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	Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heterotaxy syndrome;Heterotaxy, visceral, 4, autosomal, 613751				doi:10.1016/j.ejmg.2005.12.003		False	3	0;0;0	0.10	False		ENSG00000114739	ENSG00000114739	HGNC:174													
NODAL	gene	NODAL	Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heterotaxy syndrome;Heterotaxy, visceral, 5, 270100;Visceral Heterotaxy, Heterotaxy, Visceral, 5, Autosomal				doi:10.1016/j.ejmg.2005.12.003		False	3	0;0;0	0.10	False		ENSG00000156574	ENSG00000156574	HGNC:7865													
ZIC3	gene	ZIC3	Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	x-linked Heterotaxy syndrome, Visceral, 1;Heterotaxy, visceral, 1, X-linked 306955;Visceral Heterotaxy, Heterotaxy, Visceral, 1, X-Linked				doi:10.1016/j.ejmg.2005.12.003		False	3	0;0;0	0.10	False		ENSG00000156925	ENSG00000156925	HGNC:12874													
ACTC1	gene	ACTC1	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Atrial septal defect;Atrial septal defect 5, 612794						False	2	0;0;0	0.10	False		ENSG00000159251	ENSG00000159251	HGNC:143													
CFC1	gene	CFC1	Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heterotaxy, visceral, 2, autosomal, 605376;Visceral Heterotaxy, Heterotaxy, Visceral, 2, Autosomal				doi:10.1016/j.ejmg.2005.12.003		False	2	0;0;0	0.10	False		ENSG00000136698	ENSG00000136698	HGNC:18292													
CRELD1	gene	CRELD1	Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Atrioventricular septal defect, partial, with heterotaxy syndrome, 2, 606217;Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217;Visceral Heterotaxy Atrioventricular Septal Defect, Susceptibility To, 2						False	2	0;0;0	0.10	False		ENSG00000163703	ENSG00000163703	HGNC:14630													
DNAH11	gene	DNAH11	Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884; situs inversus				DOI: 10.1161/CIRCULATIONAHA.106.649038		False	2	0;0;0	0.10	False		ENSG00000105877	ENSG00000105877	HGNC:2942													
DNAH5	gene	DNAH5	Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644; situs inversus				DOI: 10.1161/CIRCULATIONAHA.106.649038		False	2	0;0;0	0.10	False		ENSG00000039139	ENSG00000039139	HGNC:2950													
DNAI1	gene	DNAI1	Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400; situs inversus				DOI: 10.1161/CIRCULATIONAHA.106.649038		False	2	0;0;0	0.10	False		ENSG00000122735	ENSG00000122735	HGNC:2954													
GDF1	gene	GDF1	Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Right atrial isomerism ;Right atrial isomerism, 208530;Visceral Heterotaxy, Transposition Of The Great Arteries, Dextro-Looped 3						False	2	0;0;100	0.10	False		ENSG00000130283	ENSG00000130283	HGNC:4214													
MYH6	gene	MYH6	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Atrial septal defect;Atrial septal defect 3, 614089						False	2	0;0;0	0.10	False		ENSG00000197616	ENSG00000197616	HGNC:7576