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
DES	gene	DES	Expert list;Expert Review Green;London South GLH;South West GLH;UKGTN	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1I (604765);Myopathy, myofibrillar, 1 (601419);Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)				29567486;23168288;30370089;20829228;25921558;29212896		False	3	43;43;14	3.15	False		ENSG00000175084	ENSG00000175084	HGNC:2770													
DSC2	gene	DSC2	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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)				27532257;23500315;29567486		False	3	86;14;0	3.15	False		ENSG00000134755	ENSG00000134755	HGNC:3036													
DSG2	gene	DSG2	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1BB (612877);Arrhythmogenic right ventricular dysplasia 10 ;Arrhythmogenic right ventricular dysplasia 10 (610193)				27532257;23500315;29567486		False	3	86;14;0	3.15	False		ENSG00000046604	ENSG00000046604	HGNC:3049													
DSP	gene	DSP	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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)				27532257;23500315;35348702		False	3	86;14;0	3.15	False		ENSG00000096696	ENSG00000096696	HGNC:3052													
FLNC	gene	FLNC	Expert Review Green;Wessex and West Midlands GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883				27908349;26666891;31924696		False	3	100;0;0	3.15	True		ENSG00000128591	ENSG00000128591	HGNC:3756													
JUP	gene	JUP	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Naxos disease, OMIM:601214;Arrhythmogenic right ventricular dysplasia 12, OMIM:611528				27532257;23500315		False	3	86;14;0	3.15	False		ENSG00000173801	ENSG00000173801	HGNC:6207													
LMNA	gene	LMNA	Expert list;Expert Review Green;London South GLH;South West GLH;UKGTN	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	LMNA-related DCM				35348702		False	3	33;33;33	3.15	False		ENSG00000160789	ENSG00000160789	HGNC:6636													
PKP2	gene	PKP2	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 9 (609040);Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9  				27532257;23500315		False	3	86;14;0	3.15	False		ENSG00000057294	ENSG00000057294	HGNC:9024													
PLN	gene	PLN	Expert list;Expert Review Green;London South GLH;South West GLH;Wessex and West Midlands GLH	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, hypertrophic, 18 (613874)				22820313;28102477;23595706;23568436;24909667;25700660;30763825;28102477		False	3	57;29;14	3.15	True		ENSG00000198523	ENSG00000198523	HGNC:9080													
TMEM43	gene	TMEM43	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 5 (604400);Arrhythmogenic right ventricular dysplasia 5 ;Emery-Dreifuss muscular dystrophy 7, AD (614302)				27532257;23812740;29567486;26840987		False	3	86;14;0	3.15	False		ENSG00000170876	ENSG00000170876	HGNC:28472													
ANK2	gene	ANK2	Expert Review Amber;NHS GMS	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	2	0;100;0	3.15	False		ENSG00000145362	ENSG00000145362	HGNC:493													
CDH2	gene	CDH2	Expert list;Expert Review Amber	Arrhythmogenic right ventricular cardiomyopathy		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Arrhythmogenic right ventricular dysplasia, familial, 14, 618920				28326674;28280076;24294380		False	2	33;67;0	3.15	False		ENSG00000170558	ENSG00000170558	HGNC:1759