Cardiac arrhythmias (Version 13.30)

The latest signed off version for the GMS is v13.4. The current version, shown here, may differ from the signed-off version.

Description

This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

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.

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

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.

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:

- The Long QT syndrome gene panel version 3.1
(https://panelapp.genomicsengland.co.uk/api/v1/panels/76/?version=3.1)
- The Catecholaminergic polymorphic VT gene panel version 4.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/214/?version=4.0)
- The Brugada syndrome and cardiac sodium channel disease gene panel version 3.2
(https://panelapp.genomicsengland.co.uk/api/v1/panels/13/?version=3.2)
- The Short QT syndrome gene panel version 3.1
(https://panelapp.genomicsengland.co.uk/api/v1/panels/224/?version=3.1)
- The Cardiac arrhythmias - additional genes version 3.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/843/?version=3.0)

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

100 Entities

98 reviewed, 22 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 100 Entitiess
Green Green List (high evidence)	CACNA1C Long QT syndrome v3.7	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 Green List (high evidence)	CACNA1C Short QT syndrome v3.10	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 Green List (high evidence)	CALM1 Long QT syndrome v3.7	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 Green List (high evidence)	CALM1 Catecholaminergic polymorphic VT v4.4	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 Green List (high evidence)	CALM2 Catecholaminergic polymorphic VT v4.4	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 Green List (high evidence)	CALM2 Long QT syndrome v3.7	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 Green List (high evidence)	CALM3 Catecholaminergic polymorphic VT v4.4	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 Green List (high evidence)	CALM3 Long QT syndrome v3.7	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 Green List (high evidence)	CASQ2 Catecholaminergic polymorphic VT v4.4	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 Green List (high evidence)	GNB5 Cardiac arrhythmias - additional genes v3.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182 Tags
Green Green List (high evidence)	KCNE1 Long QT syndrome v3.7	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 Green List (high evidence)	KCNH2 Long QT syndrome v3.7	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 Green List (high evidence)	KCNH2 Short QT syndrome v3.10	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 Green List (high evidence)	KCNJ2 Short QT syndrome v3.10	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 Green List (high evidence)	KCNJ2 Long QT syndrome v3.7	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 Green List (high evidence)	KCNQ1 Short QT syndrome v3.10	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 Green List (high evidence)	KCNQ1 Long QT syndrome v3.7	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 Green List (high evidence)	RYR2 Catecholaminergic polymorphic VT v4.4	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 Green List (high evidence)	SCN5A Brugada syndrome and cardiac sodium channel disease v3.8	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 Green List (high evidence)	SCN5A Long QT syndrome v3.7	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 Green List (high evidence)	TECRL Catecholaminergic polymorphic VT v4.4	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 Green List (high evidence)	TRDN Catecholaminergic polymorphic VT v4.4	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
Amber Amber List (moderate evidence)	CACNA2D1 Short QT syndrome v3.10	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 Amber List (moderate evidence)	CACNB2 Short QT syndrome v3.10	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 Amber List (moderate evidence)	KCNE2 Long QT syndrome v3.7	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 Amber List (moderate evidence)	KCNH2 Brugada syndrome and cardiac sodium channel disease v3.8	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 Amber List (moderate evidence)	SCN5A Short QT syndrome v3.10	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 Amber List (moderate evidence)	SLC4A3 Short QT syndrome v3.10	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 Amber List (moderate evidence)	TANGO2 Cardiac arrhythmias - additional genes v3.3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Amber Amber List (moderate evidence)	TECRL Long QT syndrome v3.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 Tags
Amber Amber List (moderate evidence)	TRDN Long QT syndrome v3.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Long QT syndrome Tags
Red Red List (low evidence)	ABCC9 Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	ABCC9 Short QT syndrome v3.10	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 Red List (low evidence)	AKAP9 Short QT syndrome v3.10	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 Red List (low evidence)	AKAP9 Long QT syndrome v3.7	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 Red List (low evidence)	ALG10 Long QT syndrome v3.7	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Radboud University Medical Center, Nijmegen Phenotypes Progressive myoclonus epilepsy CDG Tags
Red Red List (low evidence)	ALG10B Long QT syndrome v3.7	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 Red List (low evidence)	ALG10B Short QT syndrome v3.10	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 Red List (low evidence)	ANK2 Brugada syndrome and cardiac sodium channel disease v3.8	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
Red Red List (low evidence)	ANK2 Short QT syndrome v3.10	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 Red List (low evidence)	ANK2 Long QT syndrome v3.7	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 Red List (low evidence)	ANK2 Catecholaminergic polymorphic VT v4.4	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 Red List (low evidence)	ANK2 Cardiac arrhythmias - additional genes v3.3	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Long QT syndrome 4, 600919 Cardiac arrhythmia, ankyrin-B-related, 600919 Tags
Red Red List (low evidence)	CACNA1C Brugada syndrome and cardiac sodium channel disease v3.8	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
Red Red List (low evidence)	CACNA2D1 Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	CACNB2 Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	CALM1 Short QT syndrome v3.10	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 Red List (low evidence)	CALM2 Short QT syndrome v3.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Long QT syndrome (Version 1.5) Tags
Red Red List (low evidence)	CALM3 Short QT syndrome v3.10	1 review 1 red	Not set	Sources Long QT syndrome (Version 1.5) Tags
Red Red List (low evidence)	CAV3 Long QT syndrome v3.7	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 Red List (low evidence)	CAV3 Short QT syndrome v3.10	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 Red List (low evidence)	CAV3 Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	DLG1 Brugada syndrome and cardiac sodium channel disease v3.8	3 reviews 2 red	Unknown	Sources Expert Review Red South West GLH Oxford Medical Genetics Laboratory Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red Red List (low evidence)	DLG1 Short QT syndrome v3.10	1 review 1 red	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red Red List (low evidence)	GPD1L Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	GPD1L Short QT syndrome v3.10	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 Red List (low evidence)	HCN4 Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	HCN4 Short QT syndrome v3.10	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 Red List (low evidence)	KCND3 Short QT syndrome v3.10	1 review 1 red	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red Red List (low evidence)	KCND3 Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	KCNE1 Short QT syndrome v3.10	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 Red List (low evidence)	KCNE1 Catecholaminergic polymorphic VT v4.4	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 Red List (low evidence)	KCNE2 Short QT syndrome v3.10	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 Red List (low evidence)	KCNE3 Long QT syndrome v3.7	2 reviews 1 red	Unknown	Sources South West GLH Literature Phenotypes Long QT syndrome Brugada syndrome Tags
Red Red List (low evidence)	KCNE3 Short QT syndrome v3.10	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 Red List (low evidence)	KCNE3 Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	KCNE5 Short QT syndrome v3.10	1 review 1 red	Not set	Sources Brugada syndrome (Version 1.7) Phenotypes atrial fibrillation Brugada syndrome Tags
Red Red List (low evidence)	KCNE5 Brugada syndrome and cardiac sodium channel disease v3.8	6 reviews 3 red	Unknown	Sources Expert Review Red South West GLH Oxford Medical Genetics Laboratory Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red Red List (low evidence)	KCNJ2 Catecholaminergic polymorphic VT v4.4	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 Red List (low evidence)	KCNJ5 Short QT syndrome v3.10	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 Red List (low evidence)	KCNJ5 Long QT syndrome v3.7	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 Red List (low evidence)	KCNJ8 Brugada syndrome and cardiac sodium channel disease v3.8	4 reviews 3 red	Unknown	Sources South West GLH London South GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red Red List (low evidence)	KCNJ8 Short QT syndrome v3.10	2 reviews 2 red	Unknown	Sources Expert Review Red Brugada syndrome (Version 1.7) Literature Phenotypes short qt ventricular tachycardia atrial fibrillation Tags
Red Red List (low evidence)	LRP5 Short QT syndrome v3.10	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes short qt Tags
Red Red List (low evidence)	MLIP Cardiac arrhythmias - additional genes v3.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Arrhythmia, HP:0011675 Tags
Red Red List (low evidence)	NOS1AP Long QT syndrome v3.7	4 reviews 2 red	Unknown	Sources South West GLH Expert list Tags
Red Red List (low evidence)	NOS1AP Short QT syndrome v3.10	1 review 1 red	Not set	Sources Long QT syndrome (Version 1.5) Tags
Red Red List (low evidence)	PKP2 Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	PKP2 Short QT syndrome v3.10	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 Red List (low evidence)	RANGRF Short QT syndrome v3.10	1 review 1 red	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red Red List (low evidence)	RANGRF Brugada syndrome and cardiac sodium channel disease v3.8	4 reviews 2 red	Unknown	Sources South West GLH London South GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red Red List (low evidence)	RYR2 Long QT syndrome v3.7	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 Red List (low evidence)	RYR2 Short QT syndrome v3.10	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 Red List (low evidence)	SCN10A Short QT syndrome v3.10	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 Red List (low evidence)	SCN10A Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	SCN1B Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	SCN1B Short QT syndrome v3.10	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 Red List (low evidence)	SCN2B Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	SCN2B Short QT syndrome v3.10	0 reviews	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red Red List (low evidence)	SCN3B Brugada syndrome and cardiac sodium channel disease v3.8	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 Red List (low evidence)	SCN3B Short QT syndrome v3.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Tags
Red Red List (low evidence)	SCN4B Long QT syndrome v3.7	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 Red List (low evidence)	SCN4B Short QT syndrome v3.10	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 Red List (low evidence)	SLC22A5 Short QT syndrome v3.10	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 Red List (low evidence)	SLMAP Brugada syndrome and cardiac sodium channel disease v3.8	4 reviews 3 red	Unknown	Sources South West GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263 Tags
Red Red List (low evidence)	SLMAP Short QT syndrome v3.10	0 reviews	Not set	Sources Brugada syndrome (Version 1.7) Tags
Red Red List (low evidence)	SNTA1 Short QT syndrome v3.10	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 Red List (low evidence)	SNTA1 Long QT syndrome v3.7	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 Red List (low evidence)	TRPM4 Short QT syndrome v3.10	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 Red List (low evidence)	TRPM4 Brugada syndrome and cardiac sodium channel disease v3.8	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

Cardiac arrhythmias (Version 13.30)

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