Long QT syndrome
Gene: CALM1
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
Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).Created: 25 Mar 2019, 4:30 p.m.
Evidence associated with CPVT primarily. Reported de novo variant in 6 year old boy (PMID: 28491771) with LQT but phenotype not clear (need clinical input). Other paper with strong de novo CALM1 variant in child with LQT and cardiac arrest (PMID:27374306). PMID 23388215.Created: 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
On CGGL Royal Brompton LQTS panel, but low evidence for this (although some evidence for de novo variant assoc. with LQTS/VT phenotype). Definitive for CPVT. Happy with Amber on LQTS panelCreated: 19 Mar 2019, 4:47 p.m. | Last Modified: 18 Sep 2019, 9:08 p.m.
Panel Version: 1.38
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.
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.
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: Due to the reviewer's comment, this gene was added as red until further evidence arises.Created: 4 Mar 2016, 4:15 p.m.
On the Inherited Cardiac Condition Genes panel for Long QT syndrome 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, 11:08 a.m.
Most pathogenic variants are detected in individuals with CPVT. Oxford cohort have de novo variants in CALM1 in individuals with a cross over phenotype LQT or VT.Created: 25 Jan 2019, 12:41 p.m.
Low evidence for Long QT syndrome. More evidence for its association with CPVT.Created: 3 Mar 2016, 9:43 a.m.
Source Expert Review Green was added to CALM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: calm1 has been classified as Amber List (Moderate Evidence).
Gene: calm1 has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to CALM1.
Source London South GLH was added to CALM1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for CALM1 were set to Long QT syndrome 14; Ventricular tachycardia, catecholaminergic polymorphic, 4
Phenotypes for CALM1 were set to Long QT syndrome 14
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for CALM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CALM1 was created by OxfordGenetics
CALM1 was added to Long QT syndromepanel. Sources: Oxford Medical Genetics Laboratory