Short QT syndrome
Gene: GPD1L
Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 13 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome (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 2 (611777)
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 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 GPD1L. Added phenotypes Brugada syndrome 2 (611777) for gene: GPD1L Publications for gene GPD1L were changed from to 30420954; 19862833; 16301704
Sarah Leigh: Not associated with Short QT p
gene: GPD1L was added gene: GPD1L was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7) Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown