Short QT syndrome
Gene: KCNE3
Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 8 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no association with Short QT syndrome, disputed association with Brugada syndrome 1 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Brugada syndrome 6 (613119)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Not associated with Short QT phenotype in OMIM or in Gen2Phen. Listed on the Long QT syndrome panel (Version 1.5) and on the Brugada syndrome panel (Version 1.7).Created: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source North West GLH was added to KCNE3. Added phenotypes ?Brugada syndrome 6 (613119) for gene: KCNE3 Publications for gene KCNE3 were changed from to 16301704
Sarah Leigh: Not associated with Short QT p
gene: KCNE3 was added gene: KCNE3 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7) Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown