Catecholaminergic polymorphic VT

Gene: CALM2

Green List (high 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)

Green List (high evidence)

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

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

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

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

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.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Long QT syndrome 15, 616249
OMIM
114182
Clinvar variants
Variants in CALM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CALM2. Mode of inheritance for gene CALM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CALM2. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22.07.2016: Panel revised according to reviews and further evidence. Confirmed the final panel with Karen McGuire at the Oxford Medical Genetics Laboratory prior to promoting to version 1.

20 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CALM2 were set to 27114410; 27100291; 24917665

19 Jul 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CALM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 Jul 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CALM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 Jul 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CALM2 were set to Long QT syndrome 15

19 Jul 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

6 Jan 2016, Gel status: 0

Added New Source

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

CALM2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. 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