Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
CACNA1C	gene	CACNA1C	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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				24291113;16301704;30027834;30279520;17224476;28427417;28490369;29759541;29697308		False	3	50;25;25	14.21	False		ENSG00000151067	ENSG00000151067	HGNC:1390													
CACNA1C	gene	CACNA1C	South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Emory Genetics Laboratory;Expert list	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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				18250309;15454078;25633834;24728418		False	3	86;14;0	14.21	False		ENSG00000151067	ENSG00000151067	HGNC:1390													
CALM1	gene	CALM1	South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916				27761157;19121813		False	3	83;17;0	14.21	False		ENSG00000198668	ENSG00000198668	HGNC:1442													
CALM1	gene	CALM1	Expert Review Green;South West GLH;London South GLH;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4						False	3	33;67;0	14.21	False		ENSG00000198668	ENSG00000198668	HGNC:1442													
CALM2	gene	CALM2	South West GLH;London South GLH;Expert Review Green;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 15, OMIM:616249;long QT syndrome 15, MONDO:0014550				24917665;27100291;27114410;33200177		False	3	80;20;0	14.21	False		ENSG00000143933	ENSG00000143933	HGNC:1445													
CALM2	gene	CALM2	Expert Review Green;South West GLH;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 15, OMIM:616249;long QT syndrome 15, MONDO:0014550				24917665;27100291;27114410;33200177		False	3	40;40;20	14.21	False		ENSG00000143933	ENSG00000143933	HGNC:1445													
CALM3	gene	CALM3	Expert Review Green;South West GLH;London South GLH;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782				27516456		False	3	20;60;20	14.21	False		ENSG00000160014	ENSG00000160014	HGNC:1449													
CALM3	gene	CALM3	Expert Review Green;South West GLH;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782;Long QT syndrome 16,618782						False	3	20;60;20	14.21	False		ENSG00000160014	ENSG00000160014	HGNC:1449													
CASQ2	gene	CASQ2	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	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938				27761157;19121813;16908766		False	3	86;14;0	14.21	False		ENSG00000118729	ENSG00000118729	HGNC:1513													
GNB5	gene	GNB5	NHS GMS;Expert Review Green;Literature	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182				27523599;28697420;29368331;33172956		False	3	100;0;0	14.21	False		ENSG00000069966	ENSG00000069966	HGNC:4401													
KCNE1	gene	KCNE1	Expert Review Green;Emory Genetics Laboratory;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Cardiac arrhythmias		Cardiology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Jervell and Lange-Nielsen syndrome 2, OMIM:612347;Long QT syndrome 5, OMIM:613695				19716085;31983240;11692163		False	3	75;25;0	14.21	False		ENSG00000180509	ENSG00000180509	HGNC:6240													
KCNH2	gene	KCNH2	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada;Short QT syndrome 1 (609620);ventricular fibrillation;cardiac arrest;Short QT syndrome 1 609620;Long QT syndrome-2 (613688);short qt;atrial fibrillation				16226079;16301704;4676148;15828882;19340359;18692916;21130771;25974115;29016797;29759541;16011830;19439805;22194679;16039272;29085299		False	3	71;14;14	14.21	False	Other	ENSG00000055118	ENSG00000055118	HGNC:6251													
KCNH2	gene	KCNH2	Expert Review Green;Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short QT syndrome 1 (609620);Long QT syndrome-2;Long QT syndrome-2 (613688)				19716085;31358886;26888179;7889573;9927399;36269083		False	3	86;14;0	14.21	False		ENSG00000055118	ENSG00000055118	HGNC:6251													
KCNJ2	gene	KCNJ2	South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Emory Genetics Laboratory;Expert list	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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				19716085;26888179;11371347;12163457		False	3	86;14;0	14.21	False		ENSG00000123700	ENSG00000123700	HGNC:6263													
KCNJ2	gene	KCNJ2	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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				16226079;16301704;15761194;22155372;23440193;24794859;22311718;22308236;19285083;19710529;25691870		False	3	57;14;29	14.21	False	Other	ENSG00000123700	ENSG00000123700	HGNC:6263													
KCNQ1	gene	KCNQ1	Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Cardiac arrhythmias		Cardiology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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)				19716085;26888179;8528244;9927399		False	3	86;14;0	14.21	False		ENSG00000053918	ENSG00000053918	HGNC:6294													
KCNQ1	gene	KCNQ1	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short QT syndrome 2, OMIM:609621;Long QT syndrome-1, OMIM:192500;Atrial fibrillation, familial, 3, OMIM:607554				16226079;16301704;15159330;16109388;26168993;26346102;25974115;29697308		False	3	62;38;0	14.21	True		ENSG00000053918	ENSG00000053918	HGNC:6294													
RYR2	gene	RYR2	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772				27761157;19121813;16391617		False	3	86;14;0	14.21	False		ENSG00000198626	ENSG00000198626	HGNC:10484													
SCN5A	gene	SCN5A	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Brugada syndrome 1, 601144;Brugada syndrome 1, MONDO:0011001				20031634;27761167;29959160;https://search.clinicalgenome.org/kb/gene-validity/10165		False	3	100;0;0	14.21	False		ENSG00000183873	ENSG00000183873	HGNC:10593													
SCN5A	gene	SCN5A	Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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)				19716085;29798782;26888179;7889574;29728395		False	3	86;14;0	14.21	False		ENSG00000183873	ENSG00000183873	HGNC:10593													
TECRL	gene	TECRL	NHS GMS;Expert Review Green;South West GLH	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021				27861123;30790670;32173957;33367594		False	3	75;25;0	14.21	False		ENSG00000205678	ENSG00000205678	HGNC:27365													
TRDN	gene	TRDN	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	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441				26200674		False	3	83;17;0	14.21	False		ENSG00000186439	ENSG00000186439	HGNC:12261													
CACNA1D	gene	CACNA1D	Expert Review Amber;Literature	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Sinoatrial node dysfunction and deafness, OMIM:614896;sinoatrial node dysfunction and deafness, MONDO:0013960				21131953;30498240;30054272;32747562		False	2	100;0;0	14.21	False		ENSG00000157388	ENSG00000157388	HGNC:1391													
CACNA2D1	gene	CACNA2D1	Expert Review Amber;South West GLH;London South GLH;North West GLH;UKGTN;Brugada syndrome (Version 1.7);Literature	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	short qt;Brugada syndrome;aborted sudden death;Short QT syndrome 6				30420954;19862833;16301704		False	2	14;71;14	14.21	True		ENSG00000153956	ENSG00000153956	HGNC:1399													
CACNB2	gene	CACNB2	South West GLH;London South GLH;North West GLH;Expert Review Amber;UKGTN;Brugada syndrome (Version 1.7);Literature	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Brugada syndrome 4 (611876);Short QT syndrome 5;brugada syndrome;Brugada syndrome 4 611876;short qt				30420954;19862833;16301704		False	2	14;71;14	14.21	False		ENSG00000165995	ENSG00000165995	HGNC:1402													
KCNE2	gene	KCNE2	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 6 (613693);Atrial fibrillation, familial, 4 (611493)				19716085;26888179;11468227		False	2	62;38;0	14.21	False		ENSG00000159197	ENSG00000159197	HGNC:6242													
SCN5A	gene	SCN5A	South West GLH;North West GLH;Expert Review Amber;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory;Literature	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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)				16301704;30420954;22490985		False	2	25;25;50	14.21	False		ENSG00000183873	ENSG00000183873	HGNC:10593													
SLC4A3	gene	SLC4A3	Expert Review Amber;West Midlands, Oxford and Wessex GLH;South West GLH;Literature	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	short QT;ventricular fibrillation;cardiac arrest				29167417;29697308		False	2	20;60;20	14.21	False		ENSG00000114923	ENSG00000114923	HGNC:11029													
TANGO2	gene	TANGO2	Expert Review Amber;Expert Review	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878;recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, MONDO:0018820				26805781;26805782;30245509;31339582;32929747;35568137;40156300		False	2	50;50;0	14.21	False		ENSG00000183597	ENSG00000183597	HGNC:25439													
TECRL	gene	TECRL	Expert Review Amber;NHS GMS	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021						False	2	0;100;0	14.21	False		ENSG00000205678	ENSG00000205678	HGNC:27365													
TRDN	gene	TRDN	Expert Review Amber;Expert list	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Long QT syndrome				31983240;25922419		False	2	100;0;0	14.21	False		ENSG00000186439	ENSG00000186439	HGNC:12261													
ABCC9	gene	ABCC9	South West GLH;North West GLH;Literature	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome, MONDO:0015263				27761167;24439875		False	1	0;0;100	14.21	False		ENSG00000069431	ENSG00000069431	HGNC:60													
ABCC9	gene	ABCC9	North West GLH;Expert Review Red;Brugada syndrome (Version 1.7);Literature	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	ventricular tachycardia;Atrial fibrillation, familial, 12 (614050);Cardiomyopathy, dilated, 1O (608569);short qt;atrial fibrillation				30420954;19862833;16301704		False	1	0;0;100	14.21	False	Other	ENSG00000069431	ENSG00000069431	HGNC:60													
AKAP9	gene	AKAP9	North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Long QT syndrome-11 (611820);?Long QT syndrome-11 611820				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000127914	ENSG00000127914	HGNC:379													
AKAP9	gene	AKAP9	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome-11 (611820);Long QT syndrome-11				25087618		False	1	0;0;100	14.21	False		ENSG00000127914	ENSG00000127914	HGNC:379													
ALG10	gene	ALG10	South West GLH;Radboud University Medical Center, Nijmegen	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Progressive myoclonus epilepsy;CDG				33798445		False	1	0;25;75	14.21	False		ENSG00000139133	ENSG00000139133	HGNC:23162													
ALG10B	gene	ALG10B	Other	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Acquired long QT syndrome, reduced susceptibility to} OMIM:613688				15280551		False	1	0;0;100	14.21	False		ENSG00000175548	ENSG00000175548	HGNC:31088													
ALG10B	gene	ALG10B	Other	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Acquired long QT syndrome, reduced susceptibility to} OMIM:613688				15280551		False	1	0;0;100	14.21	False		ENSG00000175548	ENSG00000175548	HGNC:31088													
ANK2	gene	ANK2	North West GLH;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 4 (600919);Long QT syndrome 4 600919;Cardiac arrhythmia, ankyrin-B-related (600919);Cardiac arrhythmia, ankyrin-B-related 600919				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000145362	ENSG00000145362	HGNC:493													
ANK2	gene	ANK2	South West GLH;Expert Review Red;Expert list	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990						False	1	0;50;50	14.21	False		ENSG00000145362	ENSG00000145362	HGNC:493													
ANK2	gene	ANK2	South West GLH;North West GLH;Expert Review Red;Expert list	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome, MONDO:0015263				27761167;27818464		False	1	0;25;75	14.21	False		ENSG00000145362	ENSG00000145362	HGNC:493													
ANK2	gene	ANK2	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome-4 ;Cardiac arrhythmia, ankyrin-B-related (600919);Long QT syndrome 4 (600919)				12571597		False	1	43;57;0	14.21	False		ENSG00000145362	ENSG00000145362	HGNC:493													
ANK2	gene	ANK2	Expert Review Red;NHS GMS	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Long QT syndrome 4, 600919;Cardiac arrhythmia, ankyrin-B-related, 600919				31983240		False	1	33;0;67	14.21	False		ENSG00000145362	ENSG00000145362	HGNC:493													
CACNA1C	gene	CACNA1C	South West GLH;London South GLH;Expert Review Red;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome 3, MONDO:0012742						False	1	0;0;100	14.21	False		ENSG00000151067	ENSG00000151067	HGNC:1390													
CACNA2D1	gene	CACNA2D1	South West GLH;London South GLH;North West GLH;Expert Review Red;Expert list	Cardiac arrhythmias		Cardiology	Unknown	Brugada syndrome, MONDO:0015263				17224476;20817017;27761167		False	1	0;0;100	14.21	False		ENSG00000153956	ENSG00000153956	HGNC:1399													
CACNB2	gene	CACNB2	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	Cardiac arrhythmias		Cardiology	Unknown	Brugada syndrome 4 (611876)				17224476;27761167		False	1	0;25;75	14.21	False		ENSG00000165995	ENSG00000165995	HGNC:1402													
CALM1	gene	CALM1	North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 14 (616247);Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000198668	ENSG00000198668	HGNC:1442													
CALM2	gene	CALM2	Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	1	0;0;100	14.21	False		ENSG00000143933	ENSG00000143933	HGNC:1445													
CALM3	gene	CALM3	Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology								False	1	0;0;100	14.21	False		ENSG00000160014	ENSG00000160014	HGNC:1449													
CAV3	gene	CAV3	Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	1	0;0;100	14.21	False		ENSG00000182533	ENSG00000182533	HGNC:1529													
CAV3	gene	CAV3	South West GLH;London South GLH;Expert Review Red;Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome-9				17060380		False	1	17;17;67	14.21	False		ENSG00000182533	ENSG00000182533	HGNC:1529													
CAV3	gene	CAV3	South West GLH;Expert Review Red;Expert list	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome, MONDO:0015263						False	1	0;50;50	14.21	False		ENSG00000182533	ENSG00000182533	HGNC:1529													
DLG1	gene	DLG1	Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology								False	1	0;0;100	14.21	False		ENSG00000075711	ENSG00000075711	HGNC:2900													
DLG1	gene	DLG1	Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	Unknown	Brugada syndrome, MONDO:0015263						False	1	0;0;100	14.21	False		ENSG00000075711	ENSG00000075711	HGNC:2900													
GPD1L	gene	GPD1L	North West GLH;Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Brugada syndrome 2 (611777)				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000152642	ENSG00000152642	HGNC:28956													
GPD1L	gene	GPD1L	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	Cardiac arrhythmias		Cardiology	Unknown	Brugada syndrome 2, OMIM:611777				27761167;19666841		False	1	0;25;75	14.21	False		ENSG00000152642	ENSG00000152642	HGNC:28956													
HCN4	gene	HCN4	North West GLH;Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sick sinus syndrome 2 (163800);Brugada syndrome 8 (613123)				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000138622	ENSG00000138622	HGNC:16882													
HCN4	gene	HCN4	Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome 8, OMIM:613123				27761167		False	1	25;0;75	14.21	False		ENSG00000138622	ENSG00000138622	HGNC:16882													
KCND3	gene	KCND3	South West GLH;London South GLH;Expert Review Red;Expert list	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome 9, OMIM:616399						False	1	0;0;100	14.21	False		ENSG00000171385	ENSG00000171385	HGNC:6239													
KCND3	gene	KCND3	Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology								False	1	0;0;100	14.21	False		ENSG00000171385	ENSG00000171385	HGNC:6239													
KCNE1	gene	KCNE1	North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Jervell and Lange-Nielsen syndrome 2, OMIM:612347;Long QT syndrome 5, OMIM:613695				16301704;26168993		False	1	50;0;50	14.21	False		ENSG00000180509	ENSG00000180509	HGNC:6240													
KCNE1	gene	KCNE1	South West GLH;Literature	Cardiac arrhythmias		Cardiology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990				16818210; doi:10. 1007/ s12265-016-9673-5		False	1	0;0;100	14.21	False		ENSG00000180509	ENSG00000180509	HGNC:6240													
KCNE2	gene	KCNE2	North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome-6 (613693);Atrial fibrillation, familial, 4 (611493)				16301704		False	1	50;0;50	14.21	False		ENSG00000159197	ENSG00000159197	HGNC:6242													
KCNE3	gene	KCNE3	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	Cardiac arrhythmias		Cardiology	Unknown	?Brugada syndrome 6, OMIM:613119				19122847;27761167		False	1	0;25;75	14.21	False		ENSG00000175538	ENSG00000175538	HGNC:6243													
KCNE3	gene	KCNE3	South West GLH;Literature	Cardiac arrhythmias		Cardiology	Unknown	Long QT syndrome; Brugada syndrome				19306396;doi:10. 1007/ s12265-016-9673-5;19306396		False	1	0;0;100	14.21	False		ENSG00000175538	ENSG00000175538	HGNC:6243													
KCNE3	gene	KCNE3	North West GLH;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Brugada syndrome 6 (613119)				16301704		False	1	0;50;50	14.21	False		ENSG00000175538	ENSG00000175538	HGNC:6243													
KCNE5	gene	KCNE5	Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	Unknown	Brugada syndrome, MONDO:0015263				29350269;30289750		False	1	0;0;100	14.21	False		ENSG00000176076	ENSG00000176076	HGNC:6241													
KCNE5	gene	KCNE5	Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology		atrial fibrillation;Brugada syndrome				29350269		False	1	0;0;100	14.21	False		ENSG00000176076	ENSG00000176076	HGNC:6241													
KCNH2	gene	KCNH2	Expert Review Red;South West GLH;Expert list	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome, MONDO:0015263				16043162;19174314;18692916		False	1	17;17;67	14.21	False		ENSG00000055118	ENSG00000055118	HGNC:6251													
KCNJ2	gene	KCNJ2	South West GLH;North West GLH;UKGTN;Expert list	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990				27761157		False	1	0;0;100	14.21	False		ENSG00000123700	ENSG00000123700	HGNC:6263													
KCNJ5	gene	KCNJ5	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperaldosteronism, familial, type III (613677);Long QT syndrome 13 (613485);Long QT syndrome 13				19716085		False	1	29;29;43	14.21	True		ENSG00000120457	ENSG00000120457	HGNC:6266													
KCNJ5	gene	KCNJ5	North West GLH;Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperaldosteronism, familial, type III (613677);Long QT syndrome 13 (613485)				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000120457	ENSG00000120457	HGNC:6266													
KCNJ8	gene	KCNJ8	South West GLH;London South GLH;Expert Review Red;Expert list	Cardiac arrhythmias		Cardiology	Unknown	Brugada syndrome, MONDO:0015263						False	1	0;0;100	14.21	False		ENSG00000121361	ENSG00000121361	HGNC:6269													
KCNJ8	gene	KCNJ8	Expert Review Red;Brugada syndrome (Version 1.7);Literature	Cardiac arrhythmias		Cardiology	Unknown	short qt;ventricular tachycardia;atrial fibrillation				21383000;15569843;27283775		False	1	0;0;100	14.21	False	Other	ENSG00000121361	ENSG00000121361	HGNC:6269													
LRP5	gene	LRP5	Expert Review Red;Literature	Cardiac arrhythmias		Cardiology	Unknown	short qt				30309679		False	1	0;0;100	14.21	False	Other	ENSG00000162337	ENSG00000162337	HGNC:6697													
MLIP	gene	MLIP	Literature	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138;Arrhythmia, HP:0011675				26436652;32719146;33802236;34581780;34935254		False	1	0;0;100	14.21	False		ENSG00000146147	ENSG00000146147	HGNC:21355													
NOS1AP	gene	NOS1AP	South West GLH;Expert list	Cardiac arrhythmias		Cardiology	Unknown							False	1	0;33;67	14.21	False		ENSG00000198929	ENSG00000198929	HGNC:16859													
NOS1AP	gene	NOS1AP	Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology								False	1	0;0;100	14.21	False		ENSG00000198929	ENSG00000198929	HGNC:16859													
PKP2	gene	PKP2	South West GLH;London South GLH;North West GLH;Literature	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome, MONDO:0015263				27085656;27761167		False	1	0;0;100	14.21	False		ENSG00000057294	ENSG00000057294	HGNC:9024													
PKP2	gene	PKP2	North West GLH;Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Arrhythmogenic right ventricular dysplasia 9 (609040)				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000057294	ENSG00000057294	HGNC:9024													
RANGRF	gene	RANGRF	Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology								False	1	0;0;100	14.21	False		ENSG00000108961	ENSG00000108961	HGNC:17679													
RANGRF	gene	RANGRF	South West GLH;London South GLH;Expert Review Red;Expert list	Cardiac arrhythmias		Cardiology	Unknown	Brugada syndrome, MONDO:0015263						False	1	0;33;67	14.21	False		ENSG00000108961	ENSG00000108961	HGNC:17679													
RYR2	gene	RYR2	North West GLH;Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000198626	ENSG00000198626	HGNC:10484													
RYR2	gene	RYR2	South West GLH;London South GLH;Literature	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Long QT syndrome; Catecholaminergic polymorphic ventricular tachycardia; Arrhythmogenic right ventricular cardiomyopathy; 				21126784; doi:10. 1007/ s12265-016-9673-5		False	1	0;67;33	14.21	False		ENSG00000198626	ENSG00000198626	HGNC:10484													
SCN10A	gene	SCN10A	North West GLH;Expert Review Red;Brugada syndrome (Version 1.7);Literature	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	J wave syndrome;short QT;Episodic pain syndrome, familial, 2 (615551);sudden death				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000185313	ENSG00000185313	HGNC:10582													
SCN10A	gene	SCN10A	Expert Review Red;South West GLH;London South GLH;North West GLH;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	Unknown	Brugada syndrome, MONDO:0015263				24998131;27761167		False	1	25;0;75	14.21	False		ENSG00000185313	ENSG00000185313	HGNC:10582													
SCN1B	gene	SCN1B	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiac conduction defect, nonspecific, OMIM:612838;Brugada syndrome 5, OMIM:612838;Atrial fibrillation, familial, 13, OMIM:615377				25253298;27761167		False	1	25;0;75	14.21	False		ENSG00000105711	ENSG00000105711	HGNC:10586													
SCN1B	gene	SCN1B	North West GLH;Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiac conduction defect, nonspecific, OMIM:612838;Brugada syndrome 5, OMIM:612838;Atrial fibrillation, familial, 13, OMIM:615377				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000105711	ENSG00000105711	HGNC:10586													
SCN2B	gene	SCN2B	Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome, MONDO:0015263						False	1	0;0;100	14.21	False		ENSG00000149575	ENSG00000149575	HGNC:10589													
SCN2B	gene	SCN2B	Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology								False	1	0;0;0	14.21	False		ENSG00000149575	ENSG00000149575	HGNC:10589													
SCN3B	gene	SCN3B	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome 7, OMIM:613120				23257389;27761167		False	1	25;0;75	14.21	False		ENSG00000166257	ENSG00000166257	HGNC:20665													
SCN3B	gene	SCN3B	North West GLH;Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000166257	ENSG00000166257	HGNC:20665													
SCN4B	gene	SCN4B	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	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome-10 ;Long QT syndrome-10 (611819)				17592081		False	1	0;14;86	14.21	False	Other - please provide details in the comments	ENSG00000177098	ENSG00000177098	HGNC:10592													
SCN4B	gene	SCN4B	North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000177098	ENSG00000177098	HGNC:10592													
SLC22A5	gene	SLC22A5	Expert Review Red;West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;Literature	Cardiac arrhythmias		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919				7254270;7131143;26190315;29198778;10545605;11261427		False	1	29;29;43	14.21	False		ENSG00000197375	ENSG00000197375	HGNC:10969													
SLMAP	gene	SLMAP	Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology								False	1	0;0;0	14.21	False		ENSG00000163681	ENSG00000163681	HGNC:16643													
SLMAP	gene	SLMAP	South West GLH;Expert Review Red;Expert list	Cardiac arrhythmias		Cardiology	Unknown	Brugada syndrome, MONDO:0015263						False	1	0;0;100	14.21	False		ENSG00000163681	ENSG00000163681	HGNC:16643													
SNTA1	gene	SNTA1	Expert Review Red;South West GLH;London South GLH;North West GLH;UKGTN;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 12 612955;Long QT syndrome 12 (612955)				19684871		False	1	17;33;50	14.21	True		ENSG00000101400	ENSG00000101400	HGNC:11167													
SNTA1	gene	SNTA1	North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 12 (612955)				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000101400	ENSG00000101400	HGNC:11167													
TRPM4	gene	TRPM4	Expert Review Red;South West GLH;North West GLH;Oxford Medical Genetics Laboratory	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome, MONDO:0015263				23382873;27761167		False	1	25;0;75	14.21	False		ENSG00000130529	ENSG00000130529	HGNC:17993													
TRPM4	gene	TRPM4	North West GLH;Brugada syndrome (Version 1.7)	Cardiac arrhythmias		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Progressive familial heart block, type IB (604559)				30420954;19862833;16301704		False	1	0;0;100	14.21	False		ENSG00000130529	ENSG00000130529	HGNC:17993