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
CAVIN4	gene	CAVIN4	South West GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	Unknown							False	1	0;100;0	3.15	False		ENSG00000170681	ENSG00000170681	HGNC:33742													
CTNNA3	gene	CTNNA3	Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;South West GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia, familial, 13,						False	1	0;0;100	3.15	False		ENSG00000183230	ENSG00000183230	HGNC:2511													
LDB3	gene	LDB3	Expert list;Expert Review Red;South West GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	1	0;33;67	3.15	False		ENSG00000122367	ENSG00000122367	HGNC:15710													
RBM20	gene	RBM20	London South GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology		Cardiomyopathy, dilated, 1DD 613172				29650543;22466703;22561820;30482687		False	1	25;25;50	3.15	False		ENSG00000203867	ENSG00000203867	HGNC:27424													
RYR2	gene	RYR2	Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH;Wessex and West Midlands GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 2;Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)				http://www.ncbi.nlm.nih.gov/books/NBK1131/;19926015;17875969;29567486;28404607		False	1	25;50;25	3.15	False		ENSG00000198626	ENSG00000198626	HGNC:10484													
SCN5A	gene	SCN5A	Literature;London South GLH;South West GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome; Brugada syndrome; Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy				24317018;doi:10. 1007/ s12265-016-9673-5;26916278;28069705		False	1	20;20;60	3.15	False		ENSG00000183873	ENSG00000183873	HGNC:10593													
TGFB3	gene	TGFB3	Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 1 						False	1	0;20;80	3.15	False		ENSG00000119699	ENSG00000119699	HGNC:11769													
TTN	gene	TTN	Expert list;Expert Review Red;London South GLH;South West GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1G, 604145				30535219;31251381;33106378		False	1	17;17;67	3.15	False		ENSG00000155657	ENSG00000155657	HGNC:12403													
