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 Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	heart conduction disease MONDO:0000992			Cardiac conduction abnormality;HP:0031546	39252922;16376610;16890305		False	3	100;0;0	1.6	True		ENSG00000175084	ENSG00000175084	HGNC:2770													
EMD	gene	EMD	Expert Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	heart conduction disease MONDO:0000992			Cardiac conduction abnormality;HP:0031546	32755394;31802929;11385714		False	3	100;0;0	1.6	False		ENSG00000102119	ENSG00000102119	HGNC:3331													
GLA	gene	GLA	Expert Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Fabry disease	MONDO:0010526"			Cardiac conduction abnormality;HP:0031546	34067605;34266644;31286959;28668140		False	3	100;0;0	1.6	True		ENSG00000102393	ENSG00000102393	HGNC:4296													
HCN4	gene	HCN4	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Cardiac conduction disease		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sick sinus syndrome MONDO:0001823			Cardiac conduction abnormality;HP:0031546	21220308;15123648;29447731;12750403;16407510;17646576;25145518		False	3	100;0;0	1.6	True		ENSG00000138622	ENSG00000138622	HGNC:16882													
LAMP2	gene	LAMP2	Expert Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Danon disease MONDO:0010281			Cardiac conduction abnormality;HP:0031546	25228319;30857840		False	3	100;0;0	1.6	True		ENSG00000005893	ENSG00000005893	HGNC:6501													
LMNA	gene	LMNA	Expert Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	atrioventricular block MONDO:0000465			Cardiac conduction abnormality;HP:0031546	18035086;27884249;20301717		False	3	100;0;0	1.6	True		ENSG00000160789	ENSG00000160789	HGNC:6636													
NKX2-5	gene	NKX2-5	Expert Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	NKX2.5-related congenital, conduction and myopathic heart disease MONDO:0800441			Cardiac conduction abnormality;HP:0031546	28259982;15109497;37697673		False	3	100;0;0	1.6	True		ENSG00000183072	ENSG00000183072	HGNC:2488													
POPDC2	gene	POPDC2	Expert Review Green;Literature;Other	Cardiac conduction disease		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367			Cardiac conduction abnormality;HP:0031546	39006410;32535041		False	3	100;0;0	1.6	True		ENSG00000121577	ENSG00000121577	HGNC:17648													
PRKAG2	gene	PRKAG2	Expert Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	PRKAG2-related cardiomyopathy MONDO:0800484			Cardiac conduction abnormality;HP:0031546	26729852;32646569		False	3	100;0;0	1.6	True		ENSG00000106617	ENSG00000106617	HGNC:9386													
SCN5A	gene	SCN5A	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Cardiac conduction disease		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	progressive familial heart block MONDO:0019490;SCN5A-related cardiac rhythm disorder MONDO:1010181			Cardiac conduction abnormality;HP:0031546	39134129;11804990;16643399;15466643		False	3	100;0;0	1.6	False		ENSG00000183873	ENSG00000183873	HGNC:10593													
TBX5	gene	TBX5	Expert Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holt-Oram syndrome MONDO:0007732			Cardiac conduction abnormality;HP:0031546	20301290		False	3	100;0;0	1.6	True		ENSG00000089225	ENSG00000089225	HGNC:11604													
TNNI3K	gene	TNNI3K	Expert Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	atrial conduction disease MONDO:0014500			Cardiac conduction abnormality;HP:0031546	25791106;24925317;30010057;29355681		False	3	100;0;0	1.6	True		ENSG00000116783	ENSG00000116783	HGNC:19661													
TTR	gene	TTR	Expert Review Green;NHS GMS	Cardiac conduction disease		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hereditary amyloidosis MONDO:0018634			Cardiac conduction abnormality;HP:0031546	35074177;39196575		False	3	100;0;0	1.6	True		ENSG00000118271	ENSG00000118271	HGNC:12405