Catecholaminergic polymorphic VT

Gene: CALM3

Green List (high evidence)

CALM3 (calmodulin 3)
EnsemblGeneIds (GRCh38): ENSG00000160014
EnsemblGeneIds (GRCh37): ENSG00000160014
OMIM: 114183, Gene2Phenotype
CALM3 is in 3 panels

5 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: 1.27

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, 3:09 p.m. | Last Modified: 18 Nov 2019, 3:09 p.m.
Panel Version: 1.25

Rebecca Whittington (South West GLH)

I don't know

No links to phenotypes on OMIM
Created: 25 Mar 2019, 4:30 p.m.
Some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see ref: PMID:27516456
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: This gene-disease was discussed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, and it was confirmed that this should be promoted from Red to Amber.
Created: 4 Mar 2019, 9:13 p.m.
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 list classification: Gene added by reviewer and rated red, therefore added to the panel as red. Not associated with CPVT in OMIM.
Created: 18 Jul 2016, 3:19 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
OMIM
114183
Clinvar variants
Variants in CALM3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to CALM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Oct 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: CALM3 were set to

4 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: calm3 has been classified as Amber List (Moderate Evidence).

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CALM3. Mode of inheritance for gene CALM3 was changed from to Unknown

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CALM3.

22 Jul 2016, Gel status: 1

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.

18 Jul 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).

18 Jul 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)

CALM3 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)

CALM3 was created by OxfordGenetics