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;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Familial Intrahepatic Cholestasis;Cholestasis, progressive familial intrahepatic 2, 601847;Cholestasis, Progressive Familial Intrahepatic 2;PFIC2;Cholestasis, benign recurrent intrahepatic, 2, 605479;Neonatal and Adult Cholestasis False 3 100;0;0 3.19 True Other - please provide details in the comments ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive Familial Intrahepatic Cholestasis;modifier in other forms of genetic cholestasis;Familial Intrahepatic Cholestasis;gallstones;cholelithiasis;PFIC;PFIC3;Cholestasis, progressive familial intrahepatic 3, 602347;Cholestasis, intrahepatic, of pregnancy, 3, 614972;Neonatal and Adult Cholestasis;Cholestasis, Progressive Familial Intrahepatic 3 False 3 100;0;0 3.19 True Other - please provide details in the comments ENSG00000005471 ENSG00000005471 HGNC:45 ABCC2 gene ABCC2 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal modifier in biliary atresia;Dubin Johnson syndrome;Cholestasis;intrahepatic cholestasis of pregnancy;Dubin-Johnson syndrome, 237500 11477083;21044052;9425227;29499989;12942343;10053008;29707407 False 3 100;0;0 3.19 True ENSG00000023839 ENSG00000023839 HGNC:53 ADK gene ADK Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia due to adenosine kinase deficiency, OMIM:614300, MONDO:0013676 21963049;27500280;26642971;33309011 False 3 50;50;0 3.19 False ENSG00000156110 ENSG00000156110 HGNC:257 AKR1D1 gene AKR1D1 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Other;UKGTN;Victorian Clinical Genetics Services Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2 235555;fat soluble vitamin deficiency;liver failure;bile salt synthesis defect;Bile acid synthesis defect, congenital, 2;Neonatal and Adult Cholestasis;cholestasis False 3 100;0;0 3.19 True ENSG00000122787 ENSG00000122787 HGNC:388 ALDOB gene ALDOB Emory Genetics Laboratory;Expert Review Green;NHS GMS;Other;UKGTN;Victorian Clinical Genetics Services Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal acute liver failure;Neonatal and Adult Cholestasis;Fructose intolerance, hereditary False 3 50;50;0 3.19 True ENSG00000136872 ENSG00000136872 HGNC:417 AMACR gene AMACR Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Bile acid synthesis defect, congenital, 4 214950 12512044;10655068 False 3 50;50;0 3.19 True ENSG00000242110 ENSG00000242110 HGNC:451 ATP7B gene ATP7B Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Wilson disease, 277900 23556051;30120852 False 3 100;0;0 3.19 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Intrahepatic Cholestasis;Cholestasis, intrahepatic, of pregnancy, 1, 147480;Cholestasis, Progressive Familial Intrahepatic 1;Cholestasis, benign recurrent intrahepatic, 243300;Cholestasis, progressive familial intrahepatic 1, 211600;Neonatal and Adult Cholestasis False 3 100;0;0 3.19 True Other - please provide details in the comments ENSG00000081923 ENSG00000081923 HGNC:3706 BAAT gene BAAT Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, Familial;fat soluble vitamin deficiency;Hypercholanemia, familial, 607748;cholestasis;Neonatal and Adult Cholestasis 23415802;12704386 False 3 100;0;0 3.19 True ENSG00000136881 ENSG00000136881 HGNC:932 BCS1L gene BCS1L Expert list;Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cholestasis;GRACILE syndrome 11528392;12215968;9792866 False 3 100;0;0 3.19 False ENSG00000074582 ENSG00000074582 HGNC:1020 CFTR gene CFTR Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cholestasis;Neonatal and Adult Cholestasis;Cystic fibrosis, OMIM:219700, MONDO:0009061;{Pancreatitis, hereditary}, OMIM:167800 21194565;27806795;22798282;9934970;26436368;31041076 False 3 50;50;0 3.19 False ENSG00000001626 ENSG00000001626 HGNC:1884 CLDN1 gene CLDN1 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal ichthyosis-hypotrichosis-sclerosing cholangitis;Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626;Neonatal and Adult Cholestasis;NISCH syndrome;Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome 24641442;16619213;15521008;12164927;28154377;29146216 False 3 100;0;0 3.19 True ENSG00000163347 ENSG00000163347 HGNC:2032 COG7 gene COG7 Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe , 608779 19577670;17395513;15107842 False 3 100;0;0 3.19 False ENSG00000168434 ENSG00000168434 HGNC:18622 CYP27A1 gene CYP27A1 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Other;UKGTN;Victorian Clinical Genetics Services Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Severe neonatal cholestasis;Cerebrotendinous xanthomatosis, 213700 9186905;28937538;16278884;11903362;8514861;2019602;12000359;7915755 False 3 100;0;0 3.19 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Other;UKGTN;Victorian Clinical Genetics Services Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3, 613812;Neonatal and Adult Cholestasis 9802883;31337596;30366773;18367963;21567895;24658845 False 3 33;67;0 3.19 False ENSG00000172817 ENSG00000172817 HGNC:2652 DCDC2 gene DCDC2 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Sclerosing cholangitis, neonatal, 617394;PFIC type 5;Neonatal sclerosis cholangitis;Neonatal and Adult Cholestasis 25557784;27319779;27469900 False 3 100;0;0 3.19 True ENSG00000146038 ENSG00000146038 HGNC:18141 DGUOK gene DGUOK Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 False 3 100;0;0 3.19 False ENSG00000114956 ENSG00000114956 HGNC:2858 FAH gene FAH Expert Review Green;NHS GMS Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Tyrosinaemia, Type 1, 276700;Cholestasis 26589959;23311542;11112833;28755194;28493866;15759101 False 3 100;0;0 3.19 False ENSG00000103876 ENSG00000103876 HGNC:3579 GALE gene GALE Expert Review;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Galactose epimerase deficiency, OMIM:230350;MONDO:0009257 27604308 False 3 50;50;0 3.19 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALM gene GALM Expert Review Green;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Galactosemia IV, OMIM:618881;MONDO:0030105 30451973;30910422 False 3 100;0;0 3.19 False ENSG00000143891 ENSG00000143891 HGNC:24063 GALT gene GALT Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Galactosemia, OMIM:230400;MONDO:0018116 30693370 False 3 100;0;0 3.19 False ENSG00000213930 ENSG00000213930 HGNC:4135 GBA gene GBA Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal 608013;Gaucher disease, type I 230800;Gaucher disease, type II 230900;Gaucher disease, type III 231000;Gaucher disease, type IIIC 231005 32324335 False 3 100;0;0 3.19 False ENSG00000177628 ENSG00000177628 HGNC:4177 HADHA gene HADHA Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency, OMIM:609016, MONDO:0012173 10518281;9003853 False 3 50;50;0 3.19 False ENSG00000084754 ENSG00000084754 HGNC:4801 HNF1B gene HNF1B Expert list;Expert Review Green Cholestasis Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, 137920 28324003;29727438;30791938;25741167 False 3 100;0;0 3.19 False ENSG00000108753 ENSG00000275410 HGNC:11630 HSD3B7 gene HSD3B7 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Bile acid sythesis defect, congenital, 1 607765;Neonatal and Adult Cholestasis 12679481;11067870 False 3 100;0;0 3.19 True ENSG00000099377 ENSG00000099377 HGNC:18324 JAG1 gene JAG1 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, OMIM:118450;Neonatal and Adult Cholestasis 23881058 False 3 100;0;0 3.19 True ENSG00000101384 ENSG00000101384 HGNC:6188 KIF12 gene KIF12 Expert Review Green;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cholestasis;High Gamma-Glutamyltransferase (GGT) 30250217;30976738 False 3 100;0;0 3.19 False ENSG00000136883 ENSG00000136883 HGNC:21495 LIPA gene LIPA Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal lysosomal acid lipase deficiency;Wolman disease, OMIM:278000, MONDO:0019148;Cholesteryl ester storage disease, OMIM:278000, MONDO:0019149;Neonatal and Adult Cholestasis;cholestasis 8254026;29702543;8617513;7759067;8598644;26137452;29731497;23485521;33964214 False 3 50;50;0 3.19 False ENSG00000107798 ENSG00000107798 HGNC:6617 MPI gene MPI Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110;33413482;28108845 False 3 50;50;0 3.19 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 False 3 100;0;0 3.19 False ENSG00000115204 ENSG00000115204 HGNC:7224 MVK gene MVK Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, OMIM:610377 False 3 50;50;0 3.19 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYO5B gene MYO5B Expert list;Expert Review Green;NHS GMS Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhea 2, with microvillus atrophy, OMIM:251850 28027573;18724368 False 3 67;0;33 3.19 True ENSG00000167306 ENSG00000167306 HGNC:7603 NBAS gene NBAS Expert Review Green;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 2, OMIM:616483 26541327;28629372;30622725;26073778;32146038;31761904 False 3 33;33;33 3.19 False ENSG00000151779 ENSG00000151779 HGNC:15625 NOTCH2 gene NOTCH2 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2;Neonatal and Adult Cholestasis 22209762;16773578 False 3 100;0;0 3.19 True ENSG00000134250 ENSG00000134250 HGNC:7882 NPC1 gene NPC1 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type D, 257220;Niemann-Pick disease type C1, 257220;Neonatal and Adult Cholestasis 9634529;10480349;11545687;10521290;9211849;24135395;12554680;11754101 False 3 100;0;0 3.19 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Niemann-Pick disease type C2, 607625 17470133;11567215;11125141;12955717 False 3 100;0;0 3.19 True ENSG00000119655 ENSG00000119655 HGNC:14537 NR1H4 gene NR1H4 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal ciliopathy;Cholestasis, Progressive Familial Intrahepatic 5;modifier of other genetic cholestatic conditions;Neonatal and Adult Cholestasis;Cholestasis, progressive familial intrahepatic 5, 617049 False 3 100;0;0 3.19 True ENSG00000012504 ENSG00000012504 HGNC:7967 PEX1 gene PEX1 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Peroxisome Biogenesis Disorder 1A (Zellweger), 214100;Zellweger syndrome;Neonatal and Adult Cholestasis 9398848;22871920;9398847 False 3 33;33;33 3.19 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX12 gene PEX12 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3B 266510;Peroxisome biogenesis disorder 3A (Zellweger) 614859 9090384;9354782 False 3 50;0;50 3.19 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX26 gene PEX26 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger)614872 12851857;17336976;15858711 False 3 100;0;0 3.19 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX6 gene PEX6 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) 614862 10408779;8670792;8940266 False 3 50;0;50 3.19 True ENSG00000124587 ENSG00000124587 HGNC:8859 PKHD1 gene PKHD1 Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200 30366773;25771912;8616994 False 3 100;0;0 3.19 False ENSG00000170927 ENSG00000170927 HGNC:9016 POLG gene POLG Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, MONDO:0008758 False 3 50;50;0 3.19 False ENSG00000140521 ENSG00000140521 HGNC:9179 PSKH1 gene PSKH1 Expert Review Green;Literature;NHS GMS Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 13, OMIM:620962 39132680 False 3 100;0;0 3.19 False ENSG00000159792 ENSG00000159792 HGNC:9529 SERPINA1 gene SERPINA1 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Alpha-1 Antitrypsin Deficiency;Neonatal and Adult Cholestasis 26126923;26003074;24750955;30589493 False 3 75;25;0 3.19 True ENSG00000197249 ENSG00000197249 HGNC:8941 SLC25A13 gene SLC25A13 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY;NICCD;Citrullinemia type 2, neonatal onset;Citrullinemia type 2, adult onset;Citrullinemia, adult-onset type II 603471;Citrullinemia, type II, neonatal-onset 605814;Neonatal and Adult Cholestasis 11343052;11281457;12424587 False 3 100;0;0 3.19 True ENSG00000004864 ENSG00000004864 HGNC:10983 SMPD1 gene SMPD1 Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, OMIM:257200, MONDO:0009756 False 3 50;50;0 3.19 False ENSG00000166311 ENSG00000166311 HGNC:11120 TALDO1 gene TALDO1 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, 606003 18331807;11283793;21119539;19299175;23315216;25388407;29721915;24097415 False 3 50;50;0 3.19 True ENSG00000177156 ENSG00000177156 HGNC:11559 TJP2 gene TJP2 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cholestasis, Progressive Familial Intrahepatic 4;Neonatal and Adult Cholestasis;Cholestasis, progressive familial intrahepatic 4, 615878 False 3 100;0;0 3.19 True ENSG00000119139 ENSG00000119139 HGNC:11828 TRMU gene TRMU Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile, OMIM:613070 21153446;21931168;19732863;23625533 False 3 50;50;0 3.19 False ENSG00000100416 ENSG00000100416 HGNC:25481 UGT1A1 gene UGT1A1 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal [Gilbert syndrome] 143500;Crigler-Najjar syndrome, type I 218800;Neonatal and Adult Cholestasis;Crigler-Najjar syndrome, type II 606785;unconjugated jaundice 11013440 False 3 100;0;0 3.19 True ENSG00000241635 ENSG00000241635 HGNC:12530 UNC45A gene UNC45A Expert list;Expert Review Green Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome, OMIM:619377;Aagenaes syndrome, MONDO:0008966 29429573;37328071;39887522 False 3 100;0;0 3.19 False ENSG00000140553 ENSG00000140553 HGNC:30594 USP53 gene USP53 Expert Review Green;NHS GMS Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Paediatric cholestatic liver disease;Cholestasis;deafness 30250217;32124521;32759993 False 3 67;0;33 3.19 False ENSG00000145390 ENSG00000145390 HGNC:29255 VIPAS39 gene VIPAS39 Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404;ARC syndrome False 3 100;0;0 3.19 True ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal arthrogryposis-renal-cholestasis syndrome;Arthrogryposis, renal dysfunction, and cholestasis 1, 208085;Arthrogryposis, Renal Dysfunction, and Cholestasis 1;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome;ARC syndrome;Neonatal and Adult Cholestasis;Arthrogryposis, Renal Dysfunction, And Cholestasis 1 False 3 100;0;0 3.19 True ENSG00000184056 ENSG00000184056 HGNC:12712 YARS gene YARS Expert Review Green;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal "Charcot-Marie-Tooth disease, dominant intermediate C 608323;Intellectual disability;deafness;nystagmus;liver dysfunction" 30304524;29232904;27633801;33490854 False 3 50;50;0 3.19 False ENSG00000134684 ENSG00000134684 HGNC:12840 ZFYVE19 gene ZFYVE19 Expert Review Green;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 9, OMIM:619849 32737136;33853651 False 3 100;0;0 3.19 False ENSG00000166140 ENSG00000166140 HGNC:20758 ERCC1 gene ERCC1 Expert Review Amber;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal hepatorenal syndrome, MONDO:0001382 40684071 False 2 100;0;0 3.19 False ENSG00000012061 ENSG00000012061 HGNC:3433 FARSA gene FARSA Expert Review Amber;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 31355908;33598926 False 2 0;0;100 3.19 False ENSG00000179115 ENSG00000179115 HGNC:3592 FARSB gene FARSB Expert Review Amber;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Rajab interstitial lung disease with brain calcifications, 613658 29573043;29979980;30014610 False 2 0;0;0 3.19 False ENSG00000116120 ENSG00000116120 HGNC:17800 GBE1 gene GBE1 Expert list;Expert Review Amber;NHS GMS Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 8613547;20301758 False 2 0;100;0 3.19 False ENSG00000114480 ENSG00000114480 HGNC:4180 GNAS gene GNAS Expert list;Expert Review Amber;NHS GMS;Other Cholestasis Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted McCune-Albright syndrome;Cholestasis 10673080 False 2 100;0;0 3.19 True Other - please provide details in the comments ENSG00000087460 ENSG00000087460 HGNC:4392 IARS gene IARS Expert list;Expert Review Amber Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 27426735;27891590 False 2 0;100;0 3.19 False ENSG00000196305 ENSG00000196305 HGNC:5330 LSR gene LSR Expert Review Amber;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal transient neonatal cholestasis;intellectual disability;short stature 32303357;30250217 False 2 0;100;0 3.19 False ENSG00000105699 ENSG00000105699 HGNC:29572 MMP15 gene MMP15 Expert Review Amber;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cholestasis, MONDO:0001751;congenital heart disease, MONDO:0005453 33875846 False 2 100;0;0 3.19 False ENSG00000102996 ENSG00000102996 HGNC:7161 NPHP3 gene NPHP3 Expert list;Expert Review Amber Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, 208540 18371931;20007846;32341812;23686967 False 2 100;0;0 3.19 False ENSG00000113971 ENSG00000113971 HGNC:7907 PEX14 gene PEX14 Expert list;Expert Review Amber Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), 614887 21686775;18285423;15146459 False 2 0;100;0 3.19 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX2 gene PEX2 Expert Review Amber;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Peroxisome Biogenesis Disorder 5A (Zellweger), 614866 14630978;1546315;2454948 False 2 0;100;0 3.19 False ENSG00000164751 ENSG00000164751 HGNC:9717 SCYL1 gene SCYL1 Expert Review Amber;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal cholestasis, MONDO:0001751;acute liver failure, MONDO:0019542;Spinocerebellar ataxia, autosomal recessive 21, OMIM:616719 29419818;30842961;33442927 False 2 100;0;0 3.19 False ENSG00000142186 ENSG00000142186 HGNC:14372 VPS50 gene VPS50 Expert Review Amber;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum 34037727 False 2 0;100;0 3.19 False ENSG00000004766 ENSG00000004766 HGNC:25956 AP1S1 gene AP1S1 Expert Review Red;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Non-syndromic congenital intestinal failure;MEDNIK syndrome, OMIM:609313 32306098;15668823;19057675;23423674;30244301 False 1 50;0;50 3.19 False ENSG00000106367 ENSG00000106367 HGNC:559 CYP7A1 gene CYP7A1 Expert Review Red;NHS GMS;Other Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3;Neonatal and Adult Cholestasis 9802883;26333513;35390434 False 1 20;20;60 3.19 False ENSG00000167910 ENSG00000167910 HGNC:2651 GALK1 gene GALK1 Expert Review;Expert Review Red;NHS GMS Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, OMIM:230200;MONDO:0009255 Edit 33413482;28108845 False 1 0;67;33 3.19 False ENSG00000108479 ENSG00000108479 HGNC:4118 PPM1F gene PPM1F Expert Review Red;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal sclerosing cholangitis;short stature;hypothyroidism;abnormal tongue pigmentation 30250217;30976738 False 1 0;0;100 3.19 False ENSG00000100034 ENSG00000100034 HGNC:19388 RINT1 gene RINT1 Expert Review Red;Literature;NHS GMS Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 3 OMIM:618641;infantile liver failure syndrome 3 MONDO:0032844 31204009 False 1 50;0;50 3.19 False ENSG00000135249 ENSG00000135249 HGNC:21876 SLC51A gene SLC51A Expert Review Red;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal ?Cholestasis, progressive familial intrahepatic, 6, OMIM:619484 31863603 False 1 0;0;100 3.19 False ENSG00000163959 ENSG00000163959 HGNC:29955 WDR83OS gene WDR83OS Expert Review Red;Literature Cholestasis Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cholestasis 30250217 False 1 0;0;100 3.19 False ENSG00000105583 ENSG00000105583 HGNC:30203