Catecholaminergic polymorphic VT

Gene: CALM1

Green List (high evidence)

Comment on phenotypes: This gene is also associated with Long QT syndrome 14 (616247)

Created: 2 Mar 2021, 1 p.m. | Last Modified: 2 Mar 2021, 1 p.m.

Panel Version: 2.8

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

Green List (high evidence)

Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).

Created: 25 Mar 2019, 4:30 p.m.

Literature evidence -see PMID Refs (including functional). PMID: 23040497. PMID:28491771. 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

Green List (high evidence)

Gene on Royal Brompton diagnostic panel. Small number of pathogenic variants detected in our lab. Definitive association with CPVT

Created: 19 Mar 2019, 4:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CPVT; LQTS 14

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 12 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).

Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)

Publications

• 19121813
• 27761157

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.

Created: 18 Jul 2016, 3:13 p.m.

Comment on list classification: Expert review green and is a current diagnostic. Was found in 2/4 original sources plus an additional published diagnostic panel.

Created: 18 Jul 2016, 3:12 p.m.

On the Inherited Cardiac Condition Genes panel for Catecholaminergic polymorphic ventricular tachycardia 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, 11:34 a.m.

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice