Description
Eligibility statement for Dilated Cardiomyopathy (31340): 

Cardiomyopathies inclusion criteria (31341)
- 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 (31341)
- Unclear diagnosis or history suggestive of a non-genetic cause

Prior genetic testing guidance (31341)
- 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.

Dilated Cardiomyopathy prior genetic testing genes (31341)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
ABCC9, ACTC1, CSRP3, LMNA, MYH7, PLN, TNNI3, TNNT2, TPM1, TTN, RBM20

Closing statement (31341)
These requirements will be kept under continual review during the main programme and may be subject to change.
Panel Activity

7 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

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

75 Entities

75 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
75 Entitiess
Green Green List (high evidence)
ABCC9
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1O
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
ACTC1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1R
Tags
Green Green List (high evidence)
ACTN2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
BAG3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1HH
Tags
Green Green List (high evidence)
CSRP3
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1M
Tags
Green Green List (high evidence)
DES
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1I,
Tags
Green Green List (high evidence)
DMD
1 review
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 list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 3B
  • Dilated Cardiomyopathy, X-Linked
Tags
Green Green List (high evidence)
DSP
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dilated cardiomyopathy with woolly hair and keratoderma
Tags
Green Green List (high evidence)
EPG5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
EYA4
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1J
Tags
Green Green List (high evidence)
FKTN
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1X
  • Dilated Cardiomyopathy, Recessive
Tags
Green Green List (high evidence)
LDB3
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated 1C
Tags
Green Green List (high evidence)
LMNA
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1A
Tags
Green Green List (high evidence)
MYBPC3
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1MM
  • Dilated cardiomyopathy
  • Left ventricular non-compaction
Tags
Green Green List (high evidence)
MYH6
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1EE
Tags
Green Green List (high evidence)
MYH7
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1S
Tags
Green Green List (high evidence)
NEXN
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1CC
Tags
Green Green List (high evidence)
PLN
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1P
Tags
Green Green List (high evidence)
RAB3GAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • 212720
  • 614225
Tags
Green Green List (high evidence)
RBM20
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1DD
Tags
Green Green List (high evidence)
SCN5A
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1E
Tags
Green Green List (high evidence)
SGCD
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1L
Tags
Green Green List (high evidence)
SLC40A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 4 606069
Tags
Green Green List (high evidence)
TAZ
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
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dilated Cardiomyopathy, X-Linked
Tags
Green Green List (high evidence)
TCAP
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1N
Tags
Green Green List (high evidence)
TFR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 3 604250
Tags
Green Green List (high evidence)
TNNC1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1Z
Tags
Green Green List (high evidence)
TNNI3
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 2A,
  • Cardiomyopathy, dilated, 1FF
Tags
Green Green List (high evidence)
TNNT2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1D
Tags
Green Green List (high evidence)
TPM1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1Y
Tags
Green Green List (high evidence)
TTN
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1G
Tags
Green Green List (high evidence)
VCL
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1W
Tags
Amber Amber List (moderate evidence)
ANKRD1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Amber Amber List (moderate evidence)
CRYAB
2 reviews
1 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1II,
Tags
Amber Amber List (moderate evidence)
GATAD1
2 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 2B
Tags
Amber Amber List (moderate evidence)
MYPN
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1KK
Tags
Amber Amber List (moderate evidence)
PSEN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1U
Tags
Amber Amber List (moderate evidence)
PSEN2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1V
Tags
Red Red List (low evidence)
ACTA1
1 review
 Unknown
Sources
  • Literature
Phenotypes
  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
CAVIN4
2 reviews
 Unknown
Sources
  • Literature
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
CTF1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Tags
Red Red List (low evidence)
DMPK
1 review
1 red 		Not set
Sources
  • Expert list
Phenotypes
  • syndromic DCM
Tags
Red Red List (low evidence)
DNAJC19
1 review
 Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
DOLK
1 review
 Not set
Sources
  • Expert list
Phenotypes
  • syndromic DCM
Tags
Red Red List (low evidence)
DSC2
1 review
1 red 		Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
DSG2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1BB,
Tags
Red Red List (low evidence)
EMD
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
Tags
Red Red List (low evidence)
FHL1
1 review
1 red 		Not set
Sources
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
FHL2
1 review
1 red 		Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
FLNC
1 review
1 red 		Not set
Sources
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
GLA
1 review
1 red 		Not set
Sources
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
HFE
1 review
 Not set
Sources
  • Expert list
Phenotypes
  • syndromic DCM
Tags
Red Red List (low evidence)
ILK
1 review
 Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
JUP
1 review
1 red 		Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
LAMA4
1 review
 Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
Tags
Red Red List (low evidence)
LAMP2
2 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Tags
Red Red List (low evidence)
MPO
1 review
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1T, 613740
Tags
Red Red List (low evidence)
MYL2
1 review
1 red 		Not set
Sources
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
MYL3
1 review
1 red 		Not set
Sources
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
NEBL
1 review
 Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
Tags
Red Red List (low evidence)
NPPA
1 review
 Unknown
Sources
  • Literature
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
PDLIM3
1 review
 Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
Tags
Red Red List (low evidence)
PKP2
1 review
1 red 		Not set
Sources
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
PRDM16
1 review
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1LL
Tags
Red Red List (low evidence)
PRKAG2
1 review
1 red 		Not set
Sources
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
RYR2
1 review
1 red 		Not set
Sources
  • UKGTN
Phenotypes
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
Tags
Red Red List (low evidence)
SDHA
1 review
 Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1GG
Tags
Red Red List (low evidence)
SGCB
1 review
 Unknown
Sources
  • Literature
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
SYNE1
1 review
 Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
SYNE2
1 review
 Not set
Sources
  • Expert list
Phenotypes
  • syndromic DCM
Tags
Red Red List (low evidence)
TMEM43
1 review
1 red 		Not set
Sources
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
TMPO
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Red Red List (low evidence)
TTR
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TXNRD2
1 review
 Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
XK
1 review
 Not set
Sources
  • Expert list
Phenotypes
  • syndromic DCM
Tags

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