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
ABL1	gene	ABL1	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital heart defects and skeletal malformations syndrome (MIM# 617602)				PMID: 28288113		False	3	100;0;0	0.430	True		ENSG00000097007	ENSG00000097007	HGNC:76													
ACTC1	gene	ACTC1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial septal defect 5, MIM# 612794				17947298;31430208;17611253;36945405		False	3	67;33;0	0.430	True		ENSG00000159251	ENSG00000159251	HGNC:143													
ACVR1	gene	ACVR1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease, MONDO:0005453				29089047;19506109;21248739		False	3	100;0;0	0.430	True		ENSG00000115170	ENSG00000115170	HGNC:171													
ADAMTS10	gene	ADAMTS10	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Weill-Marchesani syndrome 1, recessive, MIM# 277600				15368195;18567016;19836009		False	3	100;0;0	0.430	True		ENSG00000142303	ENSG00000142303	HGNC:13201													
ADAMTS19	gene	ADAMTS19	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiac valvular dysplasia 2, MIM# 620067				31844321		False	3	50;50;0	0.430	True		ENSG00000145808	ENSG00000145808	HGNC:17111													
AFF4	gene	AFF4	Expert Review;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"CHOPS syndrome, MIM#	616368;ventricular septal defect;patent ductus arteriosus;patent foramen ovale"				25730767;31058441		False	3	100;0;0	0.430	True		ENSG00000072364	ENSG00000072364	HGNC:17869													
AL117258.1	gene	AL117258.1	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Heterotaxy, MONDO:0018677;congenital heart defects				34903892		False	3	100;0;0	0.430	True		-	ENSG00000283654	HGNC:53647													
ALDH1A2	gene	ALDH1A2	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025				33565183;10192400		False	3	100;0;0	0.430	True		ENSG00000128918	ENSG00000128918	HGNC:15472													
AMOTL1	gene	AMOTL1	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related				36751037		False	3	100;0;0	0.430	True		ENSG00000166025	ENSG00000166025	HGNC:17811													
ANKRD11	gene	ANKRD11	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	KBG syndrome, MIM# 148050				27605097		False	3	100;0;0	0.430	True		ENSG00000167522	ENSG00000167522	HGNC:21316													
ARID1A	gene	ARID1A	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome MONDO:0015452				33803261		False	3	100;0;0	0.430	True		ENSG00000117713	ENSG00000117713	HGNC:11110													
ARID1B	gene	ARID1B	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 1, MIM# 135900				35579625;35445787;29549119;34324492		False	3	100;0;0	0.430	True		ENSG00000049618	ENSG00000049618	HGNC:18040													
B3GAT3	gene	B3GAT3	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600				26754439;31988067;26086840;25893793;21763480;24668659		False	3	100;0;0	0.430	True		ENSG00000149541	ENSG00000149541	HGNC:923													
BCOR	gene	BCOR	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Microphthalmia, syndromic 2, MIM# 300166;Oculofaciocardiodental syndrome;Lenz microphthalmia				29974297		False	3	100;0;0	0.430	True		ENSG00000183337	ENSG00000183337	HGNC:20893													
BMP2	gene	BMP2	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877				29198724		False	3	100;0;0	0.430	True		ENSG00000125845	ENSG00000125845	HGNC:1069													
BRAF	gene	BRAF	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome, 115150;Noonan syndrome 7, 613706				19206169;18042262		False	3	100;0;0	0.430	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000157764	ENSG00000157764	HGNC:1097													
CCDC22	gene	CCDC22	Expert Review;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ritscher-Schinzel syndrome 2, MIM# 300963				21826058;24916641;34020006;33059814;31971710		False	3	100;0;0	0.430	True		ENSG00000101997	ENSG00000101997	HGNC:28909													
CDK13	gene	CDK13	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360				29021403;29393965;30904094		False	3	100;0;0	0.430	True		ENSG00000065883	ENSG00000065883	HGNC:1733													
CFC1	gene	CFC1	Expert list;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heterotaxy, visceral, 2, MIM# 605376				31633655;18162845;25423076;11062482		False	3	50;0;50	0.430	True		ENSG00000136698	ENSG00000136698	HGNC:18292													
CHD4	gene	CHD4	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sifrim-Hitz-Weiss syndrome (MIM#617159)				31388190;31474762;27479907;27616479;24348274;37254794		False	3	100;0;0	0.430	True		ENSG00000111642	ENSG00000111642	HGNC:1919													
CHD7	gene	CHD7	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARGE syndrome (MIM# 214800)				31833191;15300250;16400610;16155193;17334995		False	3	100;0;0	0.430	True		ENSG00000171316	ENSG00000171316	HGNC:20626													
CITED2	gene	CITED2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial septal defect 8, 614433;Ventricular septal defect 2, 614431				11694877;16287139		False	3	100;0;0	0.430	True		ENSG00000164442	ENSG00000164442	HGNC:1987													
CREBBP	gene	CREBBP	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rubinstein-Taybi syndrome 1 , MIM#180849						False	3	100;0;0	0.430	True		ENSG00000005339	ENSG00000005339	HGNC:2348													
CTNNB1	gene	CTNNB1	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075				PMID: 37455656		False	3	100;0;0	0.430	True		ENSG00000168036	ENSG00000168036	HGNC:2514													
CUL3	gene	CUL3	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with or without autism or seizures (MIM#619239)				37665043		False	3	100;0;0	0.430	True		ENSG00000036257	ENSG00000036257	HGNC:2553													
DLG5	gene	DLG5	Expert list;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Yuksel-Vogel-Bauer syndrome, MIM#620703				32631816		False	3	100;0;0	0.430	True		ENSG00000151208	ENSG00000151208	HGNC:2904													
DLL4	gene	DLL4	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Adams-Oliver syndrome 6 MIM#616589				26299364;33899511;31261205;29924900		False	3	100;0;0	0.430	True		ENSG00000128917	ENSG00000128917	HGNC:2910													
DNAH11	gene	DNAH11	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital heart diseases;Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884				31040315;32633470		False	3	100;0;0	0.430	True		ENSG00000105877	ENSG00000105877	HGNC:2942													
DNAH5	gene	DNAH5	Expert list;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644				31638833		False	3	50;50;0	0.430	True		ENSG00000039139	ENSG00000039139	HGNC:2950													
DNAH9	gene	DNAH9	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 40 618300;Heterotaxy				35116053;35050399;30471717;30471718		False	3	100;0;0	0.430	True		ENSG00000007174	ENSG00000007174	HGNC:2953													
DOCK6	gene	DOCK6	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Adams-Oliver syndrome 2 MIM#614219				28160419;21820096;23522784;7606848;25824905;25824905;36789878		False	3	50;0;50	0.430	True		ENSG00000130158	ENSG00000130158	HGNC:19189													
DOHH	gene	DOHH	Expert list;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066				PMID: 35858628		False	3	100;0;0	0.430	True		ENSG00000129932	ENSG00000129932	HGNC:28662													
EFTUD2	gene	EFTUD2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mandibulofacial dysostosis, Guion-Almeida type (MIM#610536;MONDO:0012516)				23879989;32315467		False	3	100;0;0	0.430	True		ENSG00000108883	ENSG00000108883	HGNC:30858													
EHMT1	gene	EHMT1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kleefstra syndrome 1, MIM# 610253;MONDO:0027407				16826528;19264732;19293338;22670143;30448833		False	3	100;0;0	0.430	True		ENSG00000181090	ENSG00000181090	HGNC:24650													
ELN	gene	ELN	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Supravalvar aortic stenosis, MIM# 185500						False	3	100;0;0	0.430	True		ENSG00000049540	ENSG00000049540	HGNC:3327													
EP300	gene	EP300	Expert list;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rubinstein-Taybi syndrome 2, MIM# 613684				24352918;24476420		False	3	50;50;0	0.430	True		ENSG00000100393	ENSG00000100393	HGNC:3373													
ESCO2	gene	ESCO2	Expert list;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Roberts-SC phocomelia syndrome, MIM#	268300;Atrial septal defect;Ventricular septal defect;Pulmonic stenosis;tricuspid regurgitation"				19574259;31976146		False	3	100;0;0	0.430	True		ENSG00000171320	ENSG00000171320	HGNC:27230													
EVC	gene	EVC	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Ellis-van Creveld syndrome, MIM# 225500						False	3	100;0;0	0.430	True		ENSG00000072840	ENSG00000072840	HGNC:3497													
EVC2	gene	EVC2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Ellis-van Creveld syndrome (MIM#225500)						False	3	100;0;0	0.430	True		ENSG00000173040	ENSG00000173040	HGNC:19747													
FBN1	gene	FBN1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000166147	ENSG00000166147	HGNC:3603													
FGFR2	gene	FGFR2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000066468	ENSG00000066468	HGNC:3689													
FLNA	gene	FLNA	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000196924	ENSG00000196924	HGNC:3754													
FLT4	gene	FLT4	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart defects, multiple types, 7, MIM#618780				30232381		False	3	100;0;0	0.430	True		ENSG00000037280	ENSG00000037280	HGNC:3767													
FOXC1	gene	FOXC1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000054598	ENSG00000054598	HGNC:3800													
FOXC2	gene	FOXC2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000176692	ENSG00000176692	HGNC:3801													
FRYL	gene	FRYL	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pan-Chung-Bellen syndrome, MIM# 621049				38479391		False	3	100;0;0	0.430	True		ENSG00000075539	ENSG00000075539	HGNC:29127													
GATA4	gene	GATA4	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial septal defect 2 MIM#607941;Atrioventricular septal defect 4 MIM#614430;Ventricular septal defect 1 MIM#614429				15810002;12845333;22101736;18672102;24000169;29377543;28991257		False	3	100;0;0	0.430	True		ENSG00000136574	ENSG00000136574	HGNC:4173													
GATA6	gene	GATA6	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pancreatic agenesis and congenital heart defects, MIM# 600001				22158542;23223019;23635550		False	3	100;0;0	0.430	True		ENSG00000141448	ENSG00000141448	HGNC:4174													
GDF1	gene	GDF1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital heart defects, multiple types, 6 MIM#613854				33131162;35351224;32144877		False	3	100;0;0	0.430	True		ENSG00000130283	ENSG00000130283	HGNC:4214													
GJA1	gene	GJA1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000152661	ENSG00000152661	HGNC:4274													
GLI3	gene	GLI3	Expert list;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pallister-Hall syndrome, MIM# 146510;ASD, VSD, AVSD, aortic arch anomaly, PDA				24736735;7211952		False	3	100;0;0	0.430	True	Other	ENSG00000106571	ENSG00000106571	HGNC:4319													
GPC3	gene	GPC3	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000147257	ENSG00000147257	HGNC:4451													
HAAO	gene	HAAO	Expert list;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#	617660;Atrial septal defect;Hypoplastic left heart syndrome;Aortic stenosis;Mitral stenosis;Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis;Lsvc and left pulmonary artery arising from the ductus arteriosus;Shone syndrome with aortic coarctation"				28792876;33942433		False	3	100;0;0	0.430	True		ENSG00000162882	ENSG00000162882	HGNC:4796													
HDAC8	gene	HDAC8	Expert list;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Cornelia de Lange syndrome 5, MIM# 300882				24403048		False	3	100;0;0	0.430	True		ENSG00000147099	ENSG00000147099	HGNC:13315													
HNRNPK	gene	HNRNPK	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Au-Kline syndrome MIM#616580						False	3	100;0;0	0.430	True		ENSG00000165119	ENSG00000165119	HGNC:5044													
HRAS	gene	HRAS	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000174775	ENSG00000174775	HGNC:5173													
HSPA9	gene	HSPA9	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Even-plus syndrome, MIM#	616854;skeletal anomalies;congenital cardiac and renal anomalies: marked small nose"				26598328;32869452		False	3	100;0;0	0.430	True		ENSG00000113013	ENSG00000113013	HGNC:5244													
HYAL2	gene	HYAL2	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063				34906488;28081210;23172227;26515055		False	3	100;0;0	0.430	True		ENSG00000068001	ENSG00000068001	HGNC:5321													
IFT74	gene	IFT74	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Jeune syndrome (MONDO:0018770), IFT74-related				PMID: 37315079		False	3	0;0;0	0.430	True		ENSG00000096872	ENSG00000096872	HGNC:21424													
IGF2	gene	IGF2	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Silver-Russell syndrome 3 MIM#616489				PMID: 31544945		False	3	100;0;0	0.430	True		ENSG00000167244	ENSG00000167244	HGNC:5466													
INVS	gene	INVS	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 2, infantile, (MIM#602088)				12872123;19177160		False	3	100;0;0	0.430	True		ENSG00000119509	ENSG00000119509	HGNC:17870													
JAG1	gene	JAG1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alagille syndrome 1 #118450				26580007;19325125;11139239;9207787;9585603;11152664;32065591;12022040;20437614;36400760		False	3	100;0;0	0.430	True		ENSG00000101384	ENSG00000101384	HGNC:6188													
KANSL1	gene	KANSL1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Koolen-De Vries syndrome, MIM# 610443				26306646		False	3	100;0;0	0.430	True		ENSG00000120071	ENSG00000120071	HGNC:24565													
KAT6A	gene	KAT6A	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000083168	ENSG00000083168	HGNC:13013													
KAT6B	gene	KAT6B	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000156650	ENSG00000156650	HGNC:17582													
KDM2B	gene	KDM2B	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder MONDO#0700092, KDM2B-related				36322151		False	3	100;0;0	0.430	True		ENSG00000089094	ENSG00000089094	HGNC:13610													
KDM6A	gene	KDM6A	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000147050	ENSG00000147050	HGNC:12637													
KDR	gene	KDR	Expert list;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Tetralogy of Fallot, MONDO:0008542				34113005;34328347;30232381		False	3	25;50;25	0.430	True		ENSG00000128052	ENSG00000128052	HGNC:6307													
KMT2A	gene	KMT2A	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000118058	ENSG00000118058	HGNC:7132													
KMT2D	gene	KMT2D	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000167548	ENSG00000167548	HGNC:7133													
KRAS	gene	KRAS	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000133703	ENSG00000133703	HGNC:6407													
KYNU	gene	KYNU	Expert list;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Vertebral, cardiac, renal, and limb defects syndrome 2, MIM# 617661				28792876;33942433		False	3	100;0;0	0.430	True		ENSG00000115919	ENSG00000115919	HGNC:6469													
LZTR1	gene	LZTR1	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiac defects;hypertrophic cardiomyopathy;atrial septal defect;pulmonary stenosis;short stature;intellectual disabilities				PMID: 30368668;34184824		False	3	100;0;0	0.430	False		ENSG00000099949	ENSG00000099949	HGNC:6742													
MAP2K1	gene	MAP2K1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000169032	ENSG00000169032	HGNC:6840													
MAP2K2	gene	MAP2K2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000126934	ENSG00000126934	HGNC:6842													
MAP3K7	gene	MAP3K7	Expert Review Green;Other	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiospondylocarpofacial syndrome (CSCF) MIM# 157800;Frontometaphyseal dysplasia 2 (FMD2) MIM# 617137				PMID: 27426734;29467388;35730652;27426733		False	3	100;0;0	0.430	True		ENSG00000135341	ENSG00000135341	HGNC:6859													
MAP4K4	gene	MAP4K4	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	RASopathy, MONDO:0021060, MAP4K4-related				37126546		False	3	100;0;0	0.430	True		ENSG00000071054	ENSG00000071054	HGNC:6866													
MAPK1	gene	MAPK1	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 13 - MIM#619087				32721402		False	3	100;0;0	0.430	True		ENSG00000100030	ENSG00000100030	HGNC:6871													
MAPKAPK5	gene	MAPKAPK5	Expert Review;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Neurocardiofaciodigital syndrome, MIM# 619869				33442026		False	3	100;0;0	0.430	True		ENSG00000089022	ENSG00000089022	HGNC:6889													
MED12	gene	MED12	Expert Review Green;Other	Congenital Heart Defect		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Hardikar syndrome, MIM# 301068;Lujan-Fryns syndrome, MIM# 309520;Ohdo syndrome, X-linked, MIM# 300895				32682435;18973276;31255603;28724790;20301719		False	3	50;50;0	0.430	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000184634	ENSG00000184634	HGNC:11957													
MED13L	gene	MED13L	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000123066	ENSG00000123066	HGNC:22962													
MEIS2	gene	MEIS2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cleft palate, cardiac defects, and mental retardation (MIM#600987)				33427397;25712757		False	3	100;0;0	0.430	True		ENSG00000134138	ENSG00000134138	HGNC:7001													
MYH11	gene	MYH11	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;100;0	0.430	False		ENSG00000133392	ENSG00000133392	HGNC:7569													
MYH6	gene	MYH6	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	100;0;0	0.430	False		ENSG00000197616	ENSG00000197616	HGNC:7576													
MYH7	gene	MYH7	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ebstein anomaly				21127202		False	3	100;0;0	0.430	True	Other	ENSG00000092054	ENSG00000092054	HGNC:7577													
NAA15	gene	NAA15	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787				33103328;29656860;31127942;28191889;33557580;28990276		False	3	100;0;0	0.430	True		ENSG00000164134	ENSG00000164134	HGNC:30782													
NADSYN1	gene	NADSYN1	Expert Review;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077;Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845				31883644		False	3	100;0;0	0.430	True		ENSG00000172890	ENSG00000172890	HGNC:29832													
NF1	gene	NF1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000196712	ENSG00000196712	HGNC:7765													
NIPBL	gene	NIPBL	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000164190	ENSG00000164190	HGNC:28862													
NKX2-5	gene	NKX2-5	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ventricular septal defect 3 (MIM#614432);Tetralogy of Fallot (MIM#187500)				25742962;26805889		False	3	100;0;0	0.430	True		ENSG00000183072	ENSG00000183072	HGNC:2488													
NKX2-6	gene	NKX2-6	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Conotruncal heart malformations - MIM#217095;Persistent truncus arteriosus - MIM#217095				24421281;15649947;32198970;25380965;25319568		False	3	100;0;0	0.430	True		ENSG00000180053	ENSG00000180053	HGNC:32940													
NONO	gene	NONO	Expert list;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Mental retardation, X-linked, syndromic 34, MIM#	300967"				26571461;27329731;27550220		False	3	100;0;0	0.430	True		ENSG00000147140	ENSG00000147140	HGNC:7871													
NOTCH1	gene	NOTCH1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Adams-Oliver syndrome 5 (MIM#616028)				25963545;25132448		False	3	100;0;0	0.430	True		ENSG00000148400	ENSG00000148400	HGNC:7881													
NOTCH2	gene	NOTCH2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alagille syndrome 2 (MIM#610205);Hajdu-Cheney syndrome (MIM#102500)				16773578;21378985;21378989		False	3	100;0;0	0.430	True		ENSG00000134250	ENSG00000134250	HGNC:7882													
NPHP3	gene	NPHP3	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000113971	ENSG00000113971	HGNC:7907													
NPHP4	gene	NPHP4	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000131697	ENSG00000131697	HGNC:19104													
NR2F2	gene	NR2F2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	46,XX sex reversal 5 - MIM#618901;Congenital heart defects, multiple types, 4 - MIM#615779				24702954;29478779;31687637;27363585;29222010;29663647		False	3	100;0;0	0.430	True		ENSG00000185551	ENSG00000185551	HGNC:7976													
NRAS	gene	NRAS	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000213281	ENSG00000213281	HGNC:7989													
NSD1	gene	NSD1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000165671	ENSG00000165671	HGNC:14234													
NUP188	gene	NUP188	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Sandestig-Stefanova syndrome MIM 618804				PMID: 32021605;32275884		False	3	100;0;0	0.430	True		ENSG00000095319	ENSG00000095319	HGNC:17859													
PAN2	gene	PAN2	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Syndromic disease MONDO:0002254				PMID:35304602;29620724		False	3	100;0;0	0.430	True		ENSG00000135473	ENSG00000135473	HGNC:20074													
PBX1	gene	PBX1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000185630	ENSG00000185630	HGNC:8632													
PIGL	gene	PIGL	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"CHIME syndrome, MIIM#	280000"				22444671		False	3	100;0;0	0.430	True		ENSG00000108474	ENSG00000108474	HGNC:8966													
PITX2	gene	PITX2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000164093	ENSG00000164093	HGNC:9005													
PKD1L1	gene	PKD1L1	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Heterotaxy, visceral, 8, autosomal;HTX8 (MIM617205)				PMID: 27616478;31026592;3079108;30791085;33655537		False	3	100;0;0	0.430	True		ENSG00000158683	ENSG00000158683	HGNC:18053													
PLD1	gene	PLD1	Expert list;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Cardiac valvular defect, developmental, MIM#	212093;neonatal cardiomyopathy"				27799408;33645542		False	3	100;0;0	0.430	True		ENSG00000075651	ENSG00000075651	HGNC:9067													
PLXND1	gene	PLXND1	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital heart defects, multiple types, 9, MIM# 620294				35396997		False	3	100;0;0	0.430	True		ENSG00000004399	ENSG00000004399	HGNC:9107													
POLR1A	gene	POLR1A	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acrofacial dysostosis, Cincinnati type MIM#616462				PMID: 37075751		False	3	100;0;0	0.430	True		ENSG00000068654	ENSG00000068654	HGNC:17264													
PRDM6	gene	PRDM6	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000061455	ENSG00000061455	HGNC:9350													
PRKACA	gene	PRKACA	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardioacrofacial dysplasia 1, MIM# 619142;Postaxial hand polydactyly;Postaxial foot polydactyly;Common atrium;Atrioventricular canal defect;Narrow chest;Abnormality of the teeth;Intellectual disability				33058759;31130284		False	3	100;0;0	0.430	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000072062	ENSG00000072062	HGNC:9380													
PRKACB	gene	PRKACB	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardioacrofacial dysplasia 2, MIM# 619143;Postaxial hand polydactyly;Postaxial foot polydactyly;Common atrium;Atrioventricular canal defect;Narrow chest;Abnormality of the teeth;Intellectual disability				33058759		False	3	100;0;0	0.430	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000142875	ENSG00000142875	HGNC:9381													
PRKD1	gene	PRKD1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Congenital heart defects and ectodermal dysplasia, 617364;Autosomal Recessive Congenital Heart Disease				27479907;32817298;25713110;33919081		False	3	50;50;0	0.430	True	Other	ENSG00000184304	ENSG00000184304	HGNC:9407													
PTPN11	gene	PTPN11	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000179295	ENSG00000179295	HGNC:9644													
RAB23	gene	RAB23	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000112210	ENSG00000112210	HGNC:14263													
RAD21	gene	RAD21	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000164754	ENSG00000164754	HGNC:9811													
RAF1	gene	RAF1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000132155	ENSG00000132155	HGNC:9829													
RBFOX2	gene	RBFOX2	Expert Review;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	RBFOX2-related congenital heart disorder (MONDO:0100557)				26785492;27670201;27485310;25205790;35137168;26785492;37165897		False	3	100;0;0	0.430	True		ENSG00000100320	ENSG00000100320	HGNC:9906													
RERE	gene	RERE	ClinGen;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (OMIM #616975)				29330883;27087320;33772547;36053530		False	3	100;0;0	0.430	True		ENSG00000142599	ENSG00000142599	HGNC:9965													
RIT1	gene	RIT1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000143622	ENSG00000143622	HGNC:10023													
ROBO1	gene	ROBO1	Expert list;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tetralogy of Fallot;septal defects				28592524		False	3	100;0;0	0.430	True		ENSG00000169855	ENSG00000169855	HGNC:10249													
SALL1	gene	SALL1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000103449	ENSG00000103449	HGNC:10524													
SALL4	gene	SALL4	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000101115	ENSG00000101115	HGNC:15924													
SEMA3A	gene	SEMA3A	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	{Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897;congenital heart disease;short stature				28075028;33369061;20301509;21059704;24124006;22927827		False	3	100;0;0	0.430	True		ENSG00000075213	ENSG00000075213	HGNC:10723													
SF3B4	gene	SF3B4	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000143368	ENSG00000143368	HGNC:10771													
SHOC2	gene	SHOC2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like with loose anagen hair 1, MIM# 607721				19684605;23918763;20882035		False	3	100;0;0	0.430	True		ENSG00000108061	ENSG00000108061	HGNC:15454													
SLC37A4	gene	SLC37A4	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital disorder of glycosylation;liver dysfunction;coagulation deficiency				33964207		False	3	100;0;0	0.430	True		ENSG00000137700	ENSG00000137700	HGNC:4061													
SMAD2	gene	SMAD2	Expert Review;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loeys-Dietz syndrome 6, MIM# 619656;Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657				29967133;30157302;23665959		False	3	100;0;0	0.430	True		ENSG00000175387	ENSG00000175387	HGNC:6768													
SMAD3	gene	SMAD3	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000166949	ENSG00000166949	HGNC:6769													
SMAD4	gene	SMAD4	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000141646	ENSG00000141646	HGNC:6770													
SMAD6	gene	SMAD6	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000137834	ENSG00000137834	HGNC:6772													
SMARCA4	gene	SMARCA4	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000127616	ENSG00000127616	HGNC:11100													
SMARCB1	gene	SMARCB1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000099956	ENSG00000099956	HGNC:11103													
SMARCE1	gene	SMARCE1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000073584	ENSG00000073584	HGNC:11109													
SMC1A	gene	SMC1A	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	Unknown							False	3	0;0;0	0.430	False		ENSG00000072501	ENSG00000072501	HGNC:11111													
SMC3	gene	SMC3	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 3, MIM# 610759						False	3	100;0;0	0.430	True		ENSG00000108055	ENSG00000108055	HGNC:2468													
SMG9	gene	SMG9	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Heart and brain malformation syndrome, MIM# 616920				27018474;31390136;32412169;33609422		False	3	50;0;50	0.430	True		ENSG00000105771	ENSG00000105771	HGNC:25763													
SMO	gene	SMO	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Microcephaly, congenital heart disease, polydactyly, aganglionosis;Pallister-Hall-like syndrome	, MIM#241800"				32413283		False	3	100;0;0	0.430	True		ENSG00000128602	ENSG00000128602	HGNC:11119													
SMPD4	gene	SMPD4	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622				PMID: 36732302		False	3	100;0;0	0.430	True		ENSG00000136699	ENSG00000136699	HGNC:32949													
SON	gene	SON	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ZTTK syndrome, MIM# 617140				27545680;27545676;31005274		False	3	100;0;0	0.430	True		ENSG00000159140	ENSG00000159140	HGNC:11183													
SOS1	gene	SOS1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 4, MIM# 610733						False	3	100;0;0	0.430	True		ENSG00000115904	ENSG00000115904	HGNC:11187													
SPEN	gene	SPEN	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Radio-Tartaglia syndrome MIM#619312				PMID: 33596411		False	3	100;0;0	0.430	True		ENSG00000065526	ENSG00000065526	HGNC:17575													
SPRED2	gene	SPRED2	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Noonan syndrome 14, MIM# 619745				PMID: 34626534		False	3	100;0;0	0.430	True		ENSG00000198369	ENSG00000198369	HGNC:17722													
STK4	gene	STK4	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868;CD4/CD8 lymphopaenia;cardiac malformations;reduced na ve T cells;increased TEM and TEMRA cells;poor T cell Proliferation;Reduced memory B cells;Reduced IgM, increased IgG, IgA, IgE;impaired antibody responses;intermittent neutropaenia;bacterial/ viral/ fungal infections;autoimmune cytopaenias;mucocutaneous candidiasis;cutaneous warts				22294732;26117625;22174160;22952854		False	3	100;0;0	0.430	True		ENSG00000101109	ENSG00000101109	HGNC:11408													
STRA6	gene	STRA6	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, syndromic 9, MIM# 601186						False	3	100;0;0	0.430	True		ENSG00000137868	ENSG00000137868	HGNC:30650													
TAB2	gene	TAB2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like;Congenital heart defects, nonsyndromic, 2 (MIM#614980)				34456334		False	3	100;0;0	0.430	True		ENSG00000055208	ENSG00000055208	HGNC:17075													
TBX1	gene	TBX1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	DiGeorge syndrome (MIM#188400)				31428446;32110744;29250159;30137364;24998776;28272434		False	3	100;0;0	0.430	True		ENSG00000184058	ENSG00000184058	HGNC:11592													
TBX20	gene	TBX20	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial septal defect 4, MIM# 611363				17668378;19762328;33585493;29089047		False	3	100;0;0	0.430	True		ENSG00000164532	ENSG00000164532	HGNC:11598													
TBX3	gene	TBX3	Expert list;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Ulnar-mammary syndrome, MIM#	181450"						False	3	100;0;0	0.430	True		ENSG00000135111	ENSG00000135111	HGNC:11602													
TBX5	gene	TBX5	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holt-Oram syndrome, MIM# 142900						False	3	100;0;0	0.430	True		ENSG00000089225	ENSG00000089225	HGNC:11604													
TFAP2B	gene	TFAP2B	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Char syndrome, MIM# 169100;Patent ductus arteriosus 2, MIM# 617035				11505339;15684060;18752453;21643846		False	3	100;0;0	0.430	True		ENSG00000008196	ENSG00000008196	HGNC:11743													
TGFBR1	gene	TGFBR1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loeys-Dietz syndrome 1, MIM# 609192						False	3	100;0;0	0.430	True		ENSG00000106799	ENSG00000106799	HGNC:11772													
TGFBR2	gene	TGFBR2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loeys-Dietz syndrome 2, MIM# 610168						False	3	100;0;0	0.430	True		ENSG00000163513	ENSG00000163513	HGNC:11773													
THOC6	gene	THOC6	Expert Review Green;Other	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Beaulieu-Boycott-Innes syndrome (OMIM#613680)				35426486;30476144;32282736		False	3	50;50;0	0.430	True		ENSG00000131652	ENSG00000131652	HGNC:28369													
TLL1	gene	TLL1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial septal defect 6 MIM#613087				27418595;30538173;31570783;18830233;10331975		False	3	100;0;0	0.430	True		ENSG00000038295	ENSG00000038295	HGNC:11843													
TMEM260	gene	TMEM260	Expert list;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Structural heart defects and renal anomalies syndrome, MIM# 617478				28318500		False	3	100;0;0	0.430	True		ENSG00000070269	ENSG00000070269	HGNC:20185													
TMEM94	gene	TMEM94	Expert list;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	30526868				Intellectual developmental disorder with cardiac defects and dysmorphic facies		False	3	100;0;0	0.430	True		ENSG00000177728	ENSG00000177728	HGNC:28983													
TRAF7	gene	TRAF7	Expert Review;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164				32376980		False	3	100;0;0	0.430	True		ENSG00000131653	ENSG00000131653	HGNC:20456													
TTC25	gene	TTC25	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	primary ciliary dyskinesia 35 MONDO:0014910				34215651;33746037;27486780		False	3	100;0;0	0.430	True		ENSG00000204815	ENSG00000204815	HGNC:25280													
TXNL4A	gene	TXNL4A	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Burn-McKeown syndrome - MIM#608572				25434003;28905882		False	3	50;50;0	0.430	True		ENSG00000141759	ENSG00000141759	HGNC:30551													
UBR1	gene	UBR1	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Johanson-Blizzard syndrome (MIM#243800)				24599544		False	3	100;0;0	0.430	True		ENSG00000159459	ENSG00000159459	HGNC:16808													
UBR7	gene	UBR7	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Li-Campeau syndrome, MIM# 619189;Intellectual disability;epilepsy;hypothyroidism;congenital anomalies;dysmorphic features				33340455		False	3	100;0;0	0.430	True		ENSG00000012963	ENSG00000012963	HGNC:20344													
WASHC5	gene	WASHC5	ClinGen;Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Ritscher-Schinzel syndrome - MIM#220210;Ventricular septal defect;Atrial septal defect;Tetralogy of Fallot;Double outlet right ventricle;Hypoplastic left heart;Aortic stenosis;Pulmonic stenosis				PMID: 24065355;37840956;30896870;32349777;32349777		False	3	50;50;0	0.430	True		ENSG00000164961	ENSG00000164961	HGNC:28984													
WBP11	gene	WBP11	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227				33276377		False	3	100;0;0	0.430	True		ENSG00000084463	ENSG00000084463	HGNC:16461													
WLS	gene	WLS	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Zaki syndrome, MIM#619648				PMID: 34587386		False	3	100;0;0	0.430	True		ENSG00000116729	ENSG00000116729	HGNC:30238													
ZEB2	gene	ZEB2	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341				29300384;27831545;24715670;19215041;17958891		False	3	100;0;0	0.430	True		ENSG00000169554	ENSG00000169554	HGNC:14881													
ZIC3	gene	ZIC3	Expert Review Green;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Heterotaxy, visceral, 1, X-linked (MIM#306955)				27406248;30120289		False	3	100;0;0	0.430	True		ENSG00000156925	ENSG00000156925	HGNC:12874													
ZMYM2	gene	ZMYM2	Expert Review;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522				32891193		False	3	100;0;0	0.430	True		ENSG00000121741	ENSG00000121741	HGNC:12989													
ZMYND10	gene	ZMYND10	Expert Review Green;Other	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia 22 MONDO:0014192				23891471;23891469;29402277		False	3	100;0;0	0.430	True		ENSG00000004838	ENSG00000004838	HGNC:19412													
ZMYND8	gene	ZMYND8	Expert Review;Expert Review Green	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related;Delayed speech and language development;Motor delay;Intellectual disability;Abnormality of cardiovascular system morphology;Hearing abnormality;Abnormality of vision;Abnormality of the face;Seizures				35916866;32530565		False	3	100;0;0	0.430	True		ENSG00000101040	ENSG00000101040	HGNC:9397													
ZNF699	gene	ZNF699	Expert Review Green;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	DEGCAGS syndrome, MIM# 619488				33875846		False	3	100;0;0	0.430	True		ENSG00000196110	ENSG00000196110	HGNC:24750													
BCL9L	gene	BCL9L	Expert list;Expert Review Amber;Literature;Other	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital Heart Disease;Heterotaxy				23035047;8757136;30366904		False	2	0;100;0	0.430	True		ENSG00000186174	ENSG00000186174	HGNC:23688													
FBRSL1	gene	FBRSL1	Expert Review Amber;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Malformation and intellectual disability syndrome				PMID: 32424618		False	2	0;100;0	0.430	True		ENSG00000112787	ENSG00000112787	HGNC:29308													
FGF8	gene	FGF8	Expert list;Expert Review Amber	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease MONDO:0005453, FGF8-related				32664970;7768185;32664970;10603341;19509466;9462741;10603341;12223415		False	2	0;100;0	0.430	True		ENSG00000107831	ENSG00000107831	HGNC:3686													
FOXH1	gene	FOXH1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease, MONDO:0005453, FOXH1-related				18538293;19933292;32003456;12094232;16304598		False	2	0;100;0	0.430	True		ENSG00000160973	ENSG00000160973	HGNC:3814													
FOXP1	gene	FOXP1	Expert list;Expert Review Amber;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670;Atrial septal defect;Atrioventricular septal defect;Patent ductus arteriosus;Pulmonic stenosis;Hypoplastic left heart syndrome				29090079;23766104		False	2	0;100;0	0.430	True		ENSG00000114861	ENSG00000114861	HGNC:3823													
GATA5	gene	GATA5	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Congenital heart defects, multiple types, 5 - #617912				28180938;27066509;34461831;30229885;28285006;25543888;25515806;24796370;23295592;23289003;22961344		False	2	0;100;0	0.430	True		ENSG00000130700	ENSG00000130700	HGNC:15802													
HAND1	gene	HAND1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease, MONDO:0005453				31286141;29016838;29317578;29179274;28112363;27942761;26581070		False	2	0;100;0	0.430	True		ENSG00000113196	ENSG00000113196	HGNC:4807													
HAND2	gene	HAND2	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease, MONDO:0005453, HAND2-related				26865696;32134193;26676105;30217752;20819618;36427970		False	2	0;100;0	0.430	True		ENSG00000164107	ENSG00000164107	HGNC:4808													
LAMA3	gene	LAMA3	Expert Review Amber;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ebstein anomaly MONDO:0009144				37635785		False	2	0;100;0	0.430	True		ENSG00000053747	ENSG00000053747	HGNC:6483													
MESP1	gene	MESP1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease, MONDO:0005453, MESP1-related				28677747;28050627;27185833;26694203		False	2	0;100;0	0.430	True		ENSG00000166823	ENSG00000166823	HGNC:29658													
MIB1	gene	MIB1	Expert Review;Expert Review Amber	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease				33057194		False	2	0;100;0	0.430	True		ENSG00000101752	ENSG00000101752	HGNC:21086													
MMP15	gene	MMP15	Expert Review Amber;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cholestasis;Congenital heart disease				33875846		False	2	0;100;0	0.430	True		ENSG00000102996	ENSG00000102996	HGNC:7161													
MYBPC3	gene	MYBPC3	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, hypertrophic, 4, MIM# 115197				25335496;16679492		False	2	50;50;0	0.430	True		ENSG00000134571	ENSG00000134571	HGNC:7551													
MYOCD	gene	MYOCD	Expert Review Amber;Literature	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Megabladder;congenital heart disease;cardiomyopathy				31513549		False	2	0;100;0	0.430	True		ENSG00000141052	ENSG00000141052	HGNC:16067													
NODAL	gene	NODAL	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heterotaxy, visceral, 5 (MIM#270100)				9354794;19064609;29368431;19933292;11311163;30293987		False	2	0;100;0	0.430	True		ENSG00000156574	ENSG00000156574	HGNC:7865													
PIGV	gene	PIGV	Expert Review Amber;Other	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with impaired intellectual development syndrome 1, MIM# 239300				PMID: 37372388;24129430;37390992;20802478		False	2	0;50;50	0.430	True	Other	ENSG00000060642	ENSG00000060642	HGNC:26031													
ROBO4	gene	ROBO4	Expert Review Amber;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic valve disease 8, MIM# 618496;bicuspid aortic valve;ascending aortic aneurysm;ascending aorta dilatation				30455415		False	2	50;50;0	0.430	True		ENSG00000154133	ENSG00000154133	HGNC:17985													
ROCK2	gene	ROCK2	ClinGen;Expert Review Amber	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	congenital heart disease MONDO:0005453				28554332, 30622330, 31941532		False	2	0;100;0	0.430	True		ENSG00000134318	ENSG00000134318	HGNC:10252													
TAF1	gene	TAF1	Expert Review Amber;Literature	Congenital Heart Defect		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic 33 300966;congenital cardiac disease and global developmental delay				PMID: 32396742;31646703;26637982;31341187		False	2	0;100;0	0.430	True		ENSG00000147133	ENSG00000147133	HGNC:11535													
TBX2	gene	TBX2	Expert list;Expert Review Amber	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM#	618223"				29726930		False	2	0;100;0	0.430	True		ENSG00000121068	ENSG00000121068	HGNC:11597													
TKT	gene	TKT	Expert Review;Expert Review Amber	Congenital Heart Defect		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Short stature, developmental delay, and congenital heart defects;OMIM #617044				27259054		False	2	0;100;0	0.430	True		ENSG00000163931	ENSG00000163931	HGNC:11834													
ZFPM2	gene	ZFPM2	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tetralogy of Fallot, MIM# 187500				21919901;24469719;26959486		False	2	0;100;0	0.430	True		ENSG00000169946	ENSG00000169946	HGNC:16700													
ZNRF3	gene	ZNRF3	Expert Review Amber;Literature	Congenital Heart Defect		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	complex neurodevelopmental disorder MONDO:0100038				39168120		False	2	0;100;0	0.430	True		ENSG00000183579	ENSG00000183579	HGNC:18126