Short QT syndrome
Gene: KCNE1
Gene currently tested by alternative panel, very few short QT referrals to date. 49 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no association with Short QT syndrome, moderate association with Jervell and Lange-Nielsen syndrome 2 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Jervell and Lange-Nielsen syndrome 2 (612347); Long QT syndrome-5 (613695)
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 Emory Genetics Laboratory's Long and Short QT SyndromesSequencing Panel.Created: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were changed from Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695
Source North West GLH was added to KCNE1. Added phenotypes Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) for gene: KCNE1 Publications for gene KCNE1 were changed from to 16301704; 26168993
Sarah Leigh: Not associated with Short QT p
gene: KCNE1 was added gene: KCNE1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal