Long QT syndrome
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: 1.47
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
No links to phenotypes on OMIMCreated: 25 Mar 2019, 4:30 p.m.
Literature evidence that de novo variant found in patient with severe LQT (PMID25460178) . Also, some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see 27516456Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
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, 11:09 a.m.
Phenotypes for gene: CALM3 were changed from to ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782
Source Expert Review Green was added to CALM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
CALM3 was added to Long QT syndromepanel. Sources: Oxford Medical Genetics Laboratory
CALM3 was created by OxfordGenetics