Short QT syndrome
Gene: AKAP9
Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 39 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with LQT 1 and 11 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Long QT syndrome-11 (611820)
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 Emory Genetics Laboratory's Long and Short QT SyndromesSequencing PanelCreated: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Source North West GLH was added to AKAP9. Added phenotypes Long QT syndrome-11 (611820) for gene: AKAP9 Publications for gene AKAP9 were changed from to 30420954; 19862833; 16301704
Sarah Leigh: Not associated with Short QT p
gene: AKAP9 was added gene: AKAP9 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKAP9 were set to ?Long QT syndrome-11 611820