Dilated Cardiomyopathy and conduction defects (Version 1.85)

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

Panel Activity

16 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: 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
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
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
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

85 Entities

85 reviewed, 35 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 85 Entitiess
Green Green List (high evidence)	ABCC9	5 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 list Expert Review Green 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 Skewed X-inactivation
Green Green List (high evidence)	DSP	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) 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 list Expert Review Green 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)	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 list Expert Review Green 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)	LMNA	6 reviews 3 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 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 list Expert Review Green 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 list Expert Review Green 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	7 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, dilated, 1S, OMIM:613426 Dilated cardiomyopathy 1S, MONDO:0013262 Tags watchlist_moi
Green Green List (high evidence)	NEXN	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, dilated, 1CC, OMIM:613122 Tags
Green Green List (high evidence)	PLN	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 cardio-cutaneous syndrome sudden cardiac death Tags
Green Green List (high evidence)	RBM20	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 list Expert Review Green 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)	SPEG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Centronuclear myopathy 5, OMIM:615959 Tags
Green Green List (high evidence)	TAZ	4 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 new-gene-name
Green Green List (high evidence)	TCAP	6 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 list Expert Review Green 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, dilated, 1II, OMIM:615184 Myopathy, myofibrillar, 2, OMIM:608810 Tags
Amber Amber List (moderate evidence)	FKTN	6 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber 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
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 Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289 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)	LDB3	6 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, dilated 1C 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)	PRDM16	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, dilated, 1LL Tags
Amber Amber List (moderate evidence)	PSEN1	3 reviews 2 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiac conduction defect, nonspecific, OMIM:612838 Brugada syndrome 5, OMIM:612838 Atrial fibrillation, familial, 13, OMIM:615377 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	3 reviews 1 red	Other	Sources Expert list South West GLH Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DNAJC19	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red 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 list Expert Review Red 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 Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 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)	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)	RAB3GAP2	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red South West GLH Wessex and West Midlands GLH Phenotypes Martsolf syndrome 1, OMIM:212720 Warburg micro syndrome 2, OMIM:614225 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 list Expert Review Red 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

Dilated Cardiomyopathy and conduction defects (Version 1.85)

16 reviewers

85 Entities

85 reviewed, 35 green

5 reviews

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5 reviews

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4 reviews

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3 reviews

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3 reviews

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4 reviews

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4 reviews

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6 reviews

Sources

Phenotypes

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5 reviews

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Phenotypes

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6 reviews

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Phenotypes

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7 reviews

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Phenotypes

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5 reviews

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Phenotypes

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