Short QT syndrome
Gene: KCNJ5
Gene currently tested by alternative panel, very few short QT referrals to date. 16 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Long QT syndrome 13 (613485); Hyperaldosteronism, familial, type III (613677)
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).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 KCNJ5. Added phenotypes Hyperaldosteronism, familial, type III (613677); Long QT syndrome 13 (613485) for gene: KCNJ5 Publications for gene KCNJ5 were changed from to 30420954; 19862833; 16301704
Sarah Leigh: Not associated with Short QT p
gene: KCNJ5 was added gene: KCNJ5 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5) Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted