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 Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR;Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR 16871584;23141890;9806540;15300568;11172067 False 3 100;0;0 1.0 True ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 3 MIM#602347;disorder of bile acid metabolism;Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972);Gallbladder disease 1 (MIM#600803) 8666348;17726488;18482588;28924228;32376413 False 3 100;0;0 1.0 True ENSG00000005471 ENSG00000005471 HGNC:45 ABCC2 gene ABCC2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Dubin-Johnson syndrome, MIM# 237500 False 3 100;0;0 1.0 True ENSG00000023839 ENSG00000023839 HGNC:53 ADK gene ADK Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 21963049;17120046;33309011 False 3 100;0;0 1.0 True ENSG00000156110 ENSG00000156110 HGNC:257 AKR1D1 gene AKR1D1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2, MIM# 235555 12970144;20522910 False 3 100;0;0 1.0 True ENSG00000122787 ENSG00000122787 HGNC:388 ALDOB gene ALDOB Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 False 3 100;0;0 1.0 True ENSG00000136872 ENSG00000136872 HGNC:417 AMACR gene AMACR Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 4, MIM# 214950 31951345;24735479;12512044;10655068;34267495;33047465 False 3 100;0;0 1.0 True ENSG00000242110 ENSG00000242110 HGNC:451 ATP7B gene ATP7B Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM# 277900 False 3 100;0;0 1.0 True ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic 1, MIM# 211600;Cholestasis, benign recurrent intrahepatic, MIM# 243300;Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480" 15239083 False 3 100;0;0 1.0 True ENSG00000081923 ENSG00000081923 HGNC:3706 BAAT gene BAAT Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid conjugation defect 1, MIM# 619232 12704386;23415802 False 3 100;0;0 1.0 True ENSG00000136881 ENSG00000136881 HGNC:932 BCS1L gene BCS1L Expert list;Expert Review Green Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal GRACILE syndrome, MIM# 603358;Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400 12215968 False 3 100;0;0 1.0 True ENSG00000074582 ENSG00000074582 HGNC:1020 CC2D2A gene CC2D2A Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome 2, MIM# 619111;Meckel syndrome 6, MIM#612284 False 3 100;0;0 1.0 True ENSG00000048342 ENSG00000048342 HGNC:29253 CLDN1 gene CLDN1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626 12164927;11889141;29146216 False 3 100;0;0 1.0 True ENSG00000163347 ENSG00000163347 HGNC:2032 COG7 gene COG7 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe , MIM#608779 19577670;17395513;15107842 False 3 100;0;0 1.0 True ENSG00000168434 ENSG00000168434 HGNC:18622 CYP27A1 gene CYP27A1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, MIM# 213700 False 3 100;0;0 1.0 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3, MIM# 613812 31337596;30366773;9802883 False 3 100;0;0 1.0 True ENSG00000172817 ENSG00000172817 HGNC:2652 DCDC2 gene DCDC2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sclerosing cholangitis, neonatal, MIM# 617394 27319779;27469900 False 3 100;0;0 1.0 True ENSG00000146038 ENSG00000146038 HGNC:18141 DGUOK gene DGUOK Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 False 3 100;0;0 1.0 True ENSG00000114956 ENSG00000114956 HGNC:2858 FAH gene FAH Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinaemia, type I, MIM# 276700 False 3 100;0;0 1.0 True ENSG00000103876 ENSG00000103876 HGNC:3579 FOCAD gene FOCAD Expert Review;Expert Review Green Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Liver disease, severe congenital, MIM# 619991 35864190 False 3 100;0;0 1.0 True ENSG00000188352 ENSG00000188352 HGNC:23377 GALM gene GALM Expert Review Green;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal type IV galactosaemia 30451973;30910422 False 3 100;0;0 1.0 True ENSG00000143891 ENSG00000143891 HGNC:24063 GALT gene GALT Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia, MIM# 230400 30693370 False 3 100;0;0 1.0 True ENSG00000213930 ENSG00000213930 HGNC:4135 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease 32324335 False 3 100;0;0 1.0 True ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM# 232500 False 3 100;0;0 1.0 True ENSG00000114480 ENSG00000114480 HGNC:4180 HNF1B gene HNF1B Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM# 137920 28324003;29727438;30791938;25741167 False 3 100;0;0 1.0 True ENSG00000108753 ENSG00000275410 HGNC:11630 HSD3B7 gene HSD3B7 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 1 MIM#607765 False 3 100;0;0 1.0 True ENSG00000099377 ENSG00000099377 HGNC:18324 JAG1 gene JAG1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome, MIM#118450 False 3 100;0;0 1.0 True ENSG00000101384 ENSG00000101384 HGNC:6188 KIF12 gene KIF12 Expert list;Expert Review Green Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 8, MIM# 619662 30250217;30976738 False 3 100;0;0 1.0 True ENSG00000136883 ENSG00000136883 HGNC:21495 MPV17 gene MPV17 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 False 3 100;0;0 1.0 True ENSG00000115204 ENSG00000115204 HGNC:7224 MYO5B gene MYO5B Expert list;Expert Review Green Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis;Microvillus inclusion disease, MIM#251850 28027573;27532546 False 3 100;0;0 1.0 True ENSG00000167306 ENSG00000167306 HGNC:7603 NOTCH2 gene NOTCH2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2 (MIM#610205) 16773578;21378985;21378989 False 3 100;0;0 1.0 True ENSG00000134250 ENSG00000134250 HGNC:7882 NPC1 gene NPC1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, MIM# 257220 False 3 100;0;0 1.0 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2 MIM#607625 False 3 100;0;0 1.0 True ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP3 gene NPHP3 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 18371931;20007846;32341812 False 3 100;0;0 1.0 True ENSG00000113971 ENSG00000113971 HGNC:7907 NR1H4 gene NR1H4 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 5, MIM# 617049 26888176;32443034 False 3 100;0;0 1.0 True ENSG00000012504 ENSG00000012504 HGNC:7967 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100 False 3 100;0;0 1.0 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX12 gene PEX12 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859) False 3 100;0;0 1.0 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX2 gene PEX2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 False 3 100;0;0 1.0 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 False 3 100;0;0 1.0 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX6 gene PEX6 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) False 3 100;0;0 1.0 True ENSG00000124587 ENSG00000124587 HGNC:8859 PKHD1 gene PKHD1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 30366773;25771912;8616994 False 3 100;0;0 1.0 True ENSG00000170927 ENSG00000170927 HGNC:9016 PSKH1 gene PSKH1 Expert Review Green;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 PMID: 39132680 False 3 100;0;0 1.0 True ENSG00000159792 ENSG00000159792 HGNC:9529 SERPINA1 gene SERPINA1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Emphysema due to AAT deficiency, MIM#613490;Emphysema-cirrhosis, due to AAT deficiency, MIM#613490;Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490;alpha 1-antitrypsin deficiency, MONDO#0013282 20301692;9041988;34408829 False 3 100;0;0 1.0 True ENSG00000197249 ENSG00000197249 HGNC:8941 SLC25A13 gene SLC25A13 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia, type II, neonatal-onset, MIM# 605814 False 3 100;0;0 1.0 True ENSG00000004864 ENSG00000004864 HGNC:10983 TALDO1 gene TALDO1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, MIM# 606003 False 3 100;0;0 1.0 True ENSG00000177156 ENSG00000177156 HGNC:11559 TJP2 gene TJP2 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 4, MIM# 615878 24614073;25921221;31696999 False 3 100;0;0 1.0 True ENSG00000119139 ENSG00000119139 HGNC:11828 TTC26 gene TTC26 Expert Review Green;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534;Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations 34177428;32617964;31595528;24596149;22718903 False 3 100;0;0 1.0 True ENSG00000105948 ENSG00000105948 HGNC:21882 UGT1A1 gene UGT1A1 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome, type I MIM#218800;Crigler-Najjar syndrome, type II MIM#606785 False 3 100;0;0 1.0 True ENSG00000241635 ENSG00000241635 HGNC:12530 UNC45A gene UNC45A Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome, MIM# 619377;Cholestasis;Diarrhoea;Bone fragility;Impaired hearing 29429573 False 3 100;0;0 1.0 True ENSG00000140553 ENSG00000140553 HGNC:30594 USP53 gene USP53 Expert Review Green;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 30250217;32124521;33075013 False 3 100;0;0 1.0 True ENSG00000145390 ENSG00000145390 HGNC:29255 VIPAS39 gene VIPAS39 Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 20190753 False 3 100;0;0 1.0 True ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) 31240160;31777725;24415890;15052268 False 3 100;0;0 1.0 True ENSG00000184056 ENSG00000184056 HGNC:12712 VPS50 gene VPS50 Expert Review Green;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685;Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum 34037727 False 3 50;50;0 1.0 True ENSG00000004766 ENSG00000004766 HGNC:25956 WDR83OS gene WDR83OS Expert Review Green;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016" 39471804;30250217 False 3 50;0;50 1.0 True ENSG00000105583 ENSG00000105583 HGNC:30203 ZFYVE19 gene ZFYVE19 Expert Review Green;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis 32737136 False 3 100;0;0 1.0 True ENSG00000166140 ENSG00000166140 HGNC:20758