Catecholaminergic polymorphic VT

Gene: CASQ2

Green List (high evidence)

CASQ2 (calsequestrin 2)
EnsemblGeneIds (GRCh38): ENSG00000118729
EnsemblGeneIds (GRCh37): ENSG00000118729
OMIM: 114251, Gene2Phenotype
CASQ2 is in 5 panels

7 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, 2:58 p.m. | Last Modified: 18 Nov 2019, 2:58 p.m.
Panel Version: 1.25

Rebecca Whittington (South West GLH)

Green List (high evidence)

Ventricular tachycardia, catecholaminergic polymorphic, 2 (OMIM 611938)
Created: 25 Mar 2019, 4:30 p.m.
Literature evidence (inc cosegregation, functional). PMID:27157848. PMID:29178653. PMID: 21618644
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

Green List (high evidence)

Gene on Royal Brompton diagnostic panel. Only (heterozygous) VUS detected so far in our lab. Good literature evidence for AR disease.
Created: 19 Mar 2019, 4:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 12 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with autosomal recessive CPVT2 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)

Publications

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

Teofila (Tootie) Bueser (King's College Hospital and Guy's & St Thomas' Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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 when marking as ready: Two green reviews, from 3/4 sources and on another published diagnostic panel. Mode of inheritance confirmed in OMIM and by reviewer.
Created: 18 Jul 2016, 3:07 p.m.
On the Inherited Cardiac Condition Genes panel for Catecholaminergic polymorphic ventricular tachycardia 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, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 21.
Created: 19 Feb 2016, 11:31 a.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
  • Ventricular tachycardia, catecholaminergic polymorphic, 2
OMIM
114251
Clinvar variants
Variants in CASQ2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CASQ2 were set to 27761157; 19121813

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CASQ2.

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CASQ2.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to CASQ2. Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938) for gene: CASQ2 Publications for gene CASQ2 were changed from to 27761157; 19121813 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.

18 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).

18 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).

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CASQ2 was changed to BIALLELIC, autosomal or pseudoautosomal

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CASQ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CASQ2 was changed to BIALLELIC, autosomal or pseudoautosomal

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CASQ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CASQ2 was changed to BIALLELIC, autosomal or pseudoautosomal

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CASQ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CASQ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN