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 0.540 True ENSG00000186174 ENSG00000186174 HGNC:23688 DHRS3 gene DHRS3 Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Craniosynostosis-scoliosis syndrome, MIM# 621499 40519748 False 2 0;100;0 0.540 True ENSG00000162496 ENSG00000162496 HGNC:17693 DMRT2 gene DMRT2 Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523 PMID: 41014130;29681102;16387292 False 2 0;100;0 0.540 True ENSG00000173253 ENSG00000173253 HGNC:2935 DZIP1 gene DZIP1 Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted mitral valve prolapse MONDO:0004910 33811421;31118289 False 2 0;100;0 0.540 False ENSG00000134874 ENSG00000134874 HGNC:20908 ERBB2 gene ERBB2 Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease - left ventricular outflow tract obstruction defects;MONDO:0005453 40329538 False 2 0;100;0 0.540 True ENSG00000141736 ENSG00000141736 HGNC:3430 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 0.540 True ENSG00000112787 ENSG00000112787 HGNC:29308 FGD5 gene FGD5 Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease - MONDO:0005453, FGD5-related 41574350;41199744;32037394;30232381 False 2 0;50;50 0.540 True ENSG00000154783 ENSG00000154783 HGNC:19117 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 0.540 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 0.540 True ENSG00000160973 ENSG00000160973 HGNC:3814 FRYL gene FRYL Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pan-Chung-Bellen syndrome, MIM# 621049 38479391 False 2 50;50;0 0.540 True ENSG00000075539 ENSG00000075539 HGNC:29127 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 0.540 True ENSG00000130700 ENSG00000130700 HGNC:15802 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 0.540 True ENSG00000164107 ENSG00000164107 HGNC:4808 HEY2 gene HEY2 Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Congenital heart disease, MONDO:0005453, HEY2-related PMID: 32820247;40481234 False 2 0;50;50 0.540 True ENSG00000135547 ENSG00000135547 HGNC:4881 KLF13 gene KLF13 Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease MONDO:0005453 - KLF13-related PMID: 32293321;35369534;33215447 False 2 0;100;0 0.540 True ENSG00000169926 ENSG00000169926 HGNC:13672 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 0.540 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 0.540 True ENSG00000166823 ENSG00000166823 HGNC:29658 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 0.540 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 0.540 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 0.540 True ENSG00000141052 ENSG00000141052 HGNC:16067 NAA16 gene NAA16 Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart disease, MONDO:0005453, NAA16-related 41148812;23665959;28991257 False 2 0;100;0 0.540 True ENSG00000172766 ENSG00000172766 HGNC:26164 NFE2L2 gene NFE2L2 Expert Review;Expert Review Amber Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744 29018201 False 2 0;100;0 0.540 True ENSG00000116044 ENSG00000116044 HGNC:7782 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 0.540 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 0.540 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 0.540 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 0.540 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 0.540 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 0.540 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 0.540 True ENSG00000163931 ENSG00000163931 HGNC:11834 ZDHHC18 gene ZDHHC18 Expert Review Amber;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital heart disease MONDO:0005453 41022857 False 2 0;100;0 0.540 True ENSG00000204160 ENSG00000204160 HGNC:20712 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 0.540 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 0.540 True ENSG00000183579 ENSG00000183579 HGNC:18126