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;South West GLH	Progressive cardiac conduction disease		Cardiology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Desminopathy-associated AV conduction block;atrioventricular block (disease), MONDO:0000465				16376610;16890305		False	3	60;40;0	2.13	False		ENSG00000175084	ENSG00000175084	HGNC:2770													
EMD	gene	EMD	Expert Review Green;South West GLH	Progressive cardiac conduction disease		Cardiology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Heart conduction disease, MONDO:0000992				29349559		False	3	50;50;0	2.13	False		ENSG00000102119	ENSG00000102119	HGNC:3331													
GLA	gene	GLA	Expert Review Green;NHS GMS	Progressive cardiac conduction disease		Cardiology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fabry disease, cardiac variant, OMIM:301500						False	3	50;50;0	2.13	False		ENSG00000102393	ENSG00000102393	HGNC:4296													
HCN4	gene	HCN4	Expert Review Green;South West GLH	Progressive cardiac conduction disease		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sick sinus syndrome 2, OMIM:163800				19796353;16407510;12750403;17646576		False	3	75;25;0	2.13	False		ENSG00000138622	ENSG00000138622	HGNC:16882													
LAMP2	gene	LAMP2	Expert Review Green;NHS GMS	Progressive cardiac conduction disease		Cardiology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Danon disease, 300257						False	3	50;50;0	2.13	False		ENSG00000005893	ENSG00000005893	HGNC:6501													
LMNA	gene	LMNA	Expert list;Expert Review Green;London South GLH;South West GLH	Progressive cardiac conduction disease		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Laminopathy-associated AV conduction block;atrioventricular block (disease), MONDO:0000465				18035086;27884249;29095976;23582089		False	3	67;33;0	2.13	False		ENSG00000160789	ENSG00000160789	HGNC:6636													
NKX2-5	gene	NKX2-5	Expert Review Green;London South GLH;South West GLH	Progressive cardiac conduction disease		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial septal defect 7, with or without AV conduction defects OMIM:108900				28259982;15109497		False	3	50;50;0	2.13	False		ENSG00000183072	ENSG00000183072	HGNC:2488													
PRKAG2	gene	PRKAG2	Expert list;Expert Review Green;London South GLH	Progressive cardiac conduction disease		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Wolff-Parkinson-White syndrome, OMIM:194200				26729852;12015471;26085771		False	3	60;40;0	2.13	False		ENSG00000106617	ENSG00000106617	HGNC:9386													
SCN5A	gene	SCN5A	Expert list;Expert Review Green;London South GLH;South West GLH;Wessex and West Midlands GLH	Progressive cardiac conduction disease		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heart block, progressive, OMIM:113900;Heart block, progressive, type IA, OMIM:113900				11804990;16643399;15466643;15372490		False	3	71;29;0	2.13	False		ENSG00000183873	ENSG00000183873	HGNC:10593													
TNNI3K	gene	TNNI3K	Expert Review Green;Literature	Progressive cardiac conduction disease		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117				24925317;25791106;29355681;30010057		False	3	100;0;0	2.13	False		ENSG00000116783	ENSG00000116783	HGNC:19661													
TTR	gene	TTR	Expert Review Green;NHS GMS	Progressive cardiac conduction disease		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heart conduction disease, MONDO:0000992						False	3	50;50;0	2.13	False		ENSG00000118271	ENSG00000118271	HGNC:12405