Long QT syndrome

Gene: CALM3

Green List (high evidence)

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

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)

I don't know

Rebecca Whittington (South West GLH)

I don't know

No links to phenotypes on OMIM
Created: 25 Mar 2019, 4:30 p.m.
Literature evidence that de novo variant found in patient with severe LQT (PMID25460178) . Also, some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see 27516456
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

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, 11:09 a.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
OMIM
114183
Clinvar variants
Variants in CALM3
Penetrance
Complete
Panels with this gene

History Filter Activity

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)

18 Nov 2019, Gel status: 2

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

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

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

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 Long QT syndromepanel. 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