Description
Brugada syndrome eligibility statement:

Relevant diseases:
- Brugada syndrome

Brugada inclusion criteria (clinical diagnosis) (29319)
Brugada syndrome diagnosed according to criteria*:  
- ST segment elevation with type I morphology>= 2 mm in >= 1 lead among the right precordial leads V1,V2 positioned in the 2nd, 3rd, or 4th intercostal space occurring spontaneously.  

OR - a type I ECG morphology as above following a provocative drug test with intravenous administration of Class I antiarrhythmic drugs. 

AND one or more of the three criteria below: 
a family history of: 
- premature sudden death (<40 years old) or autopsy negative sudden death <65 years old: the sudden arrhythmic death syndrome (SADS)  

AND/OR  
- other relatives with a diagnosis of BrS (spontaneous or drug-induced; symptomatic or asymptomatic)  

AND/OR - survivor of cardiac arrest with a spontaneous type I ECG pattern (constant or intermittent), to be recruited as a trio with parents who have been tested for BrS with normal results 
  
* 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.

Brugada exclusion criteria (unclear diagnosis) (29319)
- Unclear diagnosis or history suggestive of a non-genetic cause
- Any Brugada syndrome mutation positive (if clearly pathogenic)

Prior genetic testing guidance (29319)
- 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.

Brugada prior genetic testing genes (29319)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
SCN5A

Closing statement (29319)
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

  • Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

23 Entities

23 reviewed, 9 green

List Entity Reviews Mode of inheritance Details
23 Entitiess
Green Green List (high evidence)
CACNB2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brugada syndrome 4
Tags
Green Green List (high evidence)
GPD1L
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 2
Tags
Green Green List (high evidence)
HCN4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 8
Tags
Green Green List (high evidence)
KCNE3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 6
Tags
Green Green List (high evidence)
SCN10A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Oxford Medical Genetics Laboratory
Tags
Green Green List (high evidence)
SCN1B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 5
Tags
Green Green List (high evidence)
SCN3B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 7
Tags
Green Green List (high evidence)
SCN5A
3 reviews
1 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
  • Brugada syndrome 1
Tags
Green Green List (high evidence)
TRPM4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
ABCC9
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Brugada syndrome
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
ANK2
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
CACNA1C
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brugada syndrome 3
Tags
Red Red List (low evidence)
CACNA2D1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
CAV3
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
DLG1
2 reviews
1 red
Not set
Sources
  • Expert Review Removed
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
KCND3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
KCNE5
2 reviews
1 red
Not set
Sources
  • Expert Review Removed
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
KCNH2
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
KCNJ8
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
PKP2
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Brugada syndrome
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Red Red List (low evidence)
RANGRF
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
SCN2B
2 reviews
1 red
Not set
Sources
  • Expert Review Removed
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
SLMAP
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags

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