Description
Catecholaminergic Polymorphic Ventricular Tachycardia (11024) eligibility statement:

Relevant diseases:

- Catecholaminergic polymorphic ventricular tachycardia (CPVT)

Catecholaminergic Polymorphic Ventricular Tachycardia inclusion criteria (29337)
CPVT diagnosed according to criteria*:

- In the presence of a structurally normal heart, normal ECG, and unexplained exercise or catecholamine induced bidirectional VT or polymorphic ventricular premature beats (VPBs) or VT in an individual younger than 40 years. 

OR

- In the presence of a structurally normal heart and coronary arteries, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT or polymorphic VPBs or VT in an individual older than 40 years.

AND either one of the two criteria below:

- A family history for CPVT with other affected family DNA and phenotype available (at least three over three generations) for linkage studies. 

OR

- Trio of unaffected parents and severely affected child available (sporadic or recessive)


* Heart Rhythm Society/European Heart Rhythm Association

Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Catecholaminergic Polymorphic Ventricular Tachycardia exclusion criteria (29337)
- Unclear diagnosis or history suggestive of a non-genetic cause
- Any CPVT mutation positive (if clearly pathogenic)

Prior genetic testing guidance (29337)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Catecholaminergic Polymorphic Ventricular Tachycardia prior genetic testing genes (29337)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
 CPVT, RYR2

Closing statement (29337)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

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

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

9 Entities

9 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
9 Entitiess
Green Green List (high evidence)
CALM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 4
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Green Green List (high evidence)
CALM2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 15
Tags
Green Green List (high evidence)
CASQ2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2
Tags
Green Green List (high evidence)
RYR2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1
  • catecholaminergic polymorphic ventricular tachycardia
  • Catecholaminergic polymorphic ventricular tachycardia
Tags
Green Green List (high evidence)
TRDN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Red Red List (low evidence)
ANK2
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Red Red List (low evidence)
CALM3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
KCNE1
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome
Tags
Red Red List (low evidence)
KCNJ2
2 reviews
1 red
Not set
Sources
  • Expert list
  • UKGTN
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia
Tags

Major version comments

Downloads

Download lists

Download Version