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	Expert Review Green;Victorian Clinical Genetics Services	Long QT Syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Long QT syndrome 8, MIM#	618447;Timothy syndrome, MIM#	601005"			Prolonged QT interval;HP:0001657	31983240		False	3	100;0;0	0.61	True		ENSG00000151067	ENSG00000151067	HGNC:1390													
CALM1	gene	CALM1	Expert Review;Expert Review Green	Long QT Syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Long QT syndrome 14, MIM#	616247"			Prolonged QT interval;HP:0001657			False	3	100;0;0	0.61	True		ENSG00000198668	ENSG00000198668	HGNC:1442													
CALM2	gene	CALM2	Expert list;Expert Review Green	Long QT Syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Long QT syndrome 15, MIM#	616249"			Prolonged QT interval;HP:0001657	PMID: 31983240		False	3	100;0;0	0.61	True		ENSG00000143933	ENSG00000143933	HGNC:1445													
CALM3	gene	CALM3	Expert list;Expert Review Green	Long QT Syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Long QT syndrome 16, MIM#	618782"			Prolonged QT interval;HP:0001657	25460178;31454269		False	3	100;0;0	0.61	True		ENSG00000160014	ENSG00000160014	HGNC:1449													
KCNH2	gene	KCNH2	Expert Review Green;Victorian Clinical Genetics Services	Long QT Syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	long QT syndrome			Prolonged QT interval;HP:0001657	31983240		False	3	100;0;0	0.61	True		ENSG00000055118	ENSG00000055118	HGNC:6251													
KCNJ2	gene	KCNJ2	Expert Review Green;Victorian Clinical Genetics Services	Long QT Syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	long QT syndrome;Andersen-Tawil syndrome			Prolonged QT interval;HP:0001657	31983240		False	3	100;0;0	0.61	True		ENSG00000123700	ENSG00000123700	HGNC:6263													
KCNQ1	gene	KCNQ1	Expert Review Green;Victorian Clinical Genetics Services	Long QT Syndrome		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Atrial fibrillation, familial, 3 607554;Jervell and Lange-Nielsen syndrome 220400;Long QT syndrome 1, 192500;Short QT syndrome 2 609621			Prolonged QT interval;HP:0001657	20301308		False	3	100;0;0	0.61	True		ENSG00000053918	ENSG00000053918	HGNC:6294													
SCN5A	gene	SCN5A	Expert Review Green;Victorian Clinical Genetics Services	Long QT Syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 3 (MIM#603830)			Prolonged QT interval;HP:0001657	29798782		False	3	100;0;0	0.61	True		ENSG00000183873	ENSG00000183873	HGNC:10593													
TRDN	gene	TRDN	Expert list;Expert Review Green	Long QT Syndrome		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Long QT syndrome;Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM#	615441"			Prolonged QT interval;HP:0001657	31983240;25922419		False	3	100;0;0	0.61	True		ENSG00000186439	ENSG00000186439	HGNC:12261													
CAV3	gene	CAV3	Expert Review Amber;Victorian Clinical Genetics Services	Long QT Syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome 9, MIM# 611818			Prolonged QT interval;HP:0001657	31983240;17060380		False	2	0;100;0	0.61	True		ENSG00000182533	ENSG00000182533	HGNC:1529													
KCNE1	gene	KCNE1	Expert Review Amber;Victorian Clinical Genetics Services	Long QT Syndrome		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Jervell and Lange-Nielsen syndrome 2, MIM# 612347;Long QT syndrome 5, MIM# 613695;Acquired LQTS			Prolonged QT interval;HP:0001657	31983240		False	2	0;100;0	0.61	True		ENSG00000180509	ENSG00000180509	HGNC:6240													
KCNE2	gene	KCNE2	Expert Review Amber;Victorian Clinical Genetics Services	Long QT Syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome			Prolonged QT interval;HP:0001657	31983240;28794082		False	2	0;100;0	0.61	True		ENSG00000159197	ENSG00000159197	HGNC:6242