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Long QT syndrome
Gene: CALM2

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

6 reviews

Kate Thomson (Oxford University Hospitals Foundation Trust)

Green List (high evidence)

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

Created: 9 Dec 2019, 1:19 p.m.
Last Modified: 9 Dec 2019, 1:19 p.m.
Panel version: 1.47

Ivone Leong (Genomics England Curator)

I don't know

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

Created: 18 Nov 2019, 2:09 p.m.
Last Modified: 18 Nov 2019, 2:09 p.m.
Panel version: 1.44

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

Green List (high evidence)

On CGGL Royal Brompton Panel. Associated with LQTS and CPVT. Should be here for
Created: 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

Created: 18 Sep 2019, 9:13 p.m.
Last Modified: 18 Sep 2019, 9:13 p.m.
Panel version: 1.38

Rebecca Whittington (South West GLH)

I don't know

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

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

Panel version: 1.26

Ellen McDonagh (Genomics England Curator)

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.

Created: 19 Feb 2016, 11:08 a.m.

Panel version: 0.18

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

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

Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
South West GLH

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 Long QT syndrome 15 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

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to CALM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Mar 2019, Gel status: 2