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
ACVR2B	gene	ACVR2B	Expert Review Red;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heterotaxy, visceral, 4, autosomal 613751				9916847;30622330;21864452		False	1	0;0;100	0.430	True		ENSG00000114739	ENSG00000114739	HGNC:174													
BMPR2	gene	BMPR2	Expert Review Red;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Pulmonary venoocclusive disease 1 MIM#265450						False	1	0;0;100	0.430	True		ENSG00000204217	ENSG00000204217	HGNC:1078													
CHST14	gene	CHST14	Expert list;Expert Review Red;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776				20503305		False	1	0;0;100	0.430	True		ENSG00000169105	ENSG00000169105	HGNC:24464													
CRELD1	gene	CRELD1	Expert Review Red;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrioventricular septal defect, susceptibility to, 2;Atrioventricular septal defect, partial, with heterotaxy syndrome MIM#606217				22740159;12632326;23040494;25328912;24697899;33773999		False	1	0;0;100	0.430	True		ENSG00000163703	ENSG00000163703	HGNC:14630													
HEY2	gene	HEY2	Expert Review Red;Literature	Congenital Heart Defect		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	congenital heart defects and thoracic aortic aneurysms				PMID: 32820247		False	1	0;0;100	0.430	True		ENSG00000135547	ENSG00000135547	HGNC:4881													
IRX4	gene	IRX4	Expert list;Expert Review Red	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ventricular septal defect				21544582		False	1	0;0;100	0.430	True		ENSG00000113430	ENSG00000113430	HGNC:6129													
KMT2B	gene	KMT2B	Expert Review Red;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dystonia 28,Childhood-onset;DYT28(617284);Intellectual Developmental disorder, Autosomal dominant;MRD68(619934)				29276005;23426673;33150406;23665959;37504561;28902362;21646717		False	1	0;50;50	0.430	True		ENSG00000272333	ENSG00000272333	HGNC:15840													
LTBP2	gene	LTBP2	Expert Review Red;Literature	Congenital Heart Defect		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Atrioventricular septal defect (AVSD);Mitral valve prolapse;patent ductus arteriosus (PDA);secondary atrial septal defect;pulmonary hypertension;polydactyly				33098376;35245370;31512380;22539340;30565850		False	1	0;0;100	0.430	True	Other	ENSG00000119681	ENSG00000119681	HGNC:6715													
MCF2L	gene	MCF2L	Expert Review Red;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	vascular malformation MONDO:0024291, MCF2L-related				36760094		False	1	0;0;100	0.430	True		ENSG00000126217	ENSG00000126217	HGNC:14576													
MEF2C	gene	MEF2C	Expert list;Expert Review Red	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease				29104469;22498567;26811383		False	1	0;0;100	0.430	True		ENSG00000081189	ENSG00000081189	HGNC:6996													
WDR47	gene	WDR47	Expert Review Red;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease MONDO:0005453				35474353;39609633		False	1	0;0;100	0.430	True		ENSG00000085433	ENSG00000085433	HGNC:29141