Description
Eligibility statement for Arrhythmogenic Right Ventricular Cardiomyopathy (11025):

Relevant diseases:

- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Dilated cardiomyopathy
- Dilated cardiomyopathy and conduction defects

Cardiomyopathies inclusion criteria (Plural) (29339)
- Patients with a clear diagnosis and at least one affected relative , OR
- Patients with no family history who have a clear diagnosis of primary hypertrophic cardiomyopathy under 40 years of age

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.

Cardiomyopathies exclusion criteria (29339)
- Unclear diagnosis or history suggestive of a non-genetic cause

Prior genetic testing guidance (29339)
- 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.

Arrhythmogenic Right Ventricular Cardiomyopathy prior genetic testing genes (29339)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
 - ARVC 
- PKP2
- DSP 
- DSG2 
- DSC2

Closing statement (29339)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Bill Newman (Manchester Centre for Genomic Medicine)

    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

15 genes

15 reviewed, 9 green

List Gene Reviews Mode of inheritance Details
15 genes
Green Green List (high evidence)
DES
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
Green Green List (high evidence)
DSC2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
Green Green List (high evidence)
DSG2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10
Green Green List (high evidence)
DSP
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8
Green Green List (high evidence)
JUP
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12
Green Green List (high evidence)
PKP2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9
  • Arrhythmogenic right ventricular cardiomyopathy
Green Green List (high evidence)
PLN
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Green Green List (high evidence)
RYR2
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2
Green Green List (high evidence)
TMEM43
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5
Red Red List (low evidence)
CTNNA3
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 13,
Red Red List (low evidence)
LDB3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
LMNA
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
  • Expert list
Red Red List (low evidence)
SCN5A
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Long QT syndrome
  • Brugada syndrome
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
Red Red List (low evidence)
TGFB3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 1
Red Red List (low evidence)
TTN
3 reviews
2 red
Not set
Sources
  • Expert list
  • Expert Review Red

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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