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 AGPAT2 gene AGPAT2 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome; situs inversus False 1 0;0;0 0.10 False ENSG00000169692 ENSG00000169692 HGNC:325 CCDC103 gene CCDC103 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC39 gene CCDC39 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000141519 ENSG00000141519 HGNC:26090 CFAP53 gene CFAP53 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Visceral Heterotaxy; Heterotaxy, Visceral, 6, Autosomal False 1 0;0;0 0.10 False ENSG00000172361 ENSG00000172361 HGNC:26530 CITED2 gene CITED2 Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 8, 614433 False 1 0;0;0 0.10 False ENSG00000164442 ENSG00000164442 HGNC:1987 DNAAF1 gene DNAAF1 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF5 gene DNAAF5 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAI2 gene DNAI2 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAL1 gene DNAL1 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000119661 ENSG00000119661 HGNC:23247 FOXH1 gene FOXH1 Literature Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders DOI: 10.1513/pats.201103-025SD False 1 0;0;0 0.10 False ENSG00000160973 ENSG00000160973 HGNC:3814 GATA4 gene GATA4 Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 2,607941; Atrioventricular septal defect 4,614430 False 1 0;0;0 0.10 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATA5 gene GATA5 Literature;Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Atrial septal defect (Jiang (2013) Int J Cardiol 165,570) doi: 10.1002/mgg3.190 False 1 0;0;0 0.10 False ENSG00000130700 ENSG00000130700 HGNC:15802 GATA6 gene GATA6 Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrioventricular septal defect 5, 614474; Atrial septal defect 9, 614475 False 1 0;0;0 0.10 False ENSG00000141448 ENSG00000141448 HGNC:4174 GJA1 gene GJA1 Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrioventricular septal defect 3,600309 False 1 0;0;0 0.10 False ENSG00000152661 ENSG00000152661 HGNC:4274 HYDIN gene HYDIN UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000157423 ENSG00000157423 HGNC:19368 LEFTY2 gene LEFTY2 Illumina TruGenome Clinical Sequencing Services;Literature Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy syndrome doi:10.1016/j.ejmg.2005.12.003 False 1 0;0;0 0.10 False ENSG00000143768 ENSG00000143768 HGNC:3122 LRRC6 gene LRRC6 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000129295 ENSG00000129295 HGNC:16725 LZTFL1 gene LZTFL1 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Visceral Heterotaxy; Bardet-Biedl Syndrome 17 False 1 0;0;0 0.10 False ENSG00000163818 ENSG00000163818 HGNC:6741 MMP21 gene MMP21 Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Heterotaxy,visceral,7,autosomal,616749 False 1 0;0;0 0.10 False ENSG00000154485 ENSG00000154485 HGNC:14357 NKX2-5 gene NKX2-5 Literature;Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 7, with or without AV conduction defects, 108900 doi:10.1016/j.ejmg.2005.12.003 False 1 0;0;0 0.10 False ENSG00000183072 ENSG00000183072 HGNC:2488 NME8 gene NME8 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome; situs inversus False 1 0;0;0 0.10 False ENSG00000086288 ENSG00000086288 HGNC:16473 NPHP4 gene NPHP4 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Visceral Heterotaxy, Nephronophthisis 4 False 1 0;0;0 0.10 False ENSG00000131697 ENSG00000131697 HGNC:19104 OFD1 gene OFD1 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome; situs inversus False 1 0;0;0 0.10 False ENSG00000046651 ENSG00000046651 HGNC:2567 RPGR gene RPGR UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome; situs inversus False 1 0;0;0 0.10 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPSA gene RPSA Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Asplenia, isolated congenital, 271400 False 1 0;0;0 0.10 False ENSG00000168028 ENSG00000168028 HGNC:6502 RSPH4A gene RSPH4A UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 UKGTN Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Primary Ciliary Dyskinesia; situs inversus False 1 0;0;0 0.10 False ENSG00000172426 ENSG00000172426 HGNC:21057 SHROOM3 gene SHROOM3 Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Heterotaxy (Tariq (2011) Genome Biol 12,R91) False 1 0;0;0 0.10 False ENSG00000138771 ENSG00000138771 HGNC:30422 TBX20 gene TBX20 Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders Atrial septal defect 4, 611363 False 1 0;0;0 0.10 False ENSG00000164532 ENSG00000164532 HGNC:11598 TLL1 gene TLL1 Radboud University Medical Center, Nijmegen Isomerism and laterality disorders Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 6, 613087 False 1 0;0;0 0.10 False ENSG00000038295 ENSG00000038295 HGNC:11843