Catecholaminergic polymorphic VT

Gene: CASQ2

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

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

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

• 16908766

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

• 19121813
• 27761157

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

Green List (high evidence)

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