Long QT syndrome
Gene: CALM2
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: 1.47
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, 2:09 p.m. | Last Modified: 18 Nov 2019, 2:09 p.m.
Panel Version: 1.44
On CGGL Royal Brompton Panel. Associated with LQTS and CPVT. Should be here forCreated: 18 Sep 2019, 9:13 p.m. | Last Modified: 18 Sep 2019, 9:13 p.m.
Panel Version: 1.38
Phenotypes
OMIM 616249 Long QT syndrome 15
Publications
Variants in this GENE are reported as part of current diagnostic practice
Long QT syndrome 15 (OMIM 616249)Created: 25 Mar 2019, 4:30 p.m.
Literature evidence -see PMID: 24917665. PMID:26969752. PMID 23388215.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 to promote this gene from Red to Amber on this panel.Created: 4 Mar 2019, 9:05 p.m.
Not on the Inherited Cardiac Condition Genes panel 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.Created: 19 Feb 2016, 11:08 a.m.
Phenotypes for gene: CALM2 were changed from Long QT syndrome 15 to Long QT syndrome 15, OMIM:616249; long QT syndrome 15, MONDO:0014550
Publications for gene: CALM2 were set to
Source Expert Review Green was added to CALM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: calm2 has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to CALM2.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for CALM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for CALM2 were set to Long QT syndrome 15
This gene has been classified as Red List (Low Evidence).
CALM2 was added to Long QT syndromepanel. Sources: Oxford Medical Genetics Laboratory
CALM2 was created by OxfordGenetics