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 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Cholestasis, benign recurrent intrahepatic, 2, 605479;Cholestasis, progressive familial intrahepatic 2, 601847;Cholestasis, Progressive Familial Intrahepatic 2;Familial Intrahepatic Cholestasis;PFIC2 False 3 100;0;0 1.29 False Other - please provide details in the comments ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Cholestasis, intrahepatic, of pregnancy, 3, 614972;Cholestasis, progressive familial intrahepatic 3, 602347;Cholestasis, Progressive Familial Intrahepatic 3;Familial Intrahepatic Cholestasis;Progressive Familial Intrahepatic Cholestasis;cholelithiasis;gallstones;modifier in other forms of genetic cholestasis;PFIC;PFIC3 False 3 100;0;0 1.29 False Other - please provide details in the comments ENSG00000005471 ENSG00000005471 HGNC:45 ABCC2 gene ABCC2 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Dubin-Johnson syndrome, 237500;Cholestasis;intrahepatic cholestasis of pregnancy;modifier in biliary atresia;Dubin Johnson syndrome 9425227;10053008;12942343;21044052;11477083;11477083;11477083;29707407;29499989 False 3 100;0;0 1.29 False ENSG00000023839 ENSG00000023839 HGNC:53 ADK gene ADK Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia due to adenosine kinase deficiency 614300 27500280;21963049;26642971 False 3 0;0;0 1.29 False ENSG00000156110 ENSG00000156110 HGNC:257 AKR1D1 gene AKR1D1 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Bile acid synthesis defect, congenital, 2;Bile acid synthesis defect, congenital, 2 235555;bile salt synthesis defect;cholestasis;fat soluble vitamin deficiency;liver failure False 3 100;0;0 1.29 False ENSG00000122787 ENSG00000122787 HGNC:388 ALDOB gene ALDOB Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Fructose intolerance, hereditary;acute liver failure False 3 100;0;0 1.29 False ENSG00000136872 ENSG00000136872 HGNC:417 ATP7B gene ATP7B Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900 23556051;30120852 False 3 0;0;0 1.29 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Cholestasis, benign recurrent intrahepatic, 243300;Cholestasis, intrahepatic, of pregnancy, 1, 147480;Cholestasis, progressive familial intrahepatic 1, 211600;Cholestasis, Progressive Familial Intrahepatic 1;Familial Intrahepatic Cholestasis False 3 100;0;0 1.29 False Other - please provide details in the comments ENSG00000081923 ENSG00000081923 HGNC:3706 BAAT gene BAAT Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Hypercholanemia, Familial;Hypercholanemia, familial, 607748;cholestasis;fat soluble vitamin deficiency 12704386;23415802 False 3 100;0;0 1.29 False ENSG00000136881 ENSG00000136881 HGNC:932 CC2D2A gene CC2D2A Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Meckel syndrome 6 612284;Joubert syndrome 9 612285 19574260;18950740;27959436 False 3 0;0;100 1.29 False ENSG00000048342 ENSG00000048342 HGNC:29253 CFTR gene CFTR Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Cholestasis;Cystic fibrosis, 219700;Pancreatitis, 167800 27806795;22798282;21194565;9934970 False 3 100;0;0 1.29 False ENSG00000001626 ENSG00000001626 HGNC:1884 CLDN1 gene CLDN1 Emory Genetics Laboratory;Expert Review Green;UKGTN Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626;ichthyosis-hypotrichosis-sclerosing cholangitis;NISCH syndrome;Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome 12164927;15521008;24641442;28154377;16619213;29146216 False 3 100;0;0 1.29 False ENSG00000163347 ENSG00000163347 HGNC:2032 COG7 gene COG7 Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe 608779 15107842;17356545;19577670 False 3 0;0;0 1.29 False ENSG00000168434 ENSG00000168434 HGNC:18622 CYP27A1 gene CYP27A1 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Severe neonatal cholestasis;Cerebrotendinous xanthomatosis, 213700 28937538;2019602;8514861;7915755;9186905;11903362;12000359;16278884 False 3 100;0;0 1.29 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3, 613812;Neonatal and Adult Cholestasis 9802883;31337596;30366773;18367963;21567895;24658845 False 3 0;100;0 1.29 False ENSG00000172817 ENSG00000172817 HGNC:2652 DCDC2 gene DCDC2 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Neonatal sclerosis cholangitis;PFIC type 5;Sclerosing cholangitis, neonatal, 617394 27469900;25557784;27469900;27319779;27319779;27469900 False 3 100;0;0 1.29 False ENSG00000146038 ENSG00000146038 HGNC:18141 DGUOK gene DGUOK Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Cholestasis 28493820;20301766;24321534;22602837;21680270;17682973;17538929 False 3 100;0;0 1.29 False ENSG00000114956 ENSG00000114956 HGNC:2858 FAH gene FAH Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Tyrosinaemia, Type 1, 276700;Cholestasis 28493866;23311542;28755194;26589959;11112833;15759101 False 3 100;0;0 1.29 False ENSG00000103876 ENSG00000103876 HGNC:3579 GALE gene GALE Expert Review;Expert Review Green;Literature Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Galactose epimerase deficiency, OMIM:230350;MONDO:0009257 27604308 False 3 100;0;0 1.29 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert Review;Expert Review Green Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, OMIM:230200;MONDO:0009255 False 3 100;0;0 1.29 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALM gene GALM Expert Review;Expert Review Green Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia IV, OMIM:618881;MONDO:0030105 30451973;30910422 False 3 100;0;0 1.29 False ENSG00000143891 ENSG00000143891 HGNC:24063 GALT gene GALT Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia 230400 False 3 0;0;0 1.29 False ENSG00000213930 ENSG00000213930 HGNC:4135 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders 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 False 3 0;0;0 1.29 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 8613547 False 3 0;0;0 1.29 False ENSG00000114480 ENSG00000114480 HGNC:4180 HADHA gene HADHA Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency 609016 9003853;10518281 False 3 0;0;0 1.29 False ENSG00000084754 ENSG00000084754 HGNC:4801 HNF1B gene HNF1B Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cholestasis;neonatal and adult onset jaundice and cholestasis 25741167;9398836;10484768;10720943; 12161522;11562418;11317673;11085914;15001636;17307554;22706971 False 3 67;0;33 1.29 False ENSG00000108753 ENSG00000275410 HGNC:11630 HSD3B7 gene HSD3B7 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Bile acid sythesis defect, congenital, 1 607765 11067870;12679481 False 3 100;0;0 1.29 False ENSG00000099377 ENSG00000099377 HGNC:18324 INVS gene INVS Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile 602088 2702088;19177160;12872123 False 3 0;0;100 1.29 False ENSG00000119509 ENSG00000119509 HGNC:17870 JAG1 gene JAG1 Emory Genetics Laboratory;Expert Review Green;Other;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, OMIM:118450;Neonatal and Adult Cholestasis 23881058 False 3 100;0;0 1.29 False ENSG00000101384 ENSG00000101384 HGNC:6188 LIPA gene LIPA Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;lysosomal acid lipase deficiency;cholestasis;Cholesteryl ester storage disease 278000;Wolman disease 278000 23485521;26137452;8617513;29702543;29731497;8598644;7759067;8254026 False 3 100;0;0 1.29 False ENSG00000107798 ENSG00000107798 HGNC:6617 MPI gene MPI Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257 28108845;10980531;9585601;12414827 False 3 0;0;0 1.29 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810;cholestasis;liver failure 16582910;16909392;18695062 False 3 100;0;0 1.29 False ENSG00000115204 ENSG00000115204 HGNC:7224 MVK gene MVK Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, OMIM:610377 False 3 0;0;0 1.29 False ENSG00000110921 ENSG00000110921 HGNC:7530 NOTCH2 gene NOTCH2 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neonatal and Adult Cholestasis;Alagille syndrome 2 16773578;22209762 False 3 100;0;0 1.29 False ENSG00000134250 ENSG00000134250 HGNC:7882 NPC1 gene NPC1 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Niemann-Pick disease type C1, 257220;Niemann-Pick disease, type D, 257220 9211849;10480349;10521290;9634529;9634529;11545687;11754101;11754101;12554680;24135395 False 3 100;0;0 1.29 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Niemann-Pick disease type C2, 607625 11125141;12955717;17470133;11567215 False 3 100;0;0 1.29 False ENSG00000119655 ENSG00000119655 HGNC:14537 NR1H4 gene NR1H4 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Cholestasis, progressive familial intrahepatic 5, 617049;Cholestasis, Progressive Familial Intrahepatic 5;modifier of other genetic cholestatic conditions;ciliopathy False 3 100;0;0 1.29 False ENSG00000012504 ENSG00000012504 HGNC:7967 PEX1 gene PEX1 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Peroxisome Biogenesis Disorder 1A (Zellweger), 214100;Zellweger syndrome 22871920;9398847;9398848 False 3 0;100;0 1.29 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) 614870;Peroxisome biogenesis disorder 6B 614871 False 3 0;0;100 1.29 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) 614859;Peroxisome biogenesis disorder 3B 266510 9090384;9354782 False 3 0;0;100 1.29 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) 614883;Peroxisome biogenesis disorder 11B 614885 10332040;19449432 False 3 0;0;100 1.29 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger) 614887 15146459;18285423;26627464 False 3 0;0;100 1.29 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) 614876 20681997;9837814;11890679 False 3 0;0;100 1.29 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) 614886 10051604;20683989 False 3 0;0;100 1.29 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Peroxisome Biogenesis Disorder 5A (Zellweger), 614866 1546315;14630978;2454948 False 3 0;100;0 1.29 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger)614872 12851857;15858711;17336976 False 3 0;0;0 1.29 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 10958759;28673549 False 3 0;0;0 1.29 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX6 gene PEX6 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) 614862 8670792;8940266;10408779 False 3 0;0;100 1.29 False ENSG00000124587 ENSG00000124587 HGNC:8859 PKHD1 gene PKHD1 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 30366773;25771912;8616994 False 3 100;0;0 1.29 False ENSG00000170927 ENSG00000170927 HGNC:9016 POLG gene POLG Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 20142534 False 3 100;0;0 1.29 False ENSG00000140521 ENSG00000140521 HGNC:9179 SLC25A13 gene SLC25A13 Emory Genetics Laboratory;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Citrullinemia type 2, neonatal onset;Citrullinemia type 2, adult onset;Citrullinemia, adult-onset type II 603471;Citrullinemia, type II, neonatal-onset 605814;CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY;NICCD 11281457;11343052;12424587 False 3 100;0;0 1.29 False ENSG00000004864 ENSG00000004864 HGNC:10983 SMPD1 gene SMPD1 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A 257200 26499107 False 3 0;0;100 1.29 False ENSG00000166311 ENSG00000166311 HGNC:11120 TALDO1 gene TALDO1 Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, 606003 11283793;23315216;29721915;24097415;25388407;19299175;21119539;18331807 False 3 0;100;0 1.29 False ENSG00000177156 ENSG00000177156 HGNC:11559 TJP2 gene TJP2 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Cholestasis, progressive familial intrahepatic 4, 615878;Cholestasis, Progressive Familial Intrahepatic 4 False 3 100;0;0 1.29 False ENSG00000119139 ENSG00000119139 HGNC:11828 TRMU gene TRMU Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile 613070 19732863;21931168;23625533;21153446 False 3 100;0;0 1.29 False ENSG00000100416 ENSG00000100416 HGNC:25481 UGT1A1 gene UGT1A1 Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Crigler-Najjar syndrome, type I 218800;Crigler-Najjar syndrome, type II 606785;[Gilbert syndrome] 143500;unconjugated jaundice 11013440 False 3 100;0;0 1.29 False ENSG00000241635 ENSG00000241635 HGNC:12530 VIPAS39 gene VIPAS39 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404;ARC syndrome False 3 100;0;0 1.29 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Arthrogryposis, renal dysfunction, and cholestasis 1, 208085;Arthrogryposis, Renal Dysfunction, and Cholestasis 1;Arthrogryposis, Renal Dysfunction, And Cholestasis 1;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome;ARC syndrome;arthrogryposis-renal-cholestasis syndrome False 3 100;0;0 1.29 False ENSG00000184056 ENSG00000184056 HGNC:12712 AMACR gene AMACR Emory Genetics Laboratory;Expert Review Amber;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Bile acid synthesis defect, congenital, 4 214950 10655068;12512044 False 2 0;100;0 1.29 False ENSG00000242110 ENSG00000242110 HGNC:451 BCS1L gene BCS1L Expert list;Expert Review Amber Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal GRACILE syndrome;Cholestasis 11528392;9792866;12215968 False 2 0;0;0 1.29 False ENSG00000074582 ENSG00000074582 HGNC:1020 GNAS gene GNAS Expert list;Expert Review Amber Neonatal cholestasis Liver disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted McCune-Albright syndrome;Cholestasis 10673080 False 2 0;0;0 1.29 False Other - please provide details in the comments ENSG00000087460 ENSG00000087460 HGNC:4392 HAMP gene HAMP Expert Review Amber;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313 12469120;12915468 False 2 0;0;0 1.29 False ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Amber;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis 235200 12060140 False 2 0;0;0 1.29 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Amber;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A 602390 False 2 0;0;0 1.29 False ENSG00000168509 ENSG00000168509 HGNC:4887 IARS gene IARS Expert Review Amber;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 617093 27891590;27426735 False 2 0;0;0 1.29 False ENSG00000196305 ENSG00000196305 HGNC:5330 MKS1 gene MKS1 Emory Genetics Laboratory;Expert Review Amber;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 1 249000 False 2 100;0;0 1.29 False ENSG00000011143 ENSG00000011143 HGNC:7121 NPHP3 gene NPHP3 Emory Genetics Laboratory;Expert Review Amber;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 208540 21845392;18371931;20007846;23686967 False 2 0;0;100 1.29 False ENSG00000113971 ENSG00000113971 HGNC:7907 TFR2 gene TFR2 Expert Review Amber;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250 10802645;11313241;12130528;29985876 False 2 0;0;0 1.29 False ENSG00000106327 ENSG00000106327 HGNC:11762 TMEM216 gene TMEM216 Emory Genetics Laboratory;Expert Review Amber;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Meckel syndrome 2 603194 False 2 0;0;100 1.29 False ENSG00000187049 ENSG00000187049 HGNC:25018 ABCD3 gene ABCD3 Expert Review Red;Literature Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 5 616278" 25168382 False 1 0;0;100 1.29 False ENSG00000117528 ENSG00000117528 HGNC:67 ABCG5 gene ABCG5 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 210250 16614371;29304564;16741293 False 1 0;100;0 1.29 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 210250;intrahepatic cholestasis of pregnancy 16614371;25798860 False 1 0;100;0 1.29 False ENSG00000143921 ENSG00000143921 HGNC:13887 ARG1 gene ARG1 Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Argininemia, OMIM:207800 False 1 0;0;0 1.29 False ENSG00000118520 ENSG00000118520 HGNC:663 CYP7A1 gene CYP7A1 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders Neonatal and Adult Cholestasis 29529257;29498526 False 1 0;50;50 1.29 False ENSG00000167910 ENSG00000167910 HGNC:2651 DHCR7 gene DHCR7 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 False 1 0;0;100 1.29 False ENSG00000172893 ENSG00000172893 HGNC:2860 EHHADH gene EHHADH Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Fanconi renotubular syndrome 3 615605 False 1 0;0;0 1.29 False ENSG00000113790 ENSG00000113790 HGNC:3247 EPHX1 gene EPHX1 Expert Review Red;UKGTN Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal ?Hypercholanemia, Familial 607748 12704386 False 1 0;0;0 1.29 False ENSG00000143819 ENSG00000143819 HGNC:3401 GPBAR1 gene GPBAR1 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders Neonatal and Adult Cholestasis 26177448;16724960 False 1 0;0;0 1.29 False ENSG00000179921 ENSG00000179921 HGNC:19680 HSD17B4 gene HSD17B4 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;D-bifunctional protein deficiency, 261515;peroxisomal bifunctional protein deficiency 22416181 False 1 0;0;100 1.29 False ENSG00000133835 ENSG00000133835 HGNC:5213 MYO5B gene MYO5B Expert list;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 2, with microvillus atrophy, OMIM:251850 18724368 False 1 0;0;100 1.29 False ENSG00000167306 ENSG00000167306 HGNC:7603 NPHP1 gene NPHP1 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders N/A False 1 0;0;100 1.29 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP4 gene NPHP4 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4 606966;Senior-Loken syndrome 4 606996 False 1 0;0;100 1.29 False ENSG00000131697 ENSG00000131697 HGNC:19104 PEX11B gene PEX11B Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal ?Peroxisome biogenesis disorder 14B 614920 28129423;22581968 False 1 0;0;0 1.29 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX5 gene PEX5 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) 214110 False 1 0;0;0 1.29 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX7 gene PEX7 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders Peroxisome biogenesis disorder 9B 614879;Rhizomelic chondrodysplasia punctata, type 1 215100 False 1 0;0;0 1.29 False ENSG00000112357 ENSG00000112357 HGNC:8860 SCP2 gene SCP2 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal ?Leukoencephalopathy with dystonia and motor neuropathy 613724 False 1 0;0;100 1.29 False ENSG00000116171 ENSG00000116171 HGNC:10606 SERPINA1 gene SERPINA1 Emory Genetics Laboratory;Expert Review Red;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Alpha-1 Antitrypsin Deficiency 26126923;26003074;24750955 False 1 50;50;0 1.29 False ENSG00000197249 ENSG00000197249 HGNC:8941 SLC10A1 gene SLC10A1 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sodium taurocholate cotransporting polypeptide deficiency 29658451;24867799;28835676;27882152;29290974 False 1 0;0;100 1.29 False ENSG00000100652 ENSG00000100652 HGNC:10905 SLC10A2 gene SLC10A2 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid malabsorption, primary 613291 9109432 False 1 0;0;100 1.29 False ENSG00000125255 ENSG00000125255 HGNC:10906 SLC27A5 gene SLC27A5 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis 23415802;22089923 False 1 0;100;0 1.29 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC30A10 gene SLC30A10 Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 25778823;29193034;27117033;29179235 False 1 0;0;0 1.29 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC40A1 gene SLC40A1 Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemochromatosis, type 4 606069 False 1 0;0;0 1.29 False ENSG00000138449 ENSG00000138449 HGNC:10909 UTP4 gene UTP4 Expert Review Red;UKGTN Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal North American Indian Childhood Cirrhosis False 1 0;0;0 1.29 False ENSG00000141076 ENSG00000141076 HGNC:1983 WDR83OS gene WDR83OS Expert Review Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis 30250217 False 1 0;0;100 1.29 False ENSG00000105583 ENSG00000105583 HGNC:30203 ISCA-37432-Loss region Expert Review Green;ClinGen Neonatal cholestasis Liver disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RCAD syndrome;utero-vaginal atresia;Schizophrenia;614527;delayed development, intellectual disability;Renal cysts and diabetes syndrome;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Chromosome 17q12 deletion syndrome;global developmental delay False 3 0;0;0 1.29 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss