Description
For patients recruited under the Idiopathic ventricular fibrillation disease category, the following additional gene panels will also be applied: 

- Long QT syndrome (https://panelapp.genomicsengland.co.uk/panels/76/)
- Brugada syndrome (https://panelapp.genomicsengland.co.uk/panels/13/)
- Catecholaminergic Polymorphic Ventricular Tachycardia (https://panelapp.genomicsengland.co.uk/panels/214/)
- Arrhythmogenic Right Ventricular Cardiomyopathy (https://panelapp.genomicsengland.co.uk/panels/134/)


Idiopathic ventricular fibrillation eligibility statement:

Idiopathic ventricular fibrillation inclusion criteria (42162) 

Proband with unexplained documented VF cardiac arrest despite comprehensive clinical evaluation 

PLUS EITHER 

A. Juvenile sporadic VF (Age 1-18 years). Recruitment should be as trios. 

OR 

B. Idiopathic VF aged 1-45 years with family history of idiopathic VF or SADS in a first, second or third degree relative. In category B, 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. 

Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease. 

Idiopathic ventricular fibrillation exclusion criteria (42162) 
Age of disease <1 or >45y in proband or qualifying relative, OR Known inherited arrhythmogenic disorder identified on clinical evaluation 

Prior genetic testing guidance (42162) 
- 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.

Idiopathic ventricular fibrillation prior genetic testing genes (42162) 
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: No genes specified 

Closing statement (42162) 
These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Juan Pablo Kaski (Great Ormond Street Hospital/UCL)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

5 Entities

5 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green Green List (high evidence)
RYR2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CPVT
Amber Amber List (moderate evidence)
SCN5A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ventricular fibrillation, familial, 1, 603829
  • Ventricular fibrillation, familial, 1,
  • Paroxysmal Familial Ventricular Fibrillation
Red Red List (low evidence)
DPP6
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Ventricular fibrillation, paroxysmal familial, 2,
Red Red List (low evidence)
KCNE5
1 review
1 red
Unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Expert Review Red
Phenotypes
  • Idiopathic ventricular fibrillation
Red Red List (low evidence)
KCNJ8
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • ?Ventricular fibrillation

Major version comments

Downloads

Download lists

Download Version