Description
This panel is used for clinical indication 'R132 Dilated cardiomyopathy - teen and adult' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R132 Dilated cardiomyopathy - teen and adult'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel is intended for adult onset, non-syndromic cardiomyopathy. Participants recruited under the age of 18 will be offered additional panels (including mitochondrial disorders and RASopathies) to capture potential syndromic disease.

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    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: Genomics England

  • 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

81 Entities

81 reviewed, 37 green

List Entity Reviews Mode of inheritance Details
81 Entitiess
Green Green List (high evidence)
ABCC9
2 reviews
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
  • 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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1X
  • Dilated Cardiomyopathy, Recessive
Tags
Green Green List (high evidence)
HAMP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 2B 613313
Tags
Green Green List (high evidence)
HFE
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hemochromatosis 235200
Tags
Green Green List (high evidence)
HFE2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • new-gene-name
Green Green List (high evidence)
IDH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • D-2-hydroxyglutaric aciduria 2 613657
Tags
Green Green List (high evidence)
LDB3
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
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1MM
Tags
Green Green List (high evidence)
MYH6
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
  • Cardiomyopathy, dilated, 1EE
Tags
Green Green List (high evidence)
MYH7
2 reviews
1 green
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
  • 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 Review Green
  • Expert list
  • 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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1P
Tags
Green Green List (high evidence)
PPP1R13L
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • cardio-cutaneous syndrome
  • sudden cardiac death
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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
Amber Amber List (moderate evidence)
SCN1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiac conduction defect, nonspecific
  • Nonspecific Cardiac Conduction Defect
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
Not set
Sources
  • Expert list
Phenotypes
  • syndromic DCM
Tags
Red Red List (low evidence)
DNAJC19
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • dilated cardiomyopathy with ataxia syndrome
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 Review Red
  • Expert list
  • 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)
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
1 green
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
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)
NKX2-5
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
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
  • Expert Review Red
  • 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 Review Red
  • Expert list
  • 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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