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	Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;North West GLH;South West GLH;UKGTN	Long QT syndrome		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	3.12	False		ENSG00000151067	ENSG00000151067	HGNC:1390													
CALM1	gene	CALM1	Expert Review Green;London South GLH;Oxford Medical Genetics Laboratory;South West GLH	Long QT syndrome		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4						False	3	33;67;0	3.12	False		ENSG00000198668	ENSG00000198668	HGNC:1442													
CALM2	gene	CALM2	Expert Review Green;Oxford Medical Genetics Laboratory;South West GLH	Long QT syndrome		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	3.12	False		ENSG00000143933	ENSG00000143933	HGNC:1445													
CALM3	gene	CALM3	Expert Review Green;Oxford Medical Genetics Laboratory;South West GLH	Long QT syndrome		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782;Long QT syndrome 16,618782						False	3	20;60;20	3.12	False		ENSG00000160014	ENSG00000160014	HGNC:1449													
KCNE1	gene	KCNE1	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Long QT syndrome		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	3.12	False		ENSG00000180509	ENSG00000180509	HGNC:6240													
KCNH2	gene	KCNH2	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Long QT syndrome		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	3.12	False		ENSG00000055118	ENSG00000055118	HGNC:6251													
KCNJ2	gene	KCNJ2	Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;North West GLH;South West GLH;UKGTN	Long QT syndrome		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	3.12	False		ENSG00000123700	ENSG00000123700	HGNC:6263													
KCNQ1	gene	KCNQ1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Long QT syndrome		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	3.12	False		ENSG00000053918	ENSG00000053918	HGNC:6294													
SCN5A	gene	SCN5A	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Long QT syndrome		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	3.12	False		ENSG00000183873	ENSG00000183873	HGNC:10593													
