Dilated and arrhythmogenic cardiomyopathy (Version 2.22)

The latest signed off version for the GMS is v2.8. The current version, shown here, may differ from the signed-off version.

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service. The panel will routinely be applied for clinical indication 'R132 Dilated and arrhythmogenic cardiomyopathy' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 and arrhythmogenic cardiomyopathy'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel is also a constituent panel of the super panel 'Sudden cardiac death'. Changes made to this panel will automatically be updated in the relevant super panel(s).

Panel Activity

19 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Bill Newman (Manchester Centre for Genomic Medicine)

Group: other
Workplace: other
Kate Thomson (Oxford University Hospitals Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Caroline Wright (Genomics England Curator)

Group: Other
Workplace: Genomics England
Sarah Leigh (Genomics England Curator)

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

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Detlef Bockenhauer (GOSH-UCL)

Group: GeCIP domain
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
James Eden (Manchester)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Rebecca Whittington (South West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Aleš Maver (Clinical Institute of Medical Genetics)

Group: Other
Workplace: Other diagnostic lab
Hannah Robinson (South West Genomic Laboratory Hub)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Oliver Watkinson (NHS)

Group: Other NHS organisation
Workplace: NHS clinical service
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

63 Entities

63 reviewed, 32 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 63 Entitiess
Green Green List (high evidence)	ACTC1	7 reviews 3 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 Cardiomyopathy, hypertrophic, 11 (612098) Left ventricular noncompaction 4 (613424) Cardiomyopathy, dilated, 1R (613424) Cardiomyopathy, dilated, 1R Atrial septal defect 5 (612794) Tags
Green Green List (high evidence)	ACTN2	8 reviews 3 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, hypertrophic, 23, with or without LVNC (612158) Cardiomyopathy, dilated, 1AA, with or without LVNC (612158) Dilated Cardiomyopathy, Dominant Tags
Green Green List (high evidence)	BAG3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Cardiomyopathy, dilated, 1HH, 613881 Myopathy, myofibrillar, 6, 612954 Tags
Green Green List (high evidence)	CDH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	DES	8 reviews 4 green 2 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 Phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type (181400) Myopathy, myofibrillar, 1 (601419) Cardiomyopathy, dilated, 1I, (604765) Cardiomyopathy, dilated, 1I, Tags
Green Green List (high evidence)	DMD	2 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 Expert Review Green Literature NHS GMS Phenotypes Becker muscular dystrophy, 300376 Cardiomyopathy, dilated, 3B, 302045 Duchenne muscular dystrophy, 310200 Tags Skewed X-inactivation
Green Green List (high evidence)	DOLK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	DSC2	7 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green London South GLH North West GLH South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476) Arrhythmogenic right ventricular dysplasia 11 Arrhythmogenic right ventricular dysplasia 11 (610476) Tags
Green Green List (high evidence)	DSG2	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH North West GLH South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 10 Arrhythmogenic right ventricular dysplasia 10 (610193) Cardiomyopathy, dilated, 1BB (612877) Tags
Green Green List (high evidence)	DSP	8 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green London South GLH North West GLH 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)	EMD	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	FLNC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS 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
Green Green List (high evidence)	JUP	7 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green London South GLH North West GLH South West GLH Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 Tags
Green Green List (high evidence)	LAMP2	2 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 Expert Review Green Literature NHS GMS Phenotypes Danon disease (300257) Tags
Green Green List (high evidence)	LMNA	8 reviews 5 green 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 London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Muscular dystrophy, congenital (613205) Malouf syndrome (212112) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350) Heart-hand syndrome, Slovenian type (610140) Hutchinson-Gilford progeria (176670) Cardiomyopathy, dilated, 1A (115200) Restrictive dermopathy, lethal (275210) Lipodystrophy, familial partial, type 2 (151660) Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516) Charcot-Marie-Tooth disease, type 2B1 (605588) Mandibuloacral dysplasia (248370) Cardiomyopathy, dilated, 1A Tags
Green Green List (high evidence)	MYBPC3	7 reviews 2 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 Cardiomyopathy, dilated, 1MM Cardiomyopathy, hypertrophic, 4 (115197) Left ventricular noncompaction 10 (615396) Cardiomyopathy, dilated, 1MM (615396) Tags
Green Green List (high evidence)	MYH7	8 reviews 5 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 Laing distal myopathy, OMIM:160500 Laing early-onset distal myopathy, MONDO:0008050 Tags watchlist_moi
Green Green List (high evidence)	NEXN	8 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)	NKX2-5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	PKP2	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH North West GLH South West GLH Phenotypes Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 9 Arrhythmogenic right ventricular dysplasia 9 (609040) Tags
Green Green List (high evidence)	PLN	8 reviews 5 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, 1P (609909) Cardiomyopathy, dilated, 1P Cardiomyopathy, hypertrophic, 18 (613874) Tags
Green Green List (high evidence)	RBM20	7 reviews 5 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)	RYR2	10 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH South West GLH Wessex and West Midlands GLH Phenotypes Arrhythmogenic right ventricular dysplasia 2 Arrhythmogenic right ventricular dysplasia 2 (600996) Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) Tags
Green Green List (high evidence)	SCN5A	7 reviews 5 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)	TMEM43	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH North West GLH South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 5 Arrhythmogenic right ventricular dysplasia 5 (604400) Emery-Dreifuss muscular dystrophy 7, AD (614302) Tags
Green Green List (high evidence)	TNNC1	7 reviews 3 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, 13 (613243) Cardiomyopathy, dilated, 1Z Cardiomyopathy, dilated, 1Z (611879) Tags
Green Green List (high evidence)	TNNI3	7 reviews 5 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, 2A, ?Cardiomyopathy, dilated, 2A (611880) Cardiomyopathy, familial restrictive, 1 (115210) Cardiomyopathy, dilated, 1FF Cardiomyopathy, hypertrophic, 7 (613690) Tags
Green Green List (high evidence)	TNNI3K	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	TNNT2	7 reviews 5 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, 1D Cardiomyopathy, familial restrictive, 3 (612422) Cardiomyopathy, hypertrophic, 2 (115195) Cardiomyopathy, dilated, 1D (601494) Left ventricular noncompaction 6 (601494) Tags
Green Green List (high evidence)	TPM1	7 reviews 5 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, 1Y Cardiomyopathy, dilated, 1Y (611878) Cardiomyopathy, hypertrophic, 3 (115196) Left ventricular noncompaction 9 ( 611878) Tags
Green Green List (high evidence)	TTN	8 reviews 5 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 Myopathy, proximal, with early respiratory muscle involvement (603689) Cardiomyopathy, familial hypertrophic, 9 (613765) Tibial muscular dystrophy, tardive (600334) Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807) Cardiomyopathy, dilated, 1G (604145) Salih myopathy (611705) Cardiomyopathy, dilated, 1G Tags
Green Green List (high evidence)	VCL	7 reviews 5 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 Cardiomyopathy, dilated, 1W (611407) Cardiomyopathy, hypertrophic, 15 (613255) Tags
Amber Amber List (moderate evidence)	ANK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	ANKRD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	CRYAB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Cardiomyopathy, dilated, 1II, OMIM:615184 Myopathy, myofibrillar, 2, OMIM:608810 Tags
Amber Amber List (moderate evidence)	CSRP3	7 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes ?Cardiomyopathy, dilated, 1M (607482) Cardiomyopathy, dilated, 1M Cardiomyopathy, hypertrophic, 12 (612124) Tags
Amber Amber List (moderate evidence)	FKRP	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	FKTN	7 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 Dilated Cardiomyopathy, Recessive Cardiomyopathy, dilated, 1X Tags
Amber Amber List (moderate evidence)	FLII	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags
Amber Amber List (moderate evidence)	GATA6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	LDB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	MYH6	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, hypertrophic, 14 (613251) Cardiomyopathy, dilated, 1EE (613252) {Sick sinus syndrome 3} (614090) Atrial septal defect 3 (614089) Cardiomyopathy, dilated, 1EE Tags
Amber Amber List (moderate evidence)	MYLK3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags gene-checked
Amber Amber List (moderate evidence)	MYPN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	MYZAP	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags Q2_24_promote_green
Amber Amber List (moderate evidence)	NRAP	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags gene-checked
Amber Amber List (moderate evidence)	PPA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Sudden cardiac failure, infantile, OMIM:617222 ?Sudden cardiac failure, alcohol-induced, OMIM:617223 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	PRDM16	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	RHBDF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags watchlist
Amber Amber List (moderate evidence)	RPL3L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal dilated cardiomyopathy dilated cardiomyopathy, MONDO:0005021 Tags
Amber Amber List (moderate evidence)	RRAGC	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature NHS GMS Phenotypes Dilated cardiomyopathy, hepatopathy and brain abnormalities Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	RRAGD	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature NHS GMS Phenotypes hypomagnesaemia cardiomyopathy tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 Tags
Amber Amber List (moderate evidence)	SGCD	6 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber 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 Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287) Cardiomyopathy, dilated, 1L Cardiomyopathy, dilated, 1L (606685) Tags
Amber Amber List (moderate evidence)	SLC6A6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Early retinal degeneration cardiomyopathy Tags watchlist
Amber Amber List (moderate evidence)	SPEG	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Centronuclear myopathy 5, OMIM:615959 Tags
Amber Amber List (moderate evidence)	TAB2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH NHS GMS Phenotypes Congenital heart defects, nonsyndromic, 2, OMIM:614980 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TBX20	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	TBX5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Holt-Oram syndrome, OMIM:142900 Dilated cardiomyopathy Tags
Amber Amber List (moderate evidence)	TCAP	6 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, hypertrophic, 25 (607487) Cardiomyopathy, dilated, 1N Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) Tags
Red Red List (low evidence)	ABCC9	7 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Red 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 (608569) Dilated Cardiomyopathy, Dominant Cardiomyopathy, dilated, 1O Atrial fibrillation, familial, 12 (614050) Tags
Red Red List (low evidence)	EYA4	7 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red 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) Cardiomyopathy, dilated, 1J Deafness, autosomal dominant 10 (601316) Tags
Red Red List (low evidence)	FHOD3	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Tags
Red Red List (low evidence)	GATAD1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Tags

Major version comments

2022-11-30 14:12 Catherine Snow (Genomics England) promoted panel to 2.0
There have been no changes to green entities on this panel but it is being promoted to the next major version because it is a component of a super panel that is to be re-signed off for the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0)

2019-12-09 14:44 Ivone Leong (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.62) was signed off under NHS Genomic Medicine Service governance on (09/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Dilated and arrhythmogenic cardiomyopathy (Version 2.22)

19 reviewers

63 Entities

63 reviewed, 32 green

7 reviews

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8 reviews

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2 reviews

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8 reviews

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7 reviews

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7 reviews

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8 reviews

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2 reviews

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2 reviews

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7 reviews

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2 reviews

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8 reviews

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7 reviews

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8 reviews

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8 reviews

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1 review

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7 reviews

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