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 ABCB11 gene ABCB11 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCC2 gene ABCC2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000023839 ENSG00000023839 HGNC:53 ABCG5 gene ABCG5 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000143921 ENSG00000143921 HGNC:13887 ADK gene ADK Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000156110 ENSG00000156110 HGNC:257 AKR1D1 gene AKR1D1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000122787 ENSG00000122787 HGNC:388 ALDOB gene ALDOB Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000136872 ENSG00000136872 HGNC:417 AMACR gene AMACR Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000242110 ENSG00000242110 HGNC:451 ARG1 gene ARG1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000118520 ENSG00000118520 HGNC:663 ATP7B gene ATP7B Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000081923 ENSG00000081923 HGNC:3706 BAAT gene BAAT Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000136881 ENSG00000136881 HGNC:932 CC2D2A gene CC2D2A Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000048342 ENSG00000048342 HGNC:29253 CFTR gene CFTR Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000001626 ENSG00000001626 HGNC:1884 CLDN1 gene CLDN1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000163347 ENSG00000163347 HGNC:2032 COG7 gene COG7 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000168434 ENSG00000168434 HGNC:18622 CYP27A1 gene CYP27A1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000172817 ENSG00000172817 HGNC:2652 DCDC2 gene DCDC2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000146038 ENSG00000146038 HGNC:18141 DGUOK gene DGUOK Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR7 gene DHCR7 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000172893 ENSG00000172893 HGNC:2860 FAH gene FAH Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000103876 ENSG00000103876 HGNC:3579 GALT gene GALT Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000213930 ENSG00000213930 HGNC:4135 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000114480 ENSG00000114480 HGNC:4180 HADHA gene HADHA Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000084754 ENSG00000084754 HGNC:4801 HAMP gene HAMP Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000168509 ENSG00000168509 HGNC:4887 HNF1B gene HNF1B Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000108753 ENSG00000275410 HGNC:11630 HSD3B7 gene HSD3B7 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000099377 ENSG00000099377 HGNC:18324 IARS gene IARS Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000196305 ENSG00000196305 HGNC:5330 INVS gene INVS Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000119509 ENSG00000119509 HGNC:17870 JAG1 gene JAG1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000101384 ENSG00000101384 HGNC:6188 LIPA gene LIPA Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000107798 ENSG00000107798 HGNC:6617 MKS1 gene MKS1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000011143 ENSG00000011143 HGNC:7121 MPI gene MPI Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000115204 ENSG00000115204 HGNC:7224 MVK gene MVK Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000110921 ENSG00000110921 HGNC:7530 NOTCH2 gene NOTCH2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000134250 ENSG00000134250 HGNC:7882 NPC1 gene NPC1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000131697 ENSG00000131697 HGNC:19104 NR1H4 gene NR1H4 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000012504 ENSG00000012504 HGNC:7967 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000112357 ENSG00000112357 HGNC:8860 PKHD1 gene PKHD1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000170927 ENSG00000170927 HGNC:9016 POLG gene POLG Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000140521 ENSG00000140521 HGNC:9179 SERPINA1 gene SERPINA1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000197249 ENSG00000197249 HGNC:8941 SLC25A13 gene SLC25A13 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC27A5 gene SLC27A5 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC30A10 gene SLC30A10 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC40A1 gene SLC40A1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000138449 ENSG00000138449 HGNC:10909 SMPD1 gene SMPD1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000166311 ENSG00000166311 HGNC:11120 TALDO1 gene TALDO1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000177156 ENSG00000177156 HGNC:11559 TFR2 gene TFR2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000106327 ENSG00000106327 HGNC:11762 TJP2 gene TJP2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000119139 ENSG00000119139 HGNC:11828 TMEM216 gene TMEM216 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000187049 ENSG00000187049 HGNC:25018 TRMU gene TRMU Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000100416 ENSG00000100416 HGNC:25481 UGT1A1 gene UGT1A1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000241635 ENSG00000241635 HGNC:12530 VIPAS39 gene VIPAS39 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;Victorian Clinical Genetics Services Cholestasis Victorian Clinical Genetics Services Liver disease Gastroenterological disorders False 3 0;0;0 0.6 True ENSG00000184056 ENSG00000184056 HGNC:12712