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Catecholaminergic polymorphic VT
Gene: CALM2

CALM2 (calmodulin 2)
EnsemblGeneIds (GRCh38): ENSG00000143933
EnsemblGeneIds (GRCh37): ENSG00000143933
OMIM: 114182, Gene2Phenotype
CALM2 is in 3 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene is also associated with Long QT syndrome 15, 616249
Created: 2 Mar 2021, 1:01 p.m. | Last Modified: 2 Mar 2021, 1:01 p.m.

Panel Version: 2.10

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

Created: 18 Nov 2019, 2:57 p.m.
Last Modified: 18 Nov 2019, 2:57 p.m.
Panel version: 1.25

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton Panel. Associated with LQTS, but overlapping phenotypic features with CPVT.
Created: 18 Sep 2019, 1:44 p.m. | Last Modified: 18 Sep 2019, 1:44 p.m.

Panel Version: 1.20

Phenotypes
Long QT syndrome 15

Publications

24917665

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

Created: 18 Sep 2019, 1:44 p.m.
Last Modified: 18 Sep 2019, 1:44 p.m.
Panel version: 1.20

Rebecca Whittington (South West GLH)

Green List (high evidence)

Long QT syndrome 15 (OMIM 616249). Overlapping phenotype with CPVT
Created: 25 Mar 2019, 4:30 p.m.

Literature evidence -see refs. PMID: 24917665. PMID:26969752. PMID: 23388215.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.13

Ellen McDonagh (Genomics England Curator)

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 and the publications provided.
Created: 20 Jul 2016, 3:09 p.m.

Comment on list classification: Promoted from red to green due to green expert review and evidence from 3 seperate publications.
Created: 20 Jul 2016, 3 p.m.

Created: 20 Jul 2016, 3 p.m.

Panel version: 1.8

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Created: 6 Jan 2016, 5:29 p.m.

Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

South West GLH
London South GLH
Expert Review Green

Phenotypes

Long QT syndrome 15, OMIM:616249
long QT syndrome 15, MONDO:0014550

OMIM

114182

Clinvar variants

Variants in CALM2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

15 Nov 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CALM2 were changed from catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 to Long QT syndrome 15, OMIM:616249; long QT syndrome 15, MONDO:0014550

15 Nov 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CALM2 were set to 27114410; 27100291; 24917665

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CALM2 were changed from Long QT syndrome 15, 616249 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990

24 Sep 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CALM2 were changed from Long QT syndrome 15 to Long QT syndrome 15, 616249

21 Feb 2019, Gel status: 4