Catecholaminergic polymorphic VT
Gene: CALM3
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 1.27
Comment on phenotypes: This gene is also associated with Long QT syndrome 16,618782Created: 2 Mar 2021, 1:01 p.m. | Last Modified: 2 Mar 2021, 1:01 p.m.
Panel Version: 2.11
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 18 Nov 2019, 3:09 p.m. | Last Modified: 18 Nov 2019, 3:09 p.m.
Panel Version: 1.25
No links to phenotypes on OMIMCreated: 25 Mar 2019, 4:30 p.m.
Some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see ref: PMID:27516456Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Comment on list classification: This gene-disease was discussed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, and it was confirmed that this should be promoted from Red to Amber.Created: 4 Mar 2019, 9:13 p.m.
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 list classification: Gene added by reviewer and rated red, therefore added to the panel as red. Not associated with CPVT in OMIM.Created: 18 Jul 2016, 3:19 p.m.
Phenotypes for gene: CALM3 were changed from ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782 to ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782
Phenotypes for gene: CALM3 were changed from to ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782
Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to CALM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: CALM3 were set to
Gene: calm3 has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to CALM3. Mode of inheritance for gene CALM3 was changed from to Unknown
Source London South GLH was added to CALM3.
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 Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
CALM3 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Oxford Medical Genetics Laboratory
CALM3 was created by OxfordGenetics