Description
Dilated Cardiomyopathy and conduction defects (11027) Eligibility Criteria:

Relevant diseases: 
- Dilated cardiomyopathy 
- Dilated cardiomyopathy and conduction defects 

Cardiomyopathies inclusion criteria:
- 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:
- Unclear diagnosis or history suggestive of a non-genetic cause 

Prior genetic testing guidance:
- 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 and conduction defects prior genetic testing genes:
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: LMNA

12 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

  • Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • James Eden (Manchester)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Rebecca Whittington (South West GLH)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

84 Entities

84 reviewed, 37 green

List Entity Reviews Mode of inheritance Details
84 Entitiess
Green Green List (high evidence)
ABCC9
5 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiomyopathy, dilated, 1O
  • Cardiomyopathy, dilated, 1O (608569)
  • Atrial fibrillation, familial, 12 (614050)
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
ACTC1
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Atrial septal defect 5 (612794)
  • Cardiomyopathy, hypertrophic, 11 (612098)
  • Cardiomyopathy, dilated, 1R
  • Left ventricular noncompaction 4 (613424)
  • Cardiomyopathy, dilated, 1R (613424)
Tags
Green Green List (high evidence)
ACTN2
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1AA, with or without LVNC (612158)
  • Dilated Cardiomyopathy, Dominant
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
Tags
Green Green List (high evidence)
BAG3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1HH
Tags
Green Green List (high evidence)
CSRP3
5 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1M
  • Cardiomyopathy, hypertrophic, 12 (612124)
  • ?Cardiomyopathy, dilated, 1M (607482)
Tags
Green Green List (high evidence)
DES
5 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
  • Cardiomyopathy, dilated, 1I,
  • Cardiomyopathy, dilated, 1I, (604765)
  • Myopathy, myofibrillar, 1 (601419)
Tags
Green Green List (high evidence)
DMD
3 reviews
2 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
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 3B
  • Dilated Cardiomyopathy, X-Linked
Tags
Green Green List (high evidence)
DSP
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Dilated cardiomyopathy with woolly hair and keratoderma
Tags
Green Green List (high evidence)
EPG5
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
EYA4
6 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • ?Cardiomyopathy, dilated, 1J (605362)
  • Deafness, autosomal dominant 10 (601316)
  • Cardiomyopathy, dilated, 1J
Tags
Green Green List (high evidence)
FKTN
5 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiomyopathy, dilated, 1X
  • Dilated Cardiomyopathy, Recessive
Tags
Green Green List (high evidence)
HAMP
3 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hemochromatosis, type 2B 613313
Tags
Green Green List (high evidence)
HFE
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hemochromatosis 235200
Tags
Green Green List (high evidence)
HFE2
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • new-gene-name
Green Green List (high evidence)
IDH2
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • D-2-hydroxyglutaric aciduria 2 613657
Tags
Green Green List (high evidence)
LDB3
4 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated 1C
Tags
Green Green List (high evidence)
LMNA
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350)
  • Lipodystrophy, familial partial, type 2 (151660)
  • Malouf syndrome (212112)
  • Mandibuloacral dysplasia (248370)
  • Cardiomyopathy, dilated, 1A (115200)
  • Muscular dystrophy, congenital (613205)
  • Hutchinson-Gilford progeria (176670)
  • Heart-hand syndrome, Slovenian type (610140)
  • Cardiomyopathy, dilated, 1A
  • Charcot-Marie-Tooth disease, type 2B1 (605588)
  • Restrictive dermopathy, lethal (275210)
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
Tags
Green Green List (high evidence)
MYBPC3
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 4 (115197)
  • Left ventricular noncompaction 10 (615396)
  • Cardiomyopathy, dilated, 1MM
  • Cardiomyopathy, dilated, 1MM (615396)
Tags
Green Green List (high evidence)
MYH6
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1EE (613252)
  • Atrial septal defect 3 (614089)
  • {Sick sinus syndrome 3} (614090)
  • Cardiomyopathy, hypertrophic, 14 (613251)
  • Cardiomyopathy, dilated, 1EE
Tags
Green Green List (high evidence)
MYH7
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Left ventricular noncompaction 5 (613426)
  • Myopathy, myosin storage, autosomal dominant (608358)
  • Laing distal myopathy (160500)
  • Myopathy, myosin storage, autosomal recessive (255160)
  • Cardiomyopathy, hypertrophic, 1 (192600)
  • Cardiomyopathy, dilated, 1S (613426)
  • Cardiomyopathy, dilated, 1S
  • Scapuloperoneal syndrome, myopathic type (181430)
Tags
Green Green List (high evidence)
NEXN
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 20 (613876)
  • Cardiomyopathy, dilated, 1CC (613122)
  • Cardiomyopathy, dilated, 1CC
Tags
Green Green List (high evidence)
PLN
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1P
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, hypertrophic, 18 (613874)
Tags
Green Green List (high evidence)
PPP1R13L
5 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • cardio-cutaneous syndrome
  • sudden cardiac death
Tags
Green Green List (high evidence)
RAB3GAP2
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • 212720
  • 614225
Tags
Green Green List (high evidence)
RBM20
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1DD
  • Cardiomyopathy, dilated, 1DD (613172)
Tags
Green Green List (high evidence)
SCN5A
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1E
Tags
Green Green List (high evidence)
SGCD
5 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiomyopathy, dilated, 1L
  • Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287)
  • Cardiomyopathy, dilated, 1L (606685)
Tags
Green Green List (high evidence)
SLC40A1
3 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hemochromatosis, type 4 606069
Tags
Green Green List (high evidence)
TAZ
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, X-Linked
Tags
Green Green List (high evidence)
TCAP
5 reviews
1 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1N
  • Cardiomyopathy, hypertrophic, 25 (607487)
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Tags
Green Green List (high evidence)
TFR2
3 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hemochromatosis, type 3 604250
Tags
Green Green List (high evidence)
TNNC1
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1Z
  • Cardiomyopathy, dilated, 1Z (611879)
  • Cardiomyopathy, hypertrophic, 13 (613243)
Tags
Green Green List (high evidence)
TNNI3
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1FF (613286)
  • Cardiomyopathy, dilated, 1FF
  • Cardiomyopathy, dilated, 2A,
  • Cardiomyopathy, familial restrictive, 1 (115210)
  • Cardiomyopathy, hypertrophic, 7 (613690)
  • ?Cardiomyopathy, dilated, 2A (611880)
Tags
Green Green List (high evidence)
TNNT2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial restrictive, 3 (612422)
  • Cardiomyopathy, hypertrophic, 2 (115195)
  • Left ventricular noncompaction 6 (601494)
  • Cardiomyopathy, dilated, 1D (601494)
  • Cardiomyopathy, dilated, 1D
Tags
Green Green List (high evidence)
TPM1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Left ventricular noncompaction 9 ( 611878)
  • Cardiomyopathy, hypertrophic, 3 (115196)
  • Cardiomyopathy, dilated, 1Y
  • Cardiomyopathy, dilated, 1Y (611878)
Tags
Green Green List (high evidence)
TTN
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Tibial muscular dystrophy, tardive (600334)
  • Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
  • Cardiomyopathy, dilated, 1G
  • Cardiomyopathy, familial hypertrophic, 9 (613765)
  • Salih myopathy (611705)
  • Myopathy, proximal, with early respiratory muscle involvement (603689)
  • Cardiomyopathy, dilated, 1G (604145)
Tags
Green Green List (high evidence)
VCL
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1W (611407)
  • Cardiomyopathy, hypertrophic, 15 (613255)
  • Cardiomyopathy, dilated, 1W
Tags
Amber Amber List (moderate evidence)
ANKRD1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Amber Amber List (moderate evidence)
CRYAB
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1II,
Tags
Amber Amber List (moderate evidence)
FLNC
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Oxford Medical Genetics Laboratory
  • South West GLH
  • Wessex and West Midlands GLH
Tags
Amber Amber List (moderate evidence)
GATAD1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 2B
Tags
Amber Amber List (moderate evidence)
MYPN
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1KK
Tags
Amber Amber List (moderate evidence)
PSEN1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1U
Tags
Amber Amber List (moderate evidence)
PSEN2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1V
Tags
Amber Amber List (moderate evidence)
SCN1B
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiac conduction defect, nonspecific
  • Nonspecific Cardiac Conduction Defect
Tags
Red Red List (low evidence)
ACTA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • South West GLH
Phenotypes
  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
ALMS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy
Tags
Red Red List (low evidence)
CAVIN4
3 reviews
Unknown
Sources
  • Literature
  • South West GLH
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
CTF1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • South West GLH
Tags
Red Red List (low evidence)
DMPK
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic DCM
Tags
Red Red List (low evidence)
DNAJC19
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • South West GLH
Phenotypes
  • dilated cardiomyopathy with ataxia syndrome
Tags
Red Red List (low evidence)
DOLK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic DCM
Tags
Red Red List (low evidence)
DSC2
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • London South GLH
  • South West GLH
Tags
Red Red List (low evidence)
DSG2
4 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1BB,
Tags
Red Red List (low evidence)
EMD
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
FHL1
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
FHL2
2 reviews
2 red
Not set
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
GLA
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
ILK
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
JUP
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • London South GLH
  • South West GLH
Tags
Red Red List (low evidence)
LAMA4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
LAMP2
4 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • London South GLH
  • South West GLH
Tags
Red Red List (low evidence)
MPO
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Tags
Red Red List (low evidence)
MYL2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
MYL3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
NEBL
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
NKX2-5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Tags
Red Red List (low evidence)
NPPA
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • South West GLH
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
PDLIM3
2 reviews
Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
PKP2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
PRDM16
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1LL
Tags
Red Red List (low evidence)
PRKAG2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
RAF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
Tags
Red Red List (low evidence)
RYR2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • UKGTN
Phenotypes
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
Tags
Red Red List (low evidence)
SDHA
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1GG
Tags
Red Red List (low evidence)
SGCB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • South West GLH
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
SYNE1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
SYNE2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic DCM
Tags
Red Red List (low evidence)
TBX20
1 review
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
TMEM43
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
TMPO
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Dilated Cardiomyopathy, Dominant
  • Dilated Cardiomyopathy, Dominant
Tags
Red Red List (low evidence)
TTR
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
TXNRD2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
XK
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic DCM
Tags

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