The latest signed off version for the GMS is v22.7. The current version, shown here, may differ from the signed-off version.

Sudden unexplained death or survivors of a cardiac event (Version 22.54)

Level 2: Cardiology

Relevant disorders: Molecular autopsy, Sudden cardiac death, Sudden cardiac death PILOT, R138, R425
This panel contains these 8 panels:
Hypertrophic cardiomyopathy v5.29
Catecholaminergic polymorphic VT v5.3
Short QT syndrome v3.16
Arrhythmogenic right ventricular cardiomyopathy v3.15
Brugada syndrome and cardiac sodium channel disease v3.14
Long QT syndrome v3.12
Dilated and arrhythmogenic cardiomyopathy v3.11
Progressive cardiac conduction disease v2.13
Panel types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off
Latest signed off version: v22.7 (30 Apr 2025)
Previously signed off versions: v19.73, v19.6, v17.3, v9.78

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 'R138 Molecular autopsy' 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 'R138 Molecular autopsy'. R425 represents a pilot project and is therefore not part of the NHS National Genomic Test Directory. Any queries can be directed to the NHS test evaluation team [email protected].

This panel is a super panel composed of the constituent panel(s) as defined in the link(s) above. Changes made to the constituent panel(s) will automatically be updated in the super panel and the version will be updated.

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 comprised of:
- Long QT syndrome, version 3.10 (https://panelapp.genomicsengland.co.uk/api/v1/panels/76/?version=3.10)
- Catecholaminergic polymorphic VT, version 5.1
(https://panelapp.genomicsengland.co.uk/api/v1/panels/214/?version=5.1)
- Arrhythmogenic right ventricular cardiomyopathy, version 3.13
(https://panelapp.genomicsengland.co.uk/api/v1/panels/134/?version=3.13)
- Brugada syndrome and cardiac sodium channel disease, version 3.12
(https://panelapp.genomicsengland.co.uk/api/v1/panels/13/?version=3.12)
- Hypertrophic cardiomyopathy, version 5.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/49/?version=5.0)
- Short QT syndrome, version 3.14
(https://panelapp.genomicsengland.co.uk/api/v1/panels/224/?version=3.14)
- Dilated and arrhythmogenic cardiomyopathy, version 3.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/652/?version=3.0)
- Progressive cardiac conduction disease, version 2.10
(https://panelapp.genomicsengland.co.uk/api/v1/panels/506/?version=2.10)

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel '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.

One or more of the constituent panels of this super 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

285 Entities

283 reviewed, 101 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 285 Entitiess
Green List (high evidence)	ACTC1 Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Cardiomyopathy, familial hypertrophic, 11 Atrial septal defect 5 (612794) Left ventricular noncompaction 4 (613424) Cardiomyopathy, hypertrophic, 11 (612098) Cardiomyopathy, dilated, 1R (613424) Hypertrophic Cardiomyopathy Tags
Green List (high evidence)	ACTC1 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 11 (612098) Left ventricular noncompaction 4 (613424) Cardiomyopathy, dilated, 1R (613424) Cardiomyopathy, dilated, 1R Atrial septal defect 5 (612794) Tags
Green List (high evidence)	ACTN2 Hypertrophic cardiomyopathy v5.29	7 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH Wessex and West Midlands GLH Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC 612158 Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158 Tags
Green List (high evidence)	ACTN2 Dilated and arrhythmogenic cardiomyopathy v3.11	8 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158) Cardiomyopathy, dilated, 1AA, with or without LVNC (612158) Dilated Cardiomyopathy, Dominant Tags
Green List (high evidence)	ALPK3 Hypertrophic cardiomyopathy v5.29	8 reviews 7 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Cardiomyopathy, familial hypertrophic 27, OMIM:618052 Tags
Green List (high evidence)	BAG3 Dilated and arrhythmogenic cardiomyopathy v3.11	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 List (high evidence)	CACNA1C Long QT syndrome v3.12	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list Phenotypes Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 Long QT syndrome 8, OMIM:618447 long qt syndrome 8, MONDO:0032756 Brugada syndrome 3, OMIM:611875 Brugada syndrome 3, MONDO:0012742 CACNA1C-related disorder Tags
Green List (high evidence)	CACNA1C Hypertrophic cardiomyopathy v5.29	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Literature Phenotypes Hypertrophic cardiomyopathy Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 Long QT syndrome 8, OMIM:618447 long qt syndrome 8, MONDO:0032756 Brugada syndrome 3, OMIM:611875 Brugada syndrome 3, MONDO:0012742 CACNA1C-related disorder Tags
Green List (high evidence)	CACNA1C Short QT syndrome v3.16	9 reviews 4 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources West Midlands, Oxford and Wessex GLH South West GLH London South GLH North West GLH Brugada syndrome (Version 1.7) UKGTN Expert Review Green Long QT syndrome (Version 1.5) Emory Genetics Laboratory Literature Phenotypes Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 Long QT syndrome 8, OMIM:618447 long qt syndrome 8, MONDO:0032756 Brugada syndrome 3, OMIM:611875 Brugada syndrome 3, MONDO:0012742 Short QT CACNA1C-related disorder Tags
Green List (high evidence)	CALM1 Long QT syndrome v3.12	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH Oxford Medical Genetics Laboratory Phenotypes Long QT syndrome 14 Ventricular tachycardia, catecholaminergic polymorphic, 4 Tags
Green List (high evidence)	CALM1 Catecholaminergic polymorphic VT v5.3	6 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916 Tags
Green List (high evidence)	CALM2 Long QT syndrome v3.12	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Oxford Medical Genetics Laboratory Phenotypes Long QT syndrome 15, OMIM:616249 long QT syndrome 15, MONDO:0014550 Tags
Green List (high evidence)	CALM2 Catecholaminergic polymorphic VT v5.3	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Green Oxford Medical Genetics Laboratory Phenotypes Long QT syndrome 15, OMIM:616249 long QT syndrome 15, MONDO:0014550 Tags
Green List (high evidence)	CALM3 Long QT syndrome v3.12	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green South West GLH Oxford Medical Genetics Laboratory Phenotypes ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782 Long QT syndrome 16,618782 Tags
Green List (high evidence)	CALM3 Catecholaminergic polymorphic VT v5.3	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green South West GLH London South GLH Oxford Medical Genetics Laboratory Phenotypes ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782 Tags
Green List (high evidence)	CASQ2 Catecholaminergic polymorphic VT v5.3	7 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938 Tags
Green List (high evidence)	CDH2 Dilated and arrhythmogenic cardiomyopathy v3.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Tags
Green List (high evidence)	CSRP3 Hypertrophic cardiomyopathy v5.29	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH North West GLH Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, hypertrophic, 12 (612124) ?Cardiomyopathy, dilated, 1M (607482) Cardiomyopathy, familial hypertrophic, 12 Tags
Green List (high evidence)	DES Arrhythmogenic right ventricular cardiomyopathy v3.15	8 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert Review Green UKGTN Expert list Phenotypes Cardiomyopathy, dilated, 1I (604765) Myopathy, myofibrillar, 1 (601419) Scapuloperoneal syndrome, neurogenic, Kaeser type (181400) Tags
Green List (high evidence)	DES Dilated and arrhythmogenic cardiomyopathy v3.11	8 reviews 4 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type (181400) Myopathy, myofibrillar, 1 (601419) Cardiomyopathy, dilated, 1I, (604765) Cardiomyopathy, dilated, 1I, Tags
Green List (high evidence)	DES Progressive cardiac conduction disease v2.13	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH Expert list Phenotypes Desminopathy-associated AV conduction block atrioventricular block (disease), MONDO:0000465 Tags
Green List (high evidence)	DMD Dilated and arrhythmogenic cardiomyopathy v3.11	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 List (high evidence)	DOLK Dilated and arrhythmogenic cardiomyopathy v3.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Tags
Green List (high evidence)	DSC2 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green South West GLH London South GLH North 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 List (high evidence)	DSC2 Arrhythmogenic right ventricular cardiomyopathy v3.15	7 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Arrhythmogenic right ventricular dysplasia 11 Arrhythmogenic right ventricular dysplasia 11 (610476) 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) Tags
Green List (high evidence)	DSG2 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green South West GLH London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 10 Arrhythmogenic right ventricular dysplasia 10 (610193) Cardiomyopathy, dilated, 1BB (612877) Tags
Green List (high evidence)	DSG2 Arrhythmogenic right ventricular cardiomyopathy v3.15	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Cardiomyopathy, dilated, 1BB (612877) Arrhythmogenic right ventricular dysplasia 10 Arrhythmogenic right ventricular dysplasia 10 (610193) Tags
Green List (high evidence)	DSP Dilated and arrhythmogenic cardiomyopathy v3.11	8 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green South West GLH London South GLH North 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 List (high evidence)	DSP Arrhythmogenic right ventricular cardiomyopathy v3.15	8 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) Tags
Green List (high evidence)	EMD Progressive cardiac conduction disease v2.13	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green South West GLH Phenotypes Heart conduction disease, MONDO:0000992 Tags
Green List (high evidence)	EMD Dilated and arrhythmogenic cardiomyopathy v3.11	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Tags
Green List (high evidence)	FHL1 Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718) Myopathy, X-linked, with postural muscle atrophy (300696) ?Uruguay faciocardiomusculoskeletal syndrome (300280) Scapuloperoneal myopathy, X-linked dominant (300695) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717) Emery-Dreifuss muscular dystrophy 6, X-linked (300696) Tags
Green List (high evidence)	FHOD3 Hypertrophic cardiomyopathy v5.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045 Tags
Green List (high evidence)	FLNC Dilated and arrhythmogenic cardiomyopathy v3.11	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 List (high evidence)	FLNC Hypertrophic cardiomyopathy v5.29	7 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Wessex and West Midlands GLH Oxford Medical Genetics Laboratory Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Tags
Green List (high evidence)	FLNC Arrhythmogenic right ventricular cardiomyopathy v3.15	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Tags
Green List (high evidence)	GLA Progressive cardiac conduction disease v2.13	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 Expert Review Green NHS GMS Phenotypes Fabry disease, cardiac variant, OMIM:301500 Tags
Green List (high evidence)	GLA Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Fabry disease (301500) syndromic HCM Fabry disease, cardiac variant (301500) Tags
Green List (high evidence)	HCN4 Progressive cardiac conduction disease v2.13	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Phenotypes Sick sinus syndrome 2, OMIM:163800 Tags
Green List (high evidence)	JUP Arrhythmogenic right ventricular cardiomyopathy v3.15	7 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 Tags
Green List (high evidence)	JUP Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green South West GLH London South GLH North West GLH Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 Tags
Green List (high evidence)	KCNE1 Long QT syndrome v3.12	10 reviews 6 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695 Tags
Green List (high evidence)	KCNH2 Short QT syndrome v3.16	7 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources West Midlands, Oxford and Wessex GLH South West GLH London South GLH North West GLH Long QT syndrome (Version 1.5) Brugada syndrome (Version 1.7) Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Literature Phenotypes Brugada Short QT syndrome 1 (609620) ventricular fibrillation cardiac arrest Short QT syndrome 1 609620 Long QT syndrome-2 (613688) short qt atrial fibrillation Tags
Green List (high evidence)	KCNH2 Long QT syndrome v3.12	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short QT syndrome 1 (609620) Long QT syndrome-2 Long QT syndrome-2 (613688) Tags
Green List (high evidence)	KCNJ2 Long QT syndrome v3.12	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list Phenotypes Short QT syndrome 3, OMIM:609622 Short QT syndrome type 3, MONDO:0012314 Atrial fibrillation, familial, 9, OMIM:613980 Atrial fibrillation, familial, 9, MONDO:0013513 Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Tags
Green List (high evidence)	KCNJ2 Short QT syndrome v3.16	7 reviews 4 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources West Midlands, Oxford and Wessex GLH South West GLH London South GLH North West GLH Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Long QT syndrome (Version 1.5) Emory Genetics Laboratory Literature Phenotypes Short QT syndrome 3, OMIM:609622 Short QT syndrome type 3, MONDO:0012314 Atrial fibrillation, familial, 9, OMIM:613980 Atrial fibrillation, familial, 9, MONDO:0013513 Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Tags
Green List (high evidence)	KCNQ1 Long QT syndrome v3.12	8 reviews 6 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Jervell and Lange-Nielsen syndrome (220400) Atrial fibrillation, familial, 3 (607554) Long QT syndrome-1 (192500) Long QT syndrome-1 Short QT syndrome 2 (609621) Tags
Green List (high evidence)	KCNQ1 Short QT syndrome v3.16	9 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources West Midlands, Oxford and Wessex GLH Expert Review Green South West GLH London South GLH North West GLH Radboud University Medical Center, Nijmegen UKGTN Long QT syndrome (Version 1.5) Emory Genetics Laboratory Other Phenotypes Short QT syndrome 2, OMIM:609621 Long QT syndrome-1, OMIM:192500 Atrial fibrillation, familial, 3, OMIM:607554 Tags
Green List (high evidence)	KLHL24 Hypertrophic cardiomyopathy v5.29	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 Tags
Green List (high evidence)	LAMP2 Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Danon disease (300257) syndromic HCM Tags
Green List (high evidence)	LAMP2 Progressive cardiac conduction disease v2.13	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 Expert Review Green NHS GMS Phenotypes Danon disease, 300257 Tags
Green List (high evidence)	LAMP2 Dilated and arrhythmogenic cardiomyopathy v3.11	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 NHS GMS Literature Phenotypes Danon disease (300257) Tags
Green List (high evidence)	LMNA Dilated and arrhythmogenic cardiomyopathy v3.11	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen South West GLH Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH 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 List (high evidence)	LMNA Arrhythmogenic right ventricular cardiomyopathy v3.15	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH UKGTN Expert list Phenotypes LMNA-related DCM Tags
Green List (high evidence)	LMNA Progressive cardiac conduction disease v2.13	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH Expert list Phenotypes Laminopathy-associated AV conduction block atrioventricular block (disease), MONDO:0000465 Tags
Green List (high evidence)	MYBPC3 Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green Eligibility statement prior genetic testing Expert list Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cardiomyopathy, familial hypertrophic, 4, Cardiomyopathy, hypertrophic, 4 (115197) Left ventricular noncompaction 10 (615396) Cardiomyopathy, dilated, 1MM (615396) Tags
Green List (high evidence)	MYBPC3 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1MM Cardiomyopathy, hypertrophic, 4 (115197) Left ventricular noncompaction 10 (615396) Cardiomyopathy, dilated, 1MM (615396) Tags
Green List (high evidence)	MYH7 Dilated and arrhythmogenic cardiomyopathy v3.11	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH 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 List (high evidence)	MYH7 Hypertrophic cardiomyopathy v5.29	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Eligibility statement prior genetic testing Expert list Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cardiomyopathy, hypertrophic, 1, OMIM:192600 Hypertrophic cardiomyopathy 1, MONDO:0008647 Tags watchlist_moi
Green List (high evidence)	MYL2 Hypertrophic cardiomyopathy v5.29	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424 Cardiomyopathy, hypertrophic, 10, OMIM:608758 Tags Q1_26_MOI
Green List (high evidence)	MYL3 Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, familial hypertrophic, 8, Cardiomyopathy, familial hypertrophic, 8 (608751) Tags
Green List (high evidence)	NEXN Dilated and arrhythmogenic cardiomyopathy v3.11	8 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1CC, OMIM:613122 Tags
Green List (high evidence)	NKX2-5 Dilated and arrhythmogenic cardiomyopathy v3.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Tags
Green List (high evidence)	NKX2-5 Progressive cardiac conduction disease v2.13	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH Phenotypes Atrial septal defect 7, with or without AV conduction defects OMIM:108900 Tags
Green List (high evidence)	PKP2 Arrhythmogenic right ventricular cardiomyopathy v3.15	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Eligibility statement prior genetic testing Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 9 Tags
Green List (high evidence)	PKP2 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green South West GLH London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 9 Arrhythmogenic right ventricular dysplasia 9 (609040) Tags
Green List (high evidence)	PLN Arrhythmogenic right ventricular cardiomyopathy v3.15	8 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH Wessex and West Midlands GLH Expert list Phenotypes Cardiomyopathy, dilated, 1P (609909) Cardiomyopathy, hypertrophic, 18 (613874) Tags founder-effect
Green List (high evidence)	PLN Dilated and arrhythmogenic cardiomyopathy v3.11	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1P (609909) Cardiomyopathy, dilated, 1P Cardiomyopathy, hypertrophic, 18 (613874) Tags
Green List (high evidence)	PLN Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, familial hypertrophic, 18, Cardiomyopathy, dilated, 1P (609909) Cardiomyopathy, hypertrophic, 18 (613874) Tags
Green List (high evidence)	PPA2 Dilated and arrhythmogenic cardiomyopathy v3.11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Sudden cardiac failure, infantile, OMIM:617222 ?Sudden cardiac failure, alcohol-induced, OMIM:617223 Tags
Green List (high evidence)	PRDM16 Dilated and arrhythmogenic cardiomyopathy v3.11	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Cardiomyopathy, dilated, 1LL, OMIM:615373 Left ventricular noncompaction 8, OMIM:615373 left ventricular noncompaction 8, MONDO:0014152 Tags
Green List (high evidence)	PRKAG2 Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Wolff-Parkinson-White syndrome (194200) syndromic HCM Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Cardiomyopathy, familial hypertrophic 6, Cardiomyopathy, familial hypertrophic 6 (600858) Glycogen storage disease of heart, lethal congenital (261740) Tags
Green List (high evidence)	PRKAG2 Progressive cardiac conduction disease v2.13	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Expert list Phenotypes Wolff-Parkinson-White syndrome, OMIM:194200 Tags
Green List (high evidence)	RBM20 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1DD Cardiomyopathy, dilated, 1DD (613172) Tags
Green List (high evidence)	RYR2 Catecholaminergic polymorphic VT v5.3	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH London South GLH North West GLH Expert Review Green Eligibility statement prior genetic testing Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772 Tags
Green List (high evidence)	RYR2 Dilated and arrhythmogenic cardiomyopathy v3.11	10 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List South West GLH London South 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 List (high evidence)	SCN5A Brugada syndrome and cardiac sodium channel disease v3.14	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH London South GLH North West GLH Expert Review Green Eligibility statement prior genetic testing Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Brugada syndrome 1, 601144 Brugada syndrome 1, MONDO:0011001 Tags
Green List (high evidence)	SCN5A Progressive cardiac conduction disease v2.13	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH Wessex and West Midlands GLH Expert list Phenotypes Heart block, progressive, OMIM:113900 Heart block, progressive, type IA, OMIM:113900 Tags
Green List (high evidence)	SCN5A Long QT syndrome v3.12	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Eligibility statement prior genetic testing Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ventricular fibrillation, familial, 1 (603829) Brugada syndrome 1 (601144) Heart block, nonprogressive (113900) Heart block, progressive, type IA (113900) {Sudden infant death syndrome, susceptibility to} (272120) Sick sinus syndrome 1 (608567) Long QT syndrome-3 Long QT syndrome-3 (603830) Cardiomyopathy, dilated, 1E (601154) Atrial fibrillation, familial, 10 (614022) Tags
Green List (high evidence)	SCN5A Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1E Tags
Green List (high evidence)	TBX20 Dilated and arrhythmogenic cardiomyopathy v3.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Atrial septal defect 4, OMIM:611363 atrial septal defect 4, MONDO:0012654 Dilated cardiomyopathy, MONDO:0005021 Tags
Green List (high evidence)	TBX20 Hypertrophic cardiomyopathy v5.29	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Atrial septal defect 4, OMIM:611363 atrial septal defect 4, MONDO:0012654 Dilated cardiomyopathy, MONDO:0005021 Tags
Green List (high evidence)	TECRL Catecholaminergic polymorphic VT v5.3	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green South West GLH Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021 Tags
Green List (high evidence)	TMEM43 Arrhythmogenic right ventricular cardiomyopathy v3.15	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Arrhythmogenic right ventricular dysplasia 5 (604400) Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7, AD (614302) Tags
Green List (high evidence)	TMEM43 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green South West GLH London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 5 Arrhythmogenic right ventricular dysplasia 5 (604400) Emery-Dreifuss muscular dystrophy 7, AD (614302) Tags
Green List (high evidence)	TNNC1 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 13 (613243) Cardiomyopathy, dilated, 1Z Cardiomyopathy, dilated, 1Z (611879) Tags
Green List (high evidence)	TNNC1 Hypertrophic cardiomyopathy v5.29	7 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Cardiomyopathy, familial hypertrophic, 13, Cardiomyopathy, dilated, 1Z (611879) Cardiomyopathy, hypertrophic, 13 (613243) Tags
Green List (high evidence)	TNNI3 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH 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 List (high evidence)	TNNI3 Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green Eligibility statement prior genetic testing Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Cardiomyopathy, familial hypertrophic, 7 ?Cardiomyopathy, dilated, 2A (611880) Cardiomyopathy, dilated, 1FF (613286) Cardiomyopathy, familial restrictive, 1 (115210) Cardiomyopathy, hypertrophic, 7 (613690) Tags
Green List (high evidence)	TNNI3K Dilated and arrhythmogenic cardiomyopathy v3.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Tags
Green List (high evidence)	TNNI3K Progressive cardiac conduction disease v2.13	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117 Tags
Green List (high evidence)	TNNT2 Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Eligibility statement prior genetic testing Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Cardiomyopathy, familial restrictive, 3 (612422) Cardiomyopathy, hypertrophic, 2 (115195) Cardiomyopathy, dilated, 1D (601494) Cardiomyopathy, familial hypertrophic, 2 Left ventricular noncompaction 6 (601494) Tags
Green List (high evidence)	TNNT2 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1D Cardiomyopathy, familial restrictive, 3 (612422) Cardiomyopathy, hypertrophic, 2 (115195) Cardiomyopathy, dilated, 1D (601494) Left ventricular noncompaction 6 (601494) Tags
Green List (high evidence)	TPM1 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1Y Cardiomyopathy, dilated, 1Y (611878) Cardiomyopathy, hypertrophic, 3 (115196) Left ventricular noncompaction 9 ( 611878) Tags
Green List (high evidence)	TPM1 Hypertrophic cardiomyopathy v5.29	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Left ventricular noncompaction 9 ( 611878) Cardiomyopathy, hypertrophic, 3 (115196) Cardiomyopathy, familial hypertrophic, 3 Cardiomyopathy, dilated, 1Y (611878) Tags
Green List (high evidence)	TRDN Catecholaminergic polymorphic VT v5.3	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441 Tags
Green List (high evidence)	TRIM63 Hypertrophic cardiomyopathy v5.29	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH Literature Phenotypes Cardiomyopathy, familial hypertrophic, 31, OMIM:621270 cardiomyopathy, familial hypertrophic, 31, MONDO:0979573 Tags
Green List (high evidence)	TTN Dilated and arrhythmogenic cardiomyopathy v3.11	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH 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 List (high evidence)	TTR Progressive cardiac conduction disease v2.13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Heart conduction disease, MONDO:0000992 Tags
Green List (high evidence)	TTR Hypertrophic cardiomyopathy v5.29	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Green Wessex and West Midlands GLH Expert list Emory Genetics Laboratory Phenotypes Cardiac amyloidosis Amyloidosis, hereditary, transthyretin-related, 105210 Tags treatable
Green List (high evidence)	VCL Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1W Cardiomyopathy, dilated, 1W (611407) Cardiomyopathy, hypertrophic, 15 (613255) Tags
Amber List (moderate evidence)	ANK2 Arrhythmogenic right ventricular cardiomyopathy v3.15	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Tags
Amber List (moderate evidence)	ANK2 Dilated and arrhythmogenic cardiomyopathy v3.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber List (moderate evidence)	ANKRD1 Dilated and arrhythmogenic cardiomyopathy v3.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber List (moderate evidence)	ATAD3A Hypertrophic cardiomyopathy v5.29	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Harel-Yoon syndrome, OMIM:617183 Tags watchlist
Amber List (moderate evidence)	CACNA2D1 Short QT syndrome v3.16	7 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber South West GLH London South GLH North West GLH UKGTN Brugada syndrome (Version 1.7) Literature Phenotypes short qt Brugada syndrome aborted sudden death Short QT syndrome 6 Tags watchlist
Amber List (moderate evidence)	CACNB2 Short QT syndrome v3.16	7 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH London South GLH North West GLH Expert Review Amber UKGTN Brugada syndrome (Version 1.7) Literature Phenotypes Brugada syndrome 4 (611876) Short QT syndrome 5 brugada syndrome Brugada syndrome 4 611876 short qt Tags watchlist
Amber List (moderate evidence)	CDH2 Arrhythmogenic right ventricular cardiomyopathy v3.15	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Arrhythmogenic right ventricular dysplasia, familial, 14, 618920 Tags
Amber List (moderate evidence)	CLCA2 Progressive cardiac conduction disease v2.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Heart conduction disease, MONDO:0000992 Tags
Amber List (moderate evidence)	CRYAB Dilated and arrhythmogenic cardiomyopathy v3.11	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 List (moderate evidence)	CSRP3 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes ?Cardiomyopathy, dilated, 1M (607482) Cardiomyopathy, dilated, 1M Cardiomyopathy, hypertrophic, 12 (612124) Tags
Amber List (moderate evidence)	FKRP Dilated and arrhythmogenic cardiomyopathy v3.11	4 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
Amber List (moderate evidence)	FKTN Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Radboud University Medical Center, Nijmegen Wessex and West Midlands GLH Illumina TruGenome Clinical Sequencing Services London South GLH Expert list Emory Genetics Laboratory South West GLH London South GLH Wessex and West Midlands GLH Phenotypes Dilated Cardiomyopathy, Recessive Cardiomyopathy, dilated, 1X Tags
Amber List (moderate evidence)	FLII Dilated and arrhythmogenic cardiomyopathy v3.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags
Amber List (moderate evidence)	GATA6 Dilated and arrhythmogenic cardiomyopathy v3.11	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber List (moderate evidence)	GYG1 Hypertrophic cardiomyopathy v5.29	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Glycogen storage disease XV, OMIM:613507 hypertrophic cardiomyopathy, MONDO:0005045 Tags watchlist
Amber List (moderate evidence)	JPH2 Hypertrophic cardiomyopathy v5.29	11 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS South West GLH London South GLH Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Cardiomyopathy, hypertrophic, 17, OMIM:613873 Tags
Amber List (moderate evidence)	KCNE2 Long QT syndrome v3.12	10 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber South West GLH London South GLH North West GLH Emory Genetics Laboratory Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Long QT syndrome 6 (613693) Atrial fibrillation, familial, 4 (611493) Tags
Amber List (moderate evidence)	KCNH2 Brugada syndrome and cardiac sodium channel disease v3.14	8 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber South West GLH Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags missense
Amber List (moderate evidence)	LDB3 Dilated and arrhythmogenic cardiomyopathy v3.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber List (moderate evidence)	MT-TI Hypertrophic cardiomyopathy v5.29	6 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes familial hypertrophic cardiomyopathy, MONDO:0024573 familial dilated cardiomyopathy, MONDO:0016333 Tags gene-checked locus-type-rna-transfer
Amber List (moderate evidence)	MYH6 Dilated and arrhythmogenic cardiomyopathy v3.11	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 14 (613251) Cardiomyopathy, dilated, 1EE (613252) {Sick sinus syndrome 3} (614090) Atrial septal defect 3 (614089) Cardiomyopathy, dilated, 1EE Tags
Amber List (moderate evidence)	MYLK2 Hypertrophic cardiomyopathy v5.29	6 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, hypertrophic, 1, digenic (192600) Cardiomyopathy, hypertrophic, midventricular, digenic, Tags
Amber List (moderate evidence)	MYLK3 Dilated and arrhythmogenic cardiomyopathy v3.11	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags gene-checked
Amber List (moderate evidence)	MYPN Dilated and arrhythmogenic cardiomyopathy v3.11	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Tags
Amber List (moderate evidence)	MYPN Hypertrophic cardiomyopathy v5.29	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Cardiomypathy, familial hypertrophic, 22, Tags
Amber List (moderate evidence)	MYZAP Dilated and arrhythmogenic cardiomyopathy v3.11	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Dilated cardiomyopathy, MONDO:0005021 Cardiomyopathy, dilated, 2K, OMIM:620894 Tags
Amber List (moderate evidence)	NRAP Dilated and arrhythmogenic cardiomyopathy v3.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags gene-checked
Amber List (moderate evidence)	RHBDF1 Dilated and arrhythmogenic cardiomyopathy v3.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags watchlist
Amber List (moderate evidence)	RPL3L Dilated and arrhythmogenic cardiomyopathy v3.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cardiomyopathy, dilated, 2D, OMIM:619371 Tags Q3_25_expert_review Q3_25_promote_green
Amber List (moderate evidence)	RPS6KB1 Hypertrophic cardiomyopathy v5.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Hypertrophic cardiomyopathy Tags
Amber List (moderate evidence)	RRAGC Dilated and arrhythmogenic cardiomyopathy v3.11	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature NHS GMS Phenotypes Dilated cardiomyopathy, hepatopathy and brain abnormalities Tags
Amber List (moderate evidence)	RRAGD Dilated and arrhythmogenic cardiomyopathy v3.11	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Literature Expert Review Amber Phenotypes hypomagnesaemia cardiomyopathy tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 Tags
Amber List (moderate evidence)	SCN1B Progressive cardiac conduction disease v2.13	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber South West GLH London South GLH Phenotypes Cardiac conduction defect, nonspecific, OMIM:612838 Brugada syndrome 5, OMIM:612838 Atrial fibrillation, familial, 13, OMIM:615377 Tags
Amber List (moderate evidence)	SCN5A Short QT syndrome v3.16	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH North West GLH Expert Review Amber Brugada syndrome (Version 1.7) Long QT syndrome (Version 1.5) Emory Genetics Laboratory Literature Phenotypes Ventricular fibrillation, familial, 1 (603829) Brugada syndrome 1 (601144) {Sudden infant death syndrome, susceptibility to} (272120) Brugada syndrome 1 601144 Heart block, progressive, type IA (113900) Heart block, nonprogressive (113900) Sick sinus syndrome 1 (608567) Long QT syndrome-3 (603830) Cardiomyopathy, dilated, 1E (601154) Atrial fibrillation, familial, 10 (614022) Tags watchlist
Amber List (moderate evidence)	SGCD Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber UKGTN South West GLH Radboud University Medical Center, Nijmegen Wessex and West Midlands GLH Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Wessex and West Midlands GLH Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287) Cardiomyopathy, dilated, 1L Cardiomyopathy, dilated, 1L (606685) Tags
Amber List (moderate evidence)	SLC4A3 Short QT syndrome v3.16	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber West Midlands, Oxford and Wessex GLH South West GLH Literature Phenotypes short QT ventricular fibrillation cardiac arrest Tags
Amber List (moderate evidence)	SLC6A6 Dilated and arrhythmogenic cardiomyopathy v3.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Early retinal degeneration cardiomyopathy Tags watchlist
Amber List (moderate evidence)	SPEG Dilated and arrhythmogenic cardiomyopathy v3.11	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 List (moderate evidence)	SVIL Hypertrophic cardiomyopathy v5.29	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes hypertrophic cardiomyopathy, MONDO:0005045 Tags
Amber List (moderate evidence)	TAB2 Dilated and arrhythmogenic cardiomyopathy v3.11	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London South GLH NHS GMS Expert Review Amber Phenotypes Congenital heart defects, nonsyndromic, 2, OMIM:614980 Tags
Amber List (moderate evidence)	TAX1BP3 Dilated and arrhythmogenic cardiomyopathy v3.11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arrhythmogenic cardiomyopathy Tags
Amber List (moderate evidence)	TBX5 Progressive cardiac conduction disease v2.13	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber South West GLH London South GLH Phenotypes Holt-Oram syndrome, OMIM:142900 Tags
Amber List (moderate evidence)	TBX5 Dilated and arrhythmogenic cardiomyopathy v3.11	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 List (moderate evidence)	TCAP Dilated and arrhythmogenic cardiomyopathy v3.11	6 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 25 (607487) Cardiomyopathy, dilated, 1N Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) Tags
Amber List (moderate evidence)	TECRL Long QT syndrome v3.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 Tags
Amber List (moderate evidence)	TRDN Long QT syndrome v3.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Long QT syndrome Tags
Amber List (moderate evidence)	TRPM4 Progressive cardiac conduction disease v2.13	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Amber Wessex and West Midlands GLH Phenotypes Progressive familial heart block, type IB, OMIM:604559 Tags
Amber List (moderate evidence)	TULP3 Hypertrophic cardiomyopathy v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Hepatorenocardiac degenerative fibrosis, OMIM:619902 Tags
Red List (low evidence)	ABCC9 Brugada syndrome and cardiac sodium channel disease v3.14	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH North West GLH Literature Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	ABCC9 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red UKGTN South West GLH Radboud University Medical Center, Nijmegen Wessex and West Midlands GLH Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Wessex and West Midlands GLH Phenotypes Cardiomyopathy, dilated, 1O (608569) Dilated Cardiomyopathy, Dominant Cardiomyopathy, dilated, 1O Atrial fibrillation, familial, 12 (614050) Tags
Red List (low evidence)	ABCC9 Short QT syndrome v3.16	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Expert Review Red Brugada syndrome (Version 1.7) Literature Phenotypes ventricular tachycardia Atrial fibrillation, familial, 12 (614050) Cardiomyopathy, dilated, 1O (608569) short qt atrial fibrillation Tags
Red List (low evidence)	ACADVL Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	ACTA1 Hypertrophic cardiomyopathy v5.29	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes Hypertrophic cardiomyopathy Dilated cardiomyopathy Tags
Red List (low evidence)	ACTN2 Progressive cardiac conduction disease v2.13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Phenotypes Heart conduction disease, MONDO:0000992 Tags
Red List (low evidence)	AGL Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	AKAP9 Long QT syndrome v3.12	6 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH North West GLH Expert Review Red UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Long QT syndrome-11 (611820) Long QT syndrome-11 Tags
Red List (low evidence)	AKAP9 Short QT syndrome v3.16	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Emory Genetics Laboratory Long QT syndrome (Version 1.5) Phenotypes Long QT syndrome-11 (611820) ?Long QT syndrome-11 611820 Tags
Red List (low evidence)	ALG10 Long QT syndrome v3.12	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Radboud University Medical Center, Nijmegen Phenotypes Progressive myoclonus epilepsy CDG Tags
Red List (low evidence)	ALG10B Short QT syndrome v3.16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 Tags
Red List (low evidence)	ALG10B Long QT syndrome v3.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 Tags
Red List (low evidence)	ANK2 Brugada syndrome and cardiac sodium channel disease v3.14	6 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH North West GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags disputed
Red List (low evidence)	ANK2 Catecholaminergic polymorphic VT v5.3	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert Review Red Expert list Phenotypes catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 Tags
Red List (low evidence)	ANK2 Long QT syndrome v3.12	9 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH North West GLH UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Long QT syndrome-4 Cardiac arrhythmia, ankyrin-B-related (600919) Long QT syndrome 4 (600919) Tags
Red List (low evidence)	ANK2 Short QT syndrome v3.16	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH Brugada syndrome (Version 1.7) Long QT syndrome (Version 1.5) Emory Genetics Laboratory Phenotypes Long QT syndrome 4 (600919) Long QT syndrome 4 600919 Cardiac arrhythmia, ankyrin-B-related (600919) Cardiac arrhythmia, ankyrin-B-related 600919 Tags
Red List (low evidence)	ANK2 Progressive cardiac conduction disease v2.13	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Phenotypes Heart conduction disease, MONDO:0000992 Tags
Red List (low evidence)	ANKRD1 Hypertrophic cardiomyopathy v5.29	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert list UKGTN Tags
Red List (low evidence)	ATP5E Hypertrophic cardiomyopathy v5.29	3 reviews 1 red	Unknown	Sources South West GLH Expert list Phenotypes syndromic HCM Tags new-gene-name
Red List (low evidence)	BRAF Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	CACNA1C Brugada syndrome and cardiac sodium channel disease v3.14	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Red Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Brugada syndrome 3, MONDO:0012742 Tags disputed
Red List (low evidence)	CACNA2D1 Brugada syndrome and cardiac sodium channel disease v3.14	5 reviews 4 red	Unknown	Sources South West GLH London South GLH North West GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	CACNB2 Brugada syndrome and cardiac sodium channel disease v3.14	5 reviews 3 red	Unknown	Sources Expert Review Red South West GLH London South GLH North West GLH Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Brugada syndrome 4 (611876) Tags
Red List (low evidence)	CALM1 Short QT syndrome v3.16	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH Emory Genetics Laboratory Long QT syndrome (Version 1.5) Phenotypes Long QT syndrome 14 (616247) Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) Tags
Red List (low evidence)	CALM2 Short QT syndrome v3.16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Long QT syndrome (Version 1.5) Tags
Red List (low evidence)	CALM3 Short QT syndrome v3.16	1 review 1 red	Not set	Sources Long QT syndrome (Version 1.5) Tags
Red List (low evidence)	CALR3 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	Unknown	Sources South West GLH Expert list Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, familial hypertrophic, 19 Tags
Red List (low evidence)	CASQ2 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes Hypertrophic cardiomyopathy Left ventricular non-compaction Catecholaminergic polymorphic ventricular tachycardia Tags
Red List (low evidence)	CAV3 Short QT syndrome v3.16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brugada syndrome (Version 1.7) Long QT syndrome (Version 1.5) Emory Genetics Laboratory Tags
Red List (low evidence)	CAV3 Hypertrophic cardiomyopathy v5.29	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Red Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Cardiomyopathy, familial hypertrophic, Tags
Red List (low evidence)	CAV3 Long QT syndrome v3.12	8 reviews 1 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Red Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Long QT syndrome-9 Tags
Red List (low evidence)	CAV3 Brugada syndrome and cardiac sodium channel disease v3.14	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	CAVIN4 Arrhythmogenic right ventricular cardiomyopathy v3.15	1 review	Unknown	Sources South West GLH Tags
Red List (low evidence)	COA5 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	CRYAB Hypertrophic cardiomyopathy v5.29	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Radboud University Medical Center, Nijmegen Expert list Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Tags
Red List (low evidence)	CTNNA3 Arrhythmogenic right ventricular cardiomyopathy v3.15	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert Review Red Radboud University Medical Center, Nijmegen Expert list Phenotypes Arrhythmogenic right ventricular dysplasia, familial, 13, Tags
Red List (low evidence)	DES Hypertrophic cardiomyopathy v5.29	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Expert list Tags
Red List (low evidence)	DLG1 Short QT syndrome v3.16	1 review 1 red	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red List (low evidence)	DLG1 Brugada syndrome and cardiac sodium channel disease v3.14	3 reviews 2 red	Unknown	Sources Expert Review Red South West GLH Oxford Medical Genetics Laboratory Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	EYA4 Dilated and arrhythmogenic cardiomyopathy v3.11	7 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red UKGTN South West GLH Radboud University Medical Center, Nijmegen Wessex and West Midlands GLH Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list South West GLH London South GLH North West GLH Wessex and West Midlands GLH Phenotypes ?Cardiomyopathy, dilated, 1J, OMIM:605362 Tags
Red List (low evidence)	FHOD3 Dilated and arrhythmogenic cardiomyopathy v3.11	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Tags
Red List (low evidence)	FLNC Progressive cardiac conduction disease v2.13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Phenotypes Heart conduction disease, MONDO:0000992 Tags
Red List (low evidence)	FOXRED1 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	Unknown	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	FXN Hypertrophic cardiomyopathy v5.29	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Red List (low evidence)	GAA Hypertrophic cardiomyopathy v5.29	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	GATAD1 Dilated and arrhythmogenic cardiomyopathy v3.11	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Tags
Red List (low evidence)	GJA5 Progressive cardiac conduction disease v2.13	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Phenotypes Heart conduction disease, MONDO:0000992 Tags
Red List (low evidence)	GLB1 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	GPD1L Short QT syndrome v3.16	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Phenotypes Brugada syndrome 2 (611777) Tags
Red List (low evidence)	GPD1L Brugada syndrome and cardiac sodium channel disease v3.14	5 reviews 3 red	Unknown	Sources Expert Review Red South West GLH London South GLH North West GLH Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brugada syndrome 2, OMIM:611777 Tags
Red List (low evidence)	GUSB Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	HCN4 Brugada syndrome and cardiac sodium channel disease v3.14	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH North West GLH Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brugada syndrome 8, OMIM:613123 Tags
Red List (low evidence)	HCN4 Short QT syndrome v3.16	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Phenotypes Sick sinus syndrome 2 (163800) Brugada syndrome 8 (613123) Tags
Red List (low evidence)	HRAS Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	KCND3 Brugada syndrome and cardiac sodium channel disease v3.14	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Red Expert list Phenotypes Brugada syndrome 9, OMIM:616399 Tags
Red List (low evidence)	KCND3 Short QT syndrome v3.16	1 review 1 red	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red List (low evidence)	KCNE1 Short QT syndrome v3.16	2 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources North West GLH Emory Genetics Laboratory Long QT syndrome (Version 1.5) Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695 Tags
Red List (low evidence)	KCNE1 Catecholaminergic polymorphic VT v5.3	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 Tags
Red List (low evidence)	KCNE2 Short QT syndrome v3.16	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH Emory Genetics Laboratory Long QT syndrome (Version 1.5) Phenotypes Long QT syndrome-6 (613693) Atrial fibrillation, familial, 4 (611493) Tags
Red List (low evidence)	KCNE3 Short QT syndrome v3.16	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Long QT syndrome (Version 1.5) Phenotypes ?Brugada syndrome 6 (613119) Tags
Red List (low evidence)	KCNE3 Long QT syndrome v3.12	2 reviews 1 red	Unknown	Sources South West GLH Literature Phenotypes Long QT syndrome Brugada syndrome Tags
Red List (low evidence)	KCNE3 Brugada syndrome and cardiac sodium channel disease v3.14	5 reviews 3 red	Unknown	Sources Expert Review Red South West GLH London South GLH North West GLH Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes ?Brugada syndrome 6, OMIM:613119 Tags
Red List (low evidence)	KCNE5 Short QT syndrome v3.16	1 review 1 red	Not set	Sources Brugada syndrome (Version 1.7) Phenotypes atrial fibrillation Brugada syndrome Tags
Red List (low evidence)	KCNE5 Brugada syndrome and cardiac sodium channel disease v3.14	6 reviews 3 red	Unknown	Sources Expert Review Red South West GLH Oxford Medical Genetics Laboratory Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	KCNJ2 Catecholaminergic polymorphic VT v5.3	5 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH North West GLH UKGTN Expert list Phenotypes catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 Tags
Red List (low evidence)	KCNJ5 Short QT syndrome v3.16	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH Long QT syndrome (Version 1.5) Phenotypes Hyperaldosteronism, familial, type III (613677) Long QT syndrome 13 (613485) Tags
Red List (low evidence)	KCNJ5 Long QT syndrome v3.12	9 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH North West GLH UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hyperaldosteronism, familial, type III (613677) Long QT syndrome 13 (613485) Long QT syndrome 13 Tags
Red List (low evidence)	KCNJ8 Brugada syndrome and cardiac sodium channel disease v3.14	4 reviews 3 red	Unknown	Sources South West GLH London South GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	KCNJ8 Short QT syndrome v3.16	2 reviews 2 red	Unknown	Sources Expert Review Red Brugada syndrome (Version 1.7) Literature Phenotypes short qt ventricular tachycardia atrial fibrillation Tags
Red List (low evidence)	KCNK17 Progressive cardiac conduction disease v2.13	3 reviews 2 red	Unknown	Sources South West GLH Phenotypes Heart conduction disease, MONDO:0000992 Tags
Red List (low evidence)	KCNQ1 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes Hypertrophic cardiomyopathy Long QT syndrome Short QT syndrome Tags
Red List (low evidence)	KLF10 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	Unknown	Sources South West GLH Literature Phenotypes Hypertrophic cardiomyopathy Tags
Red List (low evidence)	LDB3 Arrhythmogenic right ventricular cardiomyopathy v3.15	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert Review Red Expert list Tags
Red List (low evidence)	LDB3 Hypertrophic cardiomyopathy v5.29	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert list Tags
Red List (low evidence)	LMNA Hypertrophic cardiomyopathy v5.29	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Tags
Red List (low evidence)	LRP5 Short QT syndrome v3.16	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes short qt Tags
Red List (low evidence)	LZTR1 Hypertrophic cardiomyopathy v5.29	5 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes RASopathy-associated cardiomyopathy Tags
Red List (low evidence)	MAP2K1 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	Unknown	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	MAP2K2 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	Unknown	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	MRPL3 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	MYH6 Hypertrophic cardiomyopathy v5.29	6 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH North West GLH Wessex and West Midlands GLH Expert list Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, dilated, 1EE (613252) Atrial septal defect 3 (614089) {Sick sinus syndrome 3} (614090) Cardiomyopathy, hypertrophic, 14 (613251) Cardiomyopathy, familial hypertrophic, 14 Tags
Red List (low evidence)	MYO6 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Tags
Red List (low evidence)	MYOM1 Hypertrophic cardiomyopathy v5.29	2 reviews	Unknown	Sources South West GLH Expert list Tags
Red List (low evidence)	MYOZ2 Hypertrophic cardiomyopathy v5.29	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Red Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Cardiomyopathy, familial hypertrophic, 16, Tags
Red List (low evidence)	NEXN Hypertrophic cardiomyopathy v5.29	6 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH North West GLH Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, hypertrophic, 20, OMIM:613876 Tags
Red List (low evidence)	NOS1AP Short QT syndrome v3.16	1 review 1 red	Not set	Sources Long QT syndrome (Version 1.5) Tags
Red List (low evidence)	NOS1AP Long QT syndrome v3.12	4 reviews 2 red	Unknown	Sources South West GLH Expert list Tags
Red List (low evidence)	NRAS Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	PDLIM3 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	Unknown	Sources South West GLH Expert list Tags
Red List (low evidence)	PKP2 Brugada syndrome and cardiac sodium channel disease v3.14	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Literature Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	PKP2 Short QT syndrome v3.16	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) Tags
Red List (low evidence)	PTPN11 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	RAF1 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	RANGRF Brugada syndrome and cardiac sodium channel disease v3.14	4 reviews 2 red	Unknown	Sources South West GLH London South GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	RANGRF Short QT syndrome v3.16	1 review 1 red	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red List (low evidence)	RBM20 Arrhythmogenic right ventricular cardiomyopathy v3.15	4 reviews 1 green 2 red	Not set	Sources London South GLH Phenotypes Cardiomyopathy, dilated, 1DD 613172 Tags
Red List (low evidence)	RYR2 Long QT syndrome v3.12	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH London South GLH Literature Phenotypes Long QT syndrome Catecholaminergic polymorphic ventricular tachycardia Arrhythmogenic right ventricular cardiomyopathy Tags
Red List (low evidence)	RYR2 Short QT syndrome v3.16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Long QT syndrome (Version 1.5) Phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996) Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) Tags
Red List (low evidence)	RYR2 Arrhythmogenic right ventricular cardiomyopathy v3.15	9 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH Wessex and West Midlands GLH Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Arrhythmogenic right ventricular dysplasia 2 Arrhythmogenic right ventricular dysplasia 2 (600996) Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) Tags deletions
Red List (low evidence)	SCN10A Short QT syndrome v3.16	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Expert Review Red Brugada syndrome (Version 1.7) Literature Phenotypes J wave syndrome short QT Episodic pain syndrome, familial, 2 (615551) sudden death Tags
Red List (low evidence)	SCN10A Brugada syndrome and cardiac sodium channel disease v3.14	6 reviews 1 green 3 red	Unknown	Sources Expert Review Red South West GLH London South GLH North West GLH Oxford Medical Genetics Laboratory Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	SCN1B Short QT syndrome v3.16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Phenotypes Cardiac conduction defect, nonspecific, OMIM:612838 Brugada syndrome 5, OMIM:612838 Atrial fibrillation, familial, 13, OMIM:615377 Tags
Red List (low evidence)	SCN1B Brugada syndrome and cardiac sodium channel disease v3.14	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red South West GLH London South GLH North West GLH Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Cardiac conduction defect, nonspecific, OMIM:612838 Brugada syndrome 5, OMIM:612838 Atrial fibrillation, familial, 13, OMIM:615377 Tags disputed
Red List (low evidence)	SCN2B Brugada syndrome and cardiac sodium channel disease v3.14	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH Oxford Medical Genetics Laboratory Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	SCN2B Short QT syndrome v3.16	0 reviews	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red List (low evidence)	SCN3B Brugada syndrome and cardiac sodium channel disease v3.14	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH North West GLH Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Brugada syndrome 7, OMIM:613120 Tags
Red List (low evidence)	SCN3B Short QT syndrome v3.16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Tags
Red List (low evidence)	SCN4B Long QT syndrome v3.12	7 reviews 6 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Red UKGTN Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Long QT syndrome-10 Long QT syndrome-10 (611819) Tags
Red List (low evidence)	SCN4B Short QT syndrome v3.16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Emory Genetics Laboratory Long QT syndrome (Version 1.5) Tags
Red List (low evidence)	SCN5A Arrhythmogenic right ventricular cardiomyopathy v3.15	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Literature Phenotypes Arrhythmogenic right ventricular cardiomyopathy Long QT syndrome Brugada syndrome Dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Tags
Red List (low evidence)	SCO2 Hypertrophic cardiomyopathy v5.29	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	SHOC2 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	SLC22A5 Short QT syndrome v3.16	8 reviews 2 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red West Midlands, Oxford and Wessex GLH South West GLH London South GLH Literature Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Red List (low evidence)	SLC25A3 Hypertrophic cardiomyopathy v5.29	5 reviews 2 red	Unknown	Sources South West GLH Expert Review Red Expert list Phenotypes Mitochondrial phosphate carrier deficiency, 610773 Tags
Red List (low evidence)	SLC25A4 Hypertrophic cardiomyopathy v5.29	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH North West GLH Literature Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418) Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283) Hypertrophic cardiomyopathy Tags
Red List (low evidence)	SLMAP Short QT syndrome v3.16	0 reviews	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red List (low evidence)	SLMAP Brugada syndrome and cardiac sodium channel disease v3.14	4 reviews 3 red	Unknown	Sources South West GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	SNTA1 Long QT syndrome v3.12	9 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH North West GLH UKGTN Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Long QT syndrome 12 612955 Long QT syndrome 12 (612955) Tags
Red List (low evidence)	SNTA1 Short QT syndrome v3.16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH Emory Genetics Laboratory Long QT syndrome (Version 1.5) Phenotypes Long QT syndrome 12 (612955) Tags
Red List (low evidence)	SOS1 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	TBX1 Hypertrophic cardiomyopathy v5.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hypertrophic cardiomyopathy, HP:0001639 Tags
Red List (low evidence)	TBX3 Progressive cardiac conduction disease v2.13	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH Phenotypes Heart conduction disease, MONDO:0000992 Tags
Red List (low evidence)	TCAP Hypertrophic cardiomyopathy v5.29	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Cardiomyopathy, hypertrophic, 25 (607487) Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) Tags
Red List (low evidence)	TGFB3 Arrhythmogenic right ventricular cardiomyopathy v3.15	5 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Red Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Arrhythmogenic right ventricular dysplasia 1 Tags
Red List (low evidence)	TMEM70 Hypertrophic cardiomyopathy v5.29	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM Tags
Red List (low evidence)	TRPM4 Brugada syndrome and cardiac sodium channel disease v3.14	7 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH North West GLH Oxford Medical Genetics Laboratory Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red List (low evidence)	TRPM4 Short QT syndrome v3.16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Phenotypes Progressive familial heart block, type IB (604559) Tags
Red List (low evidence)	TSFM Hypertrophic cardiomyopathy v5.29	6 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert Review Red Expert list Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Red List (low evidence)	TTN Arrhythmogenic right ventricular cardiomyopathy v3.15	8 reviews 1 green 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert Review Red Expert list Phenotypes Cardiomyopathy, dilated, 1G, 604145 Tags
Red List (low evidence)	TTN Hypertrophic cardiomyopathy v5.29	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert Review Red Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Cardiomyopathy, familial hypertrophic, 9, Tags
Red List (low evidence)	VCL Hypertrophic cardiomyopathy v5.29	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH North West GLH Expert list Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, dilated, 1W (611407) Cardiomyopathy, familial hypertrophic, 15, Cardiomyopathy, hypertrophic, 15 (613255) Tags
No list	DST Dilated and arrhythmogenic cardiomyopathy v3.11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Literature Phenotypes arthrogryposis, MONDO:0859248 cardiomyopathy, MONDO:0004994 congenital myopathy, MONDO:0019952 Tags curated_removed
No list	FXN_GAA STR Hypertrophic cardiomyopathy v5.29	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Removed Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags curated_removed STR
No list	MT-ND5 Hypertrophic cardiomyopathy v5.29	4 reviews 1 green 1 red	MITOCHONDRIAL	Sources Expert Review Removed Literature Phenotypes hypertrophic cardiomyopathy, MONDO:0005045 Tags curated_removed
No list	MT-TL1 Hypertrophic cardiomyopathy v5.29	5 reviews 1 green 1 red	MITOCHONDRIAL	Sources Expert Review Removed South West GLH Expert Review Phenotypes MELAS syndrome caused by mutation in MTTL1, MONDO:0800032 hypertrophic cardiomyopathy, MONDO:0005045 Tags curated_removed locus-type-rna-transfer
No list	MT-TV Hypertrophic cardiomyopathy v5.29	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed Literature Phenotypes MELAS syndrome, MONDO:0010789 hypertrophic cardiomyopathy, MONDO:000504 Tags curated_removed locus-type-rna-transfer

Sudden unexplained death or survivors of a cardiac event (Version 22.54)

285 Entities

283 reviewed, 101 green

7 reviews

Sources

Phenotypes

Tags

7 reviews

Sources

Phenotypes

Tags

7 reviews

Sources

Phenotypes

Tags

8 reviews

Sources

Phenotypes

Tags

8 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

8 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

9 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

7 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Tags

8 reviews

Sources

Phenotypes

Tags

8 reviews

Sources

Phenotypes

Tags

8 reviews

Sources