Catecholaminergic polymorphic VT
Gene: CALM1
Comment on phenotypes: This gene is also associated with Long QT syndrome 14 (616247)Created: 2 Mar 2021, 1 p.m. | Last Modified: 2 Mar 2021, 1 p.m.
Panel Version: 2.8
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 18 Nov 2019, 2:57 p.m. | Last Modified: 18 Nov 2019, 2:57 p.m.
Panel Version: 1.25
Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).Created: 25 Mar 2019, 4:30 p.m.
Literature evidence -see PMID Refs (including functional). PMID: 23040497. PMID:28491771. PMID: 23388215Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Gene on Royal Brompton diagnostic panel. Small number of pathogenic variants detected in our lab. Definitive association with CPVTCreated: 19 Mar 2019, 4:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CPVT; LQTS 14
Gene currently tested on Manchester cardiac gene panel. 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, imprinted status unknown
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
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Comment on mode of inheritance: Source: OMIM.Created: 18 Jul 2016, 3:13 p.m.
Comment on list classification: Expert review green and is a current diagnostic. Was found in 2/4 original sources plus an additional published diagnostic panel.Created: 18 Jul 2016, 3:12 p.m.
On the Inherited Cardiac Condition Genes panel for Catecholaminergic polymorphic ventricular tachycardia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.Created: 19 Feb 2016, 11:34 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CALM1 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) to Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916
Phenotypes for gene: CALM1 were changed from Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia to Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
Phenotypes for gene: CALM1 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia to Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia
Source South West GLH was added to CALM1. Mode of inheritance for gene CALM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to CALM1.
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 27761157; 19121813 Rating Changed from Green List (high evidence) to Green List (high evidence)
22.07.2016: Panel revised according to reviews and further evidence. Confirmed the final panel with Karen McGuire at the Oxford Medical Genetics Laboratory prior to promoting to version 1.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CALM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
CALM1 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: UKGTN
CALM1 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list
CALM1 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list