Description
Eligibility statement for Left Ventricular Noncompaction Cardiomyopathy (15044):

Relevant diseases:

- Left ventricular non-compaction cardiomyopathy
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy

Cardiomyopathies inclusion criteria (29342)
- 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 (29342)
- Unclear diagnosis or history suggestive of a non-genetic cause

Prior genetic testing guidance (29342)
- 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.

Left Ventricular Noncompaction  and Hypertrophic Cardiomyopathy prior genetic testing genes (29342)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
 - MYBPC3, MYH7, TNNT2 and TNNI3

Closing statement (29342)
These requirements will be kept under continual review during the main programme and may be subject to change.
Panel Activity

4 reviewers

  • 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

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ludmila Volozonoka (Children's Clinical University Hospital)

    Group: Other
    Workplace: Other diagnostic lab

17 Entities

17 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
17 Entitiess
Green Green List (high evidence)
ACTC1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 4
  • Left Ventricular Noncompaction Cardiomyopathy
Tags
Green Green List (high evidence)
MYBPC3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 10,
  • Hypertrophic cardiomyopathy
Tags
Green Green List (high evidence)
MYH7
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 5, OMIM:613426
  • Dilated cardiomyopathy 1S, MONDO:0013262
Tags
Green Green List (high evidence)
TAZ
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Left Ventricular Noncompaction Cardiomyopathy
Tags
  • new-gene-name
Green Green List (high evidence)
TNNT2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 6,
  • Hypertrophic cardiomyopathy
Tags
Green Green List (high evidence)
TPM1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 9,
Tags
Red Red List (low evidence)
CASQ2
1 review
 Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
DNAJC19
1 review
 Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
DTNA
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 1, with or without congenital heart defects,
Tags
Red Red List (low evidence)
LDB3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 3, with or without dilated cardiomyopathy
Tags
Red Red List (low evidence)
LMNA
1 review
1 red 		Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
MIB1
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 7
Tags
Red Red List (low evidence)
MYPN
1 review
 Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
PRDM16
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 8
Tags
Red Red List (low evidence)
SDHA
1 review
 Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
TNNI3
1 review
1 red 		Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
No list No list
CASZ1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Pediatric Cardiomyopathy
  • Pediatric LVNC
Tags

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