Long QT syndrome

Gene: CALM2

Amber List (moderate evidence)

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

5 reviews

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

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

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

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.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Long QT syndrome 15
OMIM
114182
Clinvar variants
Variants in CALM2
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: calm2 has been classified as Amber List (Moderate Evidence).

21 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CALM2.

4 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Mar 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CALM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Mar 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CALM2 were set to Long QT syndrome 15

4 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jan 2016, Gel status: 0

Added New Source

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

CALM2 was added to Long QT syndromepanel. Sources: Oxford Medical Genetics Laboratory

6 Jan 2016, Gel status: 0

Created

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

CALM2 was created by OxfordGenetics