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 Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR;Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR Abnormality of the liver;HP:0001392 16871584;23141890;9806540;15300568;11172067 False 3 100;0;0 2.1 True ENSG00000073734 ENSG00000073734 HGNC:42 ABCB11 gene ABCB11 Expert Review Green Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal progressive familial intrahepatic cholestasis type 2 MONDO:0011156;Disorders of bile acid metabolism Abnormality of the liver;HP:0001392 9806540 False 3 0;0;0 2.1 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB11 gene ABCB11 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic 2, MIM# 601847" Abnormality of the liver;HP:0001392 9806540 False 3 100;0;0 2.1 True ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic 3, MIM# 602347" Abnormality of the liver;HP:0001392 17726488 False 3 100;0;0 2.1 True ENSG00000005471 ENSG00000005471 HGNC:45 ABCB4 gene ABCB4 Expert Review Green Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Disorders of bile acid metabolism;progressive familial intrahepatic cholestasis type 3 MONDO:0011214 Abnormality of the liver;HP:0001392 8666348 False 3 0;0;0 2.1 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCB4 gene ABCB4 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel 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) Abnormality of the liver;HP:0001392 8666348;17726488;18482588;28924228;32376413 False 3 100;0;0 2.1 True ENSG00000005471 ENSG00000005471 HGNC:45 ABCC2 gene ABCC2 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Dubin-Johnson syndrome, MIM# 237500 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000023839 ENSG00000023839 HGNC:53 ABCC2 gene ABCC2 Expert Review Green Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;Dubin-Johnson syndrome MONDO:0009380 Abnormality of the liver;HP:0001392 21044052, 11477083 False 3 0;0;0 2.1 False ENSG00000023839 ENSG00000023839 HGNC:53 ACADM gene ACADM Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450" Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000117054 ENSG00000117054 HGNC:89 ADK gene ADK Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 Abnormality of the liver;HP:0001392 21963049;17120046;33309011 False 3 100;0;0 2.1 True ENSG00000156110 ENSG00000156110 HGNC:257 AKR1D1 gene AKR1D1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 2, MIM# 235555" Abnormality of the liver;HP:0001392 12970144;20522910 False 3 100;0;0 2.1 True ENSG00000122787 ENSG00000122787 HGNC:388 AKR1D1 gene AKR1D1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2, MIM# 235555 Abnormality of the liver;HP:0001392 12970144;20522910 False 3 100;0;0 2.1 True ENSG00000122787 ENSG00000122787 HGNC:388 ALAD gene ALAD Expert Review Green;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic 612740;{Lead poisoning, susceptibility to} 612740;Acute hepatic porphyria (Acute neuropathic porphyrias) Abnormality of the liver;HP:0001392 16343966;30724374;31311713 False 3 100;0;0 2.1 True ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert Review Green;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Protoporphyria, erythropoietic, X-linked, 300752;Anemia, sideroblastic, X-linked, 300751 Abnormality of the liver;HP:0001392 False 3 0;0;0 2.1 True ENSG00000158578 ENSG00000158578 HGNC:397 ALDOB gene ALDOB Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Fructose intolerance, hereditary, MIM# 229600" Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000136872 ENSG00000136872 HGNC:417 ALDOB gene ALDOB Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG5 gene ALG5 Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 7, MIM# 620056;Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline Abnormality of the liver;HP:0001392 35896117 False 3 100;0;0 2.1 True ENSG00000120697 ENSG00000120697 HGNC:20266 ALG8 gene ALG8 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Polycystic liver disease 3 with or without kidney cysts, MIM# 617874" Abnormality of the liver;HP:0001392 28375157;15235028 False 3 100;0;0 2.1 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALMS1 gene ALMS1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Alstrom syndrome, MIM# 203800" Abnormality of the liver;HP:0001392 25296579 False 3 100;0;0 2.1 True ENSG00000116127 ENSG00000116127 HGNC:428 AMACR gene AMACR Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 4, MIM# 214950" Abnormality of the liver;HP:0001392 31951345;24735479;12512044;10655068 False 3 100;0;0 2.1 True ENSG00000242110 ENSG00000242110 HGNC:451 AMACR gene AMACR Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 4, MIM# 214950 Abnormality of the liver;HP:0001392 31951345;24735479;12512044;10655068;34267495;33047465 False 3 100;0;0 2.1 True ENSG00000242110 ENSG00000242110 HGNC:451 ATP6AP1 gene ATP6AP1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 47, MIM# 300972" Abnormality of the liver;HP:0001392 27231034;32216104;32058063;29192153 False 3 100;0;0 2.1 True ENSG00000071553 ENSG00000071553 HGNC:868 ATP6AP2 gene ATP6AP2 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Congenital disorder of glycosylation, type IIr, MIM# 301045" Abnormality of the liver;HP:0001392 29127204;29388887 False 3 100;0;0 2.1 True ENSG00000182220 ENSG00000182220 HGNC:18305 ATP7B gene ATP7B Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM# 277900 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000123191 ENSG00000123191 HGNC:870 ATP7B gene ATP7B Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM#277900 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel 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" Abnormality of the liver;HP:0001392 15239083 False 3 100;0;0 2.1 True ENSG00000081923 ENSG00000081923 HGNC:3706 ATP8B1 gene ATP8B1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic 1, MIM# 211600" Abnormality of the liver;HP:0001392 15239083 False 3 100;0;0 2.1 True ENSG00000081923 ENSG00000081923 HGNC:3706 ATP8B1 gene ATP8B1 Expert Review Green Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal progressive familial intrahepatic cholestasis type 1 MONDO:0008892;Disorders of bile acid metabolism Abnormality of the liver;HP:0001392 9500542 False 3 0;0;0 2.1 False ENSG00000081923 ENSG00000081923 HGNC:3706 BAAT gene BAAT Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid conjugation defect 1, MIM# 619232 Abnormality of the liver;HP:0001392 12704386;23415802 False 3 100;0;0 2.1 True ENSG00000136881 ENSG00000136881 HGNC:932 BCS1L gene BCS1L Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal GRACILE syndrome, MIM# 603358;Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400 Abnormality of the liver;HP:0001392 12910490;12215968;21274865 False 3 100;0;0 2.1 True ENSG00000074582 ENSG00000074582 HGNC:1020 BCS1L gene BCS1L Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal GRACILE syndrome, MIM# 603358;Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400 Abnormality of the liver;HP:0001392 12215968 False 3 100;0;0 2.1 True ENSG00000074582 ENSG00000074582 HGNC:1020 CC2D2A gene CC2D2A Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome 2, MIM# 619111;Meckel syndrome 6, MIM#612284 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC115 gene CCDC115 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIo, MIM# 616828" Abnormality of the liver;HP:0001392 26833332;29759592 False 3 100;0;0 2.1 True ENSG00000136710 ENSG00000136710 HGNC:28178 CLDN1 gene CLDN1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626 Abnormality of the liver;HP:0001392 12164927;11889141;29146216 False 3 100;0;0 2.1 True ENSG00000163347 ENSG00000163347 HGNC:2032 COG7 gene COG7 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe , MIM#608779 Abnormality of the liver;HP:0001392 19577670;17395513;15107842 False 3 100;0;0 2.1 True ENSG00000168434 ENSG00000168434 HGNC:18622 CPOX gene CPOX Expert Review Green;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Coproporphyria 121300;Hereditary coproporphyria (Acute neuropathic porphyrias);Harderoporphyria 121300 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000080819 ENSG00000080819 HGNC:2321 CPT2 gene CPT2 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "CPT II deficiency, infantile, MIM# 600649" Abnormality of the liver;HP:0001392 8651281;1528846;12410208 False 3 100;0;0 2.1 True ENSG00000157184 ENSG00000157184 HGNC:2330 CYB5R3 gene CYB5R3 Expert Review Green Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606 Abnormality of the liver;HP:0001392 2107882, 1707593, 12393396 False 3 0;0;0 2.1 False ENSG00000100243 ENSG00000100243 HGNC:2873 CYP27A1 gene CYP27A1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, MIM# 213700 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 3, MIM# 613812" Abnormality of the liver;HP:0001392 9802883;31337596;21567895;24658845 False 3 100;0;0 2.1 True ENSG00000172817 ENSG00000172817 HGNC:2652 CYP7B1 gene CYP7B1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3, MIM# 613812 Abnormality of the liver;HP:0001392 31337596;30366773;9802883 False 3 100;0;0 2.1 True ENSG00000172817 ENSG00000172817 HGNC:2652 DCDC2 gene DCDC2 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sclerosing cholangitis, neonatal, MIM# 617394 Abnormality of the liver;HP:0001392 27319779;27469900 False 3 100;0;0 2.1 True ENSG00000146038 ENSG00000146038 HGNC:18141 DGUOK gene DGUOK Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000114956 ENSG00000114956 HGNC:2858 DGUOK gene DGUOK Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000114956 ENSG00000114956 HGNC:2858 DNAJB11 gene DNAJB11 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 6 with or without polycystic liver disease (618061);Ivermark II syndrome Abnormality of the liver;HP:0001392 29706351;29777155;33129895 False 3 100;0;0 2.1 True ENSG00000090520 ENSG00000090520 HGNC:14889 FAH gene FAH Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinaemia, type I, MIM# 276700 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000103876 ENSG00000103876 HGNC:3579 FAH gene FAH Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I, MIM#276700 Abnormality of the liver;HP:0001392 15759101 False 3 100;0;0 2.1 True ENSG00000103876 ENSG00000103876 HGNC:3579 FECH gene FECH Expert Review Green;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, autosomal recessive, 177000 Abnormality of the liver;HP:0001392 20105171;23016163 False 3 100;0;0 2.1 True ENSG00000066926 ENSG00000066926 HGNC:3647 FH gene FH Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, MIM#606812 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000091483 ENSG00000091483 HGNC:3700 FOCAD gene FOCAD Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Liver disease, severe congenital, MIM# 619991 Abnormality of the liver;HP:0001392 PMID: 35864190 False 3 100;0;0 2.1 True ENSG00000188352 ENSG00000188352 HGNC:23377 FOCAD gene FOCAD Expert Review Green;Expert Review Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Liver disease, severe congenital, MIM# 619991 Abnormality of the liver;HP:0001392 35864190 False 3 100;0;0 2.1 True ENSG00000188352 ENSG00000188352 HGNC:23377 GALM gene GALM Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal type IV galactosaemia Abnormality of the liver;HP:0001392 30451973;30910422 False 3 100;0;0 2.1 True ENSG00000143891 ENSG00000143891 HGNC:24063 GALT gene GALT Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia, MIM# 230400 Abnormality of the liver;HP:0001392 30693370 False 3 100;0;0 2.1 True ENSG00000213930 ENSG00000213930 HGNC:4135 GALT gene GALT Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MIM#230400 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000213930 ENSG00000213930 HGNC:4135 GANAB gene GANAB Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 3 (600666) Abnormality of the liver;HP:0001392 29243290;27259053;28862642 False 3 100;0;0 2.1 True ENSG00000089597 ENSG00000089597 HGNC:4138 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease Abnormality of the liver;HP:0001392 32324335 False 3 100;0;0 2.1 True ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease IV, MIM# 232500" Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000114480 ENSG00000114480 HGNC:4180 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM# 232500 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000114480 ENSG00000114480 HGNC:4180 GFM1 gene GFM1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 1, MIM# 609060" Abnormality of the liver;HP:0001392 31680380;23430926 False 3 100;0;0 2.1 True ENSG00000168827 ENSG00000168827 HGNC:13780 HADHA gene HADHA Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial trifunctional protein deficiency, MIM# 609015" Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Trifunctional protein deficiency, MIM# 609015" Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000138029 ENSG00000138029 HGNC:4803 HMBS gene HMBS Expert Review Green;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent, 176000;Porphyria, acute intermittent, nonerythroid variant, 176000 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000256269 ENSG00000256269 HGNC:4982 HMOX1 gene HMOX1 Expert Review Green Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;heme oxygenase 1 deficiency MONDO:0013536 Abnormality of the liver;HP:0001392 21088618, 9884342, 20844238, 33066778 False 3 0;0;0 2.1 False ENSG00000100292 ENSG00000100292 HGNC:5013 HNF1B gene HNF1B Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM# 137920 Abnormality of the liver;HP:0001392 28324003;29727438;30791938;25741167 False 3 100;0;0 2.1 True ENSG00000108753 ENSG00000275410 HGNC:11630 HSD3B7 gene HSD3B7 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 1 MIM#607765 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000099377 ENSG00000099377 HGNC:18324 HSD3B7 gene HSD3B7 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 1, MIM# 607765" Abnormality of the liver;HP:0001392 12679481;11067870 False 3 100;0;0 2.1 True ENSG00000099377 ENSG00000099377 HGNC:18324 IARS gene IARS Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093" Abnormality of the liver;HP:0001392 27426735;27891590 False 3 100;0;0 2.1 True ENSG00000196305 ENSG00000196305 HGNC:5330 JAG1 gene JAG1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome, MIM#118450 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000101384 ENSG00000101384 HGNC:6188 JAG1 gene JAG1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome, MIM# 118450 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000101384 ENSG00000101384 HGNC:6188 KIF12 gene KIF12 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 8, MIM# 619662 Abnormality of the liver;HP:0001392 30250217;30976738 False 3 100;0;0 2.1 True ENSG00000136883 ENSG00000136883 HGNC:21495 LARS gene LARS Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438 Abnormality of the liver;HP:0001392 30349989 False 3 100;0;0 2.1 True ENSG00000133706 ENSG00000133706 HGNC:6512 LIPA gene LIPA Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease, MIM# 278000;Wolman disease, MIM# 278000 Abnormality of the liver;HP:0001392 8617513;21963785 False 3 100;0;0 2.1 True ENSG00000107798 ENSG00000107798 HGNC:6617 LRP5 gene LRP5 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 4 with or without kidney cysts (617875) Abnormality of the liver;HP:0001392 25920554 False 3 100;0;0 2.1 True ENSG00000162337 ENSG00000162337 HGNC:6697 MARS gene MARS Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung and liver disease, MIM#615486 Abnormality of the liver;HP:0001392 24103465;25913036 False 3 100;0;0 2.1 True ENSG00000166986 ENSG00000166986 HGNC:6898 MED12 gene MED12 Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders Other Hardikar syndrome, MIM# 301068 Abnormality of the liver;HP:0001392 PMID: 33244166 False 3 100;0;0 2.1 True ENSG00000184634 ENSG00000184634 HGNC:11957 MPI gene MPI Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579 Abnormality of the liver;HP:0001392 25902754 False 3 100;0;0 2.1 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000115204 ENSG00000115204 HGNC:7224 MPV17 gene MPV17 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810" Abnormality of the liver;HP:0001392 18695062 False 3 100;0;0 2.1 True ENSG00000115204 ENSG00000115204 HGNC:7224 MYO5B gene MYO5B Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis;Microvillus inclusion disease, MIM#251850 Abnormality of the liver;HP:0001392 28027573;27532546 False 3 100;0;0 2.1 True ENSG00000167306 ENSG00000167306 HGNC:7603 NBAS gene NBAS Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Infantile liver failure syndrome 2, MIM# 616483" Abnormality of the liver;HP:0001392 26073778 False 3 100;0;0 2.1 True ENSG00000151779 ENSG00000151779 HGNC:15625 NOTCH2 gene NOTCH2 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2 (MIM#610205) Abnormality of the liver;HP:0001392 16773578;21378985;21378989 False 3 100;0;0 2.1 True ENSG00000134250 ENSG00000134250 HGNC:7882 NOTCH2 gene NOTCH2 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Alagille syndrome 2, MIM# 610205" Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000134250 ENSG00000134250 HGNC:7882 NPC1 gene NPC1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, MIM# 257220 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC1 gene NPC1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Niemann-Pick disease, MIM# 257220" Abnormality of the liver;HP:0001392 25902754 False 3 100;0;0 2.1 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2 MIM#607625 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP3 gene NPHP3 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Abnormality of the liver;HP:0001392 18371931;20007846;32341812 False 3 100;0;0 2.1 True ENSG00000113971 ENSG00000113971 HGNC:7907 NR1H4 gene NR1H4 Expert Review Green Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Disorders of bile acid metabolism;cholestasis, progressive familial intrahepatic, 5 MONDO:0014884 Abnormality of the liver;HP:0001392 26888176, 32443034 False 3 0;0;0 2.1 False ENSG00000012504 ENSG00000012504 HGNC:7967 NR1H4 gene NR1H4 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 5, MIM# 617049 Abnormality of the liver;HP:0001392 26888176;32443034 False 3 100;0;0 2.1 True ENSG00000012504 ENSG00000012504 HGNC:7967 NR1H4 gene NR1H4 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic, 5, MIM# 617049" Abnormality of the liver;HP:0001392 26888176;32443034 False 3 100;0;0 2.1 True ENSG00000012504 ENSG00000012504 HGNC:7967 OTC gene OTC Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Ornithine transcarbamylase deficiency, MIM# 311250" Abnormality of the liver;HP:0001392 28887792;25902754 False 3 100;0;0 2.1 True ENSG00000036473 ENSG00000036473 HGNC:8512 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX12 gene PEX12 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859) Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX2 gene PEX2 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX6 gene PEX6 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000124587 ENSG00000124587 HGNC:8859 PHKG2 gene PHKG2 Expert Review Green;Expert Review Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IXc, MIM# 613027 Abnormality of the liver;HP:0001392 8896567;9384616;10905889 False 3 100;0;0 2.1 True ENSG00000156873 ENSG00000156873 HGNC:8931 PKD1 gene PKD1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) Abnormality of the liver;HP:0001392 8554072;3178424;9211343 False 3 100;0;0 2.1 True ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) Abnormality of the liver;HP:0001392 29321346 False 3 100;0;0 2.1 True ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease (263200) Abnormality of the liver;HP:0001392 11135065;30211211;11919560;28862642;11337358 False 3 100;0;0 2.1 True ENSG00000170927 ENSG00000170927 HGNC:9016 PKHD1 gene PKHD1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Abnormality of the liver;HP:0001392 30366773;25771912;8616994 False 3 100;0;0 2.1 True ENSG00000170927 ENSG00000170927 HGNC:9016 POLG gene POLG Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700" Abnormality of the liver;HP:0001392 20220442 False 3 100;0;0 2.1 True ENSG00000140521 ENSG00000140521 HGNC:9179 PPOX gene PPOX Expert Review Green;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Porphyria variegata, MIM# 176200;Variegate porphyria, childhood-onset, MIM# 620483 Abnormality of the liver;HP:0001392 27982422;9811936;11286631;33159949 False 3 100;0;0 2.1 True ENSG00000143224 ENSG00000143224 HGNC:9280 PRKCSH gene PRKCSH Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic Liver Disease 1 with or without kidney cysts (174050) Abnormality of the liver;HP:0001392 11047756;29038287;12529853;12577059 False 3 100;0;0 2.1 True ENSG00000130175 ENSG00000130175 HGNC:9411 PSKH1 gene PSKH1 Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 Abnormality of the liver;HP:0001392 PMID: 39132680 False 3 100;0;0 2.1 True ENSG00000159792 ENSG00000159792 HGNC:9529 PYGL gene PYGL Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI, MIM# 232700 Abnormality of the liver;HP:0001392 32892177 False 3 100;0;0 2.1 True ENSG00000100504 ENSG00000100504 HGNC:9725 RINT1 gene RINT1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Infantile liver failure syndrome 3, MIM# 618641" Abnormality of the liver;HP:0001392 31204009 False 3 100;0;0 2.1 True ENSG00000135249 ENSG00000135249 HGNC:21876 SCYL1 gene SCYL1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21, MIM#616719 Abnormality of the liver;HP:0001392 26581903;29419818;30531813 False 3 100;0;0 2.1 True ENSG00000142186 ENSG00000142186 HGNC:14372 SEC63 gene SEC63 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic Liver Disease 2 with or without kidney cysts (617004) Abnormality of the liver;HP:0001392 15133510 False 3 100;0;0 2.1 True ENSG00000025796 ENSG00000025796 HGNC:21082 SERAC1 gene SERAC1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739" Abnormality of the liver;HP:0001392 29205472 False 3 100;0;0 2.1 True ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINA1 gene SERPINA1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel 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 Abnormality of the liver;HP:0001392 20301692;9041988;34408829 False 3 100;0;0 2.1 True ENSG00000197249 ENSG00000197249 HGNC:8941 SH2D1A gene SH2D1A Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Lymphoproliferative syndrome, X-linked, 1, MIM# 308240" Abnormality of the liver;HP:0001392 6306053;9771704 False 3 100;0;0 2.1 True ENSG00000183918 ENSG00000183918 HGNC:10820 SKIV2L gene SKIV2L Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, MIM# 614602;Respiratory infections;IUGR;Facial dysmorphic features;Wooly hair;Early-onset intractable diarrhoea;Liver cirrhosis;Platelet abnormalities Abnormality of the liver;HP:0001392 22444670;33114497;30397475;29527791;29484573 False 3 100;0;0 2.1 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC25A13 gene SLC25A13 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia, type II, neonatal-onset, MIM# 605814 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A13 gene SLC25A13 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Citrullinemia, type II, neonatal-onset, MIM# 605814" Abnormality of the liver;HP:0001392 21424115;11343052 False 3 100;0;0 2.1 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC30A10 gene SLC30A10 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, MIM# 613280 Abnormality of the liver;HP:0001392 22341972;22341971;29193034 False 3 100;0;0 2.1 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC37A4 gene SLC37A4 Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital disorder of glycosylation Abnormality of the liver;HP:0001392 33964207 False 3 100;0;0 2.1 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLCO1B1 gene SLCO1B1 Expert Review Green Liverome Superpanel Gastroenterological disorders Other Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Abnormality of the liver;HP:0001392 36964102, 33860121 False 3 0;0;0 2.1 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Green Liverome Superpanel Gastroenterological disorders Other Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Abnormality of the liver;HP:0001392 36964102, 33860121 False 3 0;0;0 2.1 False ENSG00000111700 ENSG00000111700 HGNC:10961 STN1 gene STN1 Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Abnormality of the liver;HP:0001392 27432940;32627942 False 3 100;0;0 2.1 True ENSG00000107960 ENSG00000107960 HGNC:26200 TALDO1 gene TALDO1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, MIM# 606003 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000177156 ENSG00000177156 HGNC:11559 TALDO1 gene TALDO1 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, MIM#606003 Abnormality of the liver;HP:0001392 29923087;23315216;26238251;18331807 False 3 100;0;0 2.1 True ENSG00000177156 ENSG00000177156 HGNC:11559 TJP2 gene TJP2 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic 4, MIM# 615878" Abnormality of the liver;HP:0001392 24614073;25921221;31696999 False 3 100;0;0 2.1 True ENSG00000119139 ENSG00000119139 HGNC:11828 TJP2 gene TJP2 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 4, MIM# 615878 Abnormality of the liver;HP:0001392 24614073;25921221;31696999 False 3 100;0;0 2.1 True ENSG00000119139 ENSG00000119139 HGNC:11828 TRMU gene TRMU Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Liver failure, transient infantile, MIM# 613070" Abnormality of the liver;HP:0001392 19732863 False 3 100;0;0 2.1 True ENSG00000100416 ENSG00000100416 HGNC:25481 TTC26 gene TTC26 Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534;Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations Abnormality of the liver;HP:0001392 34177428;32617964;31595528;24596149;22718903 False 3 100;0;0 2.1 True ENSG00000105948 ENSG00000105948 HGNC:21882 TTC37 gene TTC37 Expert Review Green;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Trichohepatoenteric syndrome 1, MIM# 222470" Abnormality of the liver;HP:0001392 17318842;20176027 False 3 100;0;0 2.1 True ENSG00000198677 ENSG00000198677 HGNC:23639 TULP3 gene TULP3 Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, MIM# 619902 Abnormality of the liver;HP:0001392 PMID: 35397207 False 3 100;0;0 2.1 True ENSG00000078246 ENSG00000078246 HGNC:12425 UGT1A1 gene UGT1A1 Expert Review Green Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725 Abnormality of the liver;HP:0001392 26595536 False 3 0;0;0 2.1 False ENSG00000241635 ENSG00000241635 HGNC:12530 UGT1A1 gene UGT1A1 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome, type I MIM#218800;Crigler-Najjar syndrome, type II MIM#606785 Abnormality of the liver;HP:0001392 False 3 100;0;0 2.1 True ENSG00000241635 ENSG00000241635 HGNC:12530 UNC45A gene UNC45A Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome, MIM# 619377;Cholestasis;Diarrhoea;Bone fragility;Impaired hearing Abnormality of the liver;HP:0001392 29429573 False 3 100;0;0 2.1 True ENSG00000140553 ENSG00000140553 HGNC:30594 UROD gene UROD Expert Review Green;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) Abnormality of the liver;HP:0001392 9792863 False 3 100;0;0 2.1 True ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert Review Green;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Porphyrias with erosive photodermatosis;Porphyria, congenital erythropoietic 263700 Abnormality of the liver;HP:0001392 8829650;28334762;27512208 False 3 100;0;0 2.1 True ENSG00000188690 ENSG00000188690 HGNC:12592 USP53 gene USP53 Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 Abnormality of the liver;HP:0001392 30250217;32124521;33075013 False 3 100;0;0 2.1 True ENSG00000145390 ENSG00000145390 HGNC:29255 VIPAS39 gene VIPAS39 Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 Abnormality of the liver;HP:0001392 20190753 False 3 100;0;0 2.1 True ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Abnormality of the liver;HP:0001392 31240160;31777725;24415890;15052268 False 3 100;0;0 2.1 True ENSG00000184056 ENSG00000184056 HGNC:12712 VPS50 gene VPS50 Expert Review Green;Literature Liverome Superpanel 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 Abnormality of the liver;HP:0001392 34037727 False 3 50;50;0 2.1 True ENSG00000004766 ENSG00000004766 HGNC:25956 WDR83OS gene WDR83OS Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016" Abnormality of the liver;HP:0001392 39471804;30250217 False 3 50;0;50 2.1 True ENSG00000105583 ENSG00000105583 HGNC:30203 ZFYVE19 gene ZFYVE19 Expert Review Green;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis Abnormality of the liver;HP:0001392 32737136 False 3 100;0;0 2.1 True ENSG00000166140 ENSG00000166140 HGNC:20758 ABCD3 gene ABCD3 Expert Review;Expert Review Amber Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 5 (MIM#616278) Abnormality of the liver;HP:0001392 25168382 False 2 0;100;0 2.1 True ENSG00000117528 ENSG00000117528 HGNC:67 ALG9 gene ALG9 Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver and kidney disease Abnormality of the liver;HP:0001392 31395617;30652979 False 2 0;100;0 2.1 True ENSG00000086848 ENSG00000086848 HGNC:15672 BLVRA gene BLVRA Expert Review Amber Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;hyperbiliverdinemia MONDO:0013595 Abnormality of the liver;HP:0001392 19580635, 21278388 False 2 0;0;0 2.1 False ENSG00000106605 ENSG00000106605 HGNC:1062 CFTR gene CFTR Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis, MIM# 219700 Abnormality of the liver;HP:0001392 25097709 False 2 0;100;0 2.1 True ENSG00000001626 ENSG00000001626 HGNC:1884 CYB5A gene CYB5A Expert Review Amber Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;methemoglobinemia type 4 MONDO:0009605 Abnormality of the liver;HP:0001392 22170710, 20080843, 32051920, 3951505 False 2 0;0;0 2.1 False ENSG00000166347 ENSG00000166347 HGNC:2570 DHCR7 gene DHCR7 Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM# 270400 Abnormality of the liver;HP:0001392 20052364 False 2 0;100;0 2.1 True ENSG00000172893 ENSG00000172893 HGNC:2860 GATA1 gene GATA1 Expert Review Amber;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;Congenital erythropoietic porphyria Abnormality of the liver;HP:0001392 25251786;17148589 False 2 0;100;0 2.1 True ENSG00000102145 ENSG00000102145 HGNC:4170 IARS gene IARS Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Abnormality of the liver;HP:0001392 27426735;27891590 False 2 50;50;0 2.1 True ENSG00000196305 ENSG00000196305 HGNC:5330 LARS gene LARS Expert Review Amber;NHS GMS Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438 Abnormality of the liver;HP:0001392 28774368;30349989;22607940 False 2 50;50;0 2.1 True ENSG00000133706 ENSG00000133706 HGNC:6512 LIPA gene LIPA Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease, MIM# 278000;Wolman disease, MIM# 278000 Abnormality of the liver;HP:0001392 False 2 0;100;0 2.1 True ENSG00000107798 ENSG00000107798 HGNC:6617 LSR gene LSR Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal transient neonatal cholestasis;intellectual disability;short stature Abnormality of the liver;HP:0001392 32303357;30250217 False 2 0;100;0 2.1 True ENSG00000105699 ENSG00000105699 HGNC:29572 MMP15 gene MMP15 Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis;Congenital heart disease Abnormality of the liver;HP:0001392 33875846 False 2 0;100;0 2.1 True ENSG00000102996 ENSG00000102996 HGNC:7161 MPI gene MPI Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579 Abnormality of the liver;HP:0001392 False 2 0;100;0 2.1 True ENSG00000178802 ENSG00000178802 HGNC:7216 MRM2 gene MRM2 Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 17, MIM# 618567" Abnormality of the liver;HP:0001392 28973171 False 2 0;100;0 2.1 True ENSG00000122687 ENSG00000122687 HGNC:16352 MTM1 gene MTM1 Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, centronuclear, X-linked, MIM# 310400 Abnormality of the liver;HP:0001392 PMID: 37490339 False 2 0;100;0 2.1 True ENSG00000171100 ENSG00000171100 HGNC:7448 PEX14 gene PEX14 Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 Abnormality of the liver;HP:0001392 21686775;18285423 False 2 0;100;0 2.1 True ENSG00000142655 ENSG00000142655 HGNC:8856 PLEC gene PLEC Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related Abnormality of the liver;HP:0001392 39168815 False 2 0;100;0 2.1 True ENSG00000178209 ENSG00000178209 HGNC:9069 POLG2 gene POLG2 Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM# 618528;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4 610131" Abnormality of the liver;HP:0001392 27592148;30157269;21555342 False 2 0;100;0 2.1 True ENSG00000256525 ENSG00000256525 HGNC:9180 SEC16B gene SEC16B Expert Review Amber;Expert Review Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related Abnormality of the liver;HP:0001392 28375157;28862642;30652979 False 2 0;100;0 2.1 True ENSG00000120341 ENSG00000120341 HGNC:30301 SEC61B gene SEC61B Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease with or without renal cysts Abnormality of the liver;HP:0001392 28862642;30652979;28375157 False 2 0;100;0 2.1 True ENSG00000106803 ENSG00000106803 HGNC:16993 SEMA7A gene SEMA7A Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874 Abnormality of the liver;HP:0001392 34585848 False 2 0;100;0 2.1 True ENSG00000138623 ENSG00000138623 HGNC:10741 TFAM gene TFAM Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 Abnormality of the liver;HP:0001392 27448789;29021295;9500544 False 2 0;100;0 2.1 True ENSG00000108064 ENSG00000108064 HGNC:11741 TKFC gene TKFC Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, MIM#618805;Developmental delay;cataracts;liver dysfunction Abnormality of the liver;HP:0001392 32004446 False 2 0;100;0 2.1 True ENSG00000149476 ENSG00000149476 HGNC:24552 TRMU gene TRMU Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile, MIM# 613070 Abnormality of the liver;HP:0001392 False 2 0;100;0 2.1 True ENSG00000100416 ENSG00000100416 HGNC:25481 YKT6 gene YKT6 Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, YKT6-related Abnormality of the liver;HP:0001392 38522068 False 2 0;100;0 2.1 True ENSG00000106636 ENSG00000106636 HGNC:16959 ABCB6 gene ABCB6 Expert Review Red Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial pseudohyperkalemia MONDO:0012204;Disorders of heme synthesis and porphyrias Abnormality of the liver;HP:0001392 24947683 False 1 0;0;0 2.1 False ENSG00000115657 ENSG00000115657 HGNC:47 ABCG5 gene ABCG5 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 2, MIM# 618666 Abnormality of the liver;HP:0001392 18441155 False 1 0;0;100 2.1 True ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 1, MIM# 210250 Abnormality of the liver;HP:0001392 18441155 False 1 0;0;100 2.1 True ENSG00000143921 ENSG00000143921 HGNC:13887 ARG1 gene ARG1 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Argininemia, MIM# 207800 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000118520 ENSG00000118520 HGNC:663 COQ2 gene COQ2 Expert Review Red;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, MIM#607426 Abnormality of the liver;HP:0001392 17332895 False 1 0;0;100 2.1 True ENSG00000173085 ENSG00000173085 HGNC:25223 CYC1 gene CYC1 Expert Review Red;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453" Abnormality of the liver;HP:0001392 23910460 False 1 0;0;100 2.1 True ENSG00000179091 ENSG00000179091 HGNC:2579 HADHA gene HADHA Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency, MIM# 609016;Mitochondrial trifunctional protein deficiency, MIM# 609015 Abnormality of the liver;HP:0001392 9003853 False 1 0;0;100 2.1 True ENSG00000084754 ENSG00000084754 HGNC:4801 HAMP gene HAMP Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B, MIM# 613313 Abnormality of the liver;HP:0001392 12469120 False 1 0;0;100 2.1 True ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, MIM# 235200 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000010704 ENSG00000010704 HGNC:4886 HFE gene HFE Expert Review Red;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Porphyria cutanea tarda, susceptibility to}, 176100;{Porphyria variegata, susceptibility to}, 176200 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, MIM# 602390 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000168509 ENSG00000168509 HGNC:4887 IL18BP gene IL18BP Expert Review Red;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "{?Hepatitis, fulminant viral, susceptibility to} 618549" Abnormality of the liver;HP:0001392 31213488 False 1 0;0;100 2.1 True ENSG00000137496 ENSG00000137496 HGNC:5987 INVS gene INVS Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, MIM# 602088 Abnormality of the liver;HP:0001392 10421642 False 1 0;0;100 2.1 True ENSG00000119509 ENSG00000119509 HGNC:17870 MKS1 gene MKS1 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 1, MIM# 249000 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000011143 ENSG00000011143 HGNC:7121 MVK gene MVK Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, MIM# 610377 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000110921 ENSG00000110921 HGNC:7530 NPHP1 gene NPHP1 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4 609583;Nephronophthisis 1, juvenile ,MIM# 256100;Senior-Loken syndrome-1 , MIM#266900 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP4 gene NPHP4 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, MIM# 606966;Senior-Loken syndrome 4, MIM# 606996 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000131697 ENSG00000131697 HGNC:19104 PEX10 gene PEX10 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B, MIM# 614920 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX13 gene PEX13 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX16 gene PEX16 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876 Abnormality of the liver;HP:0001392 20683989 False 1 0;0;100 2.1 True ENSG00000162735 ENSG00000162735 HGNC:9713 PEX3 gene PEX3 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX7 gene PEX7 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000112357 ENSG00000112357 HGNC:8860 POLG gene POLG Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000140521 ENSG00000140521 HGNC:9179 PPM1F gene PPM1F Expert Review Red;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal sclerosing cholangitis;short stature;hypothyroidism;abnormal tongue pigmentatio Abnormality of the liver;HP:0001392 30250217 False 1 0;0;100 2.1 True ENSG00000100034 ENSG00000100034 HGNC:19388 PTF1A gene PTF1A Expert Review Red;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Pancreatic agenesis 2, MIM# 615935" Abnormality of the liver;HP:0001392 24212882 False 1 0;0;100 2.1 True ENSG00000168267 ENSG00000168267 HGNC:23734 SLC10A2 gene SLC10A2 Expert Review Red Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal bile acid malabsorption, primary, 1 MONDO:0013214;Disorders of bile acid metabolism Abnormality of the liver;HP:0001392 9109432 False 1 0;0;0 2.1 False ENSG00000125255 ENSG00000125255 HGNC:10906 SLC27A5 gene SLC27A5 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders Unknown Disorder of bile acid metabolism Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000083807 ENSG00000083807 HGNC:10999 SLC30A10 gene SLC30A10 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, MIM# 613280 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC40A1 gene SLC40A1 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4, MIM# 606069 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000138449 ENSG00000138449 HGNC:10909 SLC51A gene SLC51A Expert Review Red;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic, 6, MIM# 619484" Abnormality of the liver;HP:0001392 31863603 False 1 0;0;100 2.1 True ENSG00000163959 ENSG00000163959 HGNC:29955 SLC51B gene SLC51B Expert Review Red;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid malabsorption, primary, 2, MIM# 619481;Congenital diarrhoea;Cholestasis Abnormality of the liver;HP:0001392 28898457 False 1 0;0;100 2.1 True ENSG00000186198 ENSG00000186198 HGNC:29956 SMPD1 gene SMPD1 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000166311 ENSG00000166311 HGNC:11120 TFR2 gene TFR2 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 3 (MIM#604250) Abnormality of the liver;HP:0001392 24847265;29743178 False 1 0;0;100 2.1 True ENSG00000106327 ENSG00000106327 HGNC:11762 TMEM216 gene TMEM216 Expert Review Red;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 2, MIM# 603194 Abnormality of the liver;HP:0001392 False 1 0;0;100 2.1 True ENSG00000187049 ENSG00000187049 HGNC:25018