Catecholaminergic polymorphic VT
Gene: CALM2
Comment on phenotypes: This gene is also associated with Long QT syndrome 15, 616249Created: 2 Mar 2021, 1:01 p.m. | Last Modified: 2 Mar 2021, 1:01 p.m.
Panel Version: 2.10
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
On CGGL Royal Brompton Panel. Associated with LQTS, but overlapping phenotypic features with CPVT.Created: 18 Sep 2019, 1:44 p.m. | Last Modified: 18 Sep 2019, 1:44 p.m.
Panel Version: 1.20
Phenotypes
Long QT syndrome 15
Publications
Variants in this GENE are reported as part of current diagnostic practice
Long QT syndrome 15 (OMIM 616249). Overlapping phenotype with CPVTCreated: 25 Mar 2019, 4:30 p.m.
Literature evidence -see refs. PMID: 24917665. PMID:26969752. PMID: 23388215.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 and the publications provided.Created: 20 Jul 2016, 3:09 p.m.
Comment on list classification: Promoted from red to green due to green expert review and evidence from 3 seperate publications.Created: 20 Jul 2016, 3 p.m.
Phenotypes for gene: CALM2 were changed from catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 to Long QT syndrome 15, OMIM:616249; long QT syndrome 15, MONDO:0014550
Publications for gene: CALM2 were set to 27114410; 27100291; 24917665
Phenotypes for gene: CALM2 were changed from Long QT syndrome 15, 616249 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Phenotypes for gene: CALM2 were changed from Long QT syndrome 15 to Long QT syndrome 15, 616249
Source South West GLH was added to CALM2. Mode of inheritance for gene CALM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to CALM2. 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).
This gene has been classified as Green List (High Evidence).
Publications for CALM2 were set to 27114410; 27100291; 24917665
Mode of inheritance for CALM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for CALM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for CALM2 were set to Long QT syndrome 15
This proposed gene was validated and added to this panel
CALM2 was created by OxfordGenetics
CALM2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Oxford Medical Genetics Laboratory