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 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