Catecholaminergic polymorphic VT
Gene: CASQ2
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
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: 21618644Created: 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
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938); Ventricular tachycardia, catecholaminergic polymorphic, 2 to Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938
Publications for gene: CASQ2 were set to 27761157; 19121813
Source South West GLH was added to CASQ2.
Source London South GLH was added to CASQ2.
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)
22.07.2016: 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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene CASQ2 was changed to BIALLELIC, autosomal or pseudoautosomal
CASQ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN
Model of inheritance for gene CASQ2 was changed to BIALLELIC, autosomal or pseudoautosomal
CASQ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN
Model of inheritance for gene CASQ2 was changed to BIALLELIC, autosomal or pseudoautosomal
CASQ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN
CASQ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN