Description
Eligibility statement for Hypertrophic Cardiomyopathy (11028):

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.

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Ian Berry (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • 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

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

67 genes

67 reviewed, 16 green

List Gene Reviews Mode of inheritance Details
67 genes
Green Green List (high evidence)
ACTC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 11
  • Hypertrophic Cardiomyopathy
Green Green List (high evidence)
CSRP3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 12
Green Green List (high evidence)
FHL1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Green Green List (high evidence)
GLA
2 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
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • syndromic HCM
Green Green List (high evidence)
LAMP2
2 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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • syndromic HCM
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
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 4,
Green Green List (high evidence)
MYH6
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 14
Green Green List (high evidence)
MYH7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 1,
Green Green List (high evidence)
MYL2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 10
Green Green List (high evidence)
MYL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 8,
Green Green List (high evidence)
PLN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 18,
Green Green List (high evidence)
PRKAG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic 6,
  • Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
  • syndromic HCM
Green Green List (high evidence)
TNNC1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 13,
Green Green List (high evidence)
TNNI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 7
Green Green List (high evidence)
TNNT2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 2
Green Green List (high evidence)
TPM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 3
Amber Amber List (moderate evidence)
ACTN2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Amber Amber List (moderate evidence)
JPH2
2 reviews
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic 17,
Tags
  • watchlist
Amber Amber List (moderate evidence)
MYLK2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, hypertrophic, midventricular, digenic,
Amber Amber List (moderate evidence)
MYPN
1 review
1 red
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomypathy, familial hypertrophic, 22,
Amber Amber List (moderate evidence)
NEXN
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 20,
Red Red List (low evidence)
ACADVL
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
ACTA1
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
Red Red List (low evidence)
AGL
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
ANKRD1
1 review
1 red
Not set
Sources
  • Expert list
  • UKGTN
Red Red List (low evidence)
ATP5E
2 reviews
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Tags
  • new-gene-name
Red Red List (low evidence)
BRAF
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
CACNA1C
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Long QT syndrome
  • Brugada syndrome
Red Red List (low evidence)
CALR3
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 19
Red Red List (low evidence)
CASQ2
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Left ventricular non-compaction
  • Catecholaminergic polymorphic ventricular tachycardia
Red Red List (low evidence)
CAV3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic,
Red Red List (low evidence)
COA5
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
CRYAB
1 review
1 red
Unknown
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • "Myopathy, myofibrillar, fatal infantile hypertrophy, alpha ‐ B crystallin ‐ related, 613869"
Red Red List (low evidence)
DES
1 review
Not set
Sources
  • Expert list
Red Red List (low evidence)
FLNC
1 review
1 red
Not set
Sources
Red Red List (low evidence)
FOXRED1
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
FXN
2 reviews
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
GAA
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
GLB1
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
GUSB
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
HRAS
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
KCNQ1
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Long QT syndrome
  • Short QT syndrome
Red Red List (low evidence)
KLF10
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
Red Red List (low evidence)
LDB3
1 review
Not set
Sources
  • Expert list
Red Red List (low evidence)
LMNA
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
Red Red List (low evidence)
MAP2K1
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
MAP2K2
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
MRPL3
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
MYO6
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
Red Red List (low evidence)
MYOM1
1 review
Not set
Sources
  • Expert list
Red Red List (low evidence)
MYOZ2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 16,
Red Red List (low evidence)
NRAS
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
PDLIM3
1 review
Not set
Sources
  • Expert list
Red Red List (low evidence)
PTPN11
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
RAF1
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
SCO2
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
SHOC2
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
SLC25A3
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mitochondrial phosphate carrier deficiency, 610773
Red Red List (low evidence)
SLC25A4
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
Red Red List (low evidence)
SOS1
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
TCAP
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Red Red List (low evidence)
TMEM70
1 review
Not set
Sources
  • Expert list
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
TRIM63
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
Red Red List (low evidence)
TSFM
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 3 610505
Red Red List (low evidence)
TTN
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 9,
Red Red List (low evidence)
TTR
1 review
1 red
Not set
Sources
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • syndromic HCM
Red Red List (low evidence)
VCL
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 15,

1 STR

1 reviewed, 0 green

List STR Reviews Mode of inheritance Details
1 STRs
Red Red List (low evidence)
FXN_GAA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR

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