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 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 0.9 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 0.9 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 0.9 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 0.9 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 0.9 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 0.9 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 0.9 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 0.9 False ENSG00000197616 ENSG00000197616 HGNC:7576