Short QT syndrome
Gene: CALM1
Gene currently tested by alternative panel, very few short QT referrals to date. 12 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 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source North West GLH was added to CALM1. Added phenotypes Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) for gene: CALM1 Publications for gene CALM1 were changed from to 30420954; 19862833; 16301704
Sarah Leigh: Not associated with Short QT p
gene: CALM1 was added gene: CALM1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted