KCNE5 was added gene: KCNE5 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7) Mode of inheritance for gene: KCNE5 was set to