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 Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal progressive familial intrahepatic cholestasis type 2 MONDO:0011156;Disorders of bile acid metabolism Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 9806540 False 3 0;0;0 0.17 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of bile acid metabolism;progressive familial intrahepatic cholestasis type 3 MONDO:0011214 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 8666348 False 3 0;0;0 0.17 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCC2 gene ABCC2 Expert Review Green Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;Dubin-Johnson syndrome MONDO:0009380 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 21044052, 11477083 False 3 0;0;0 0.17 False ENSG00000023839 ENSG00000023839 HGNC:53 ALAD gene ALAD Expert Review Green;Royal Melbourne Hospital Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic 612740;{Lead poisoning, susceptibility to} 612740;Acute hepatic porphyria (Acute neuropathic porphyrias) Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 16343966;30724374;31311713 False 3 100;0;0 0.17 True ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert Review Green;Royal Melbourne Hospital Haem degradation and bilirubin metabolism defects Metabolic 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 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 False 3 0;0;0 0.17 True ENSG00000158578 ENSG00000158578 HGNC:397 ATP8B1 gene ATP8B1 Expert Review Green Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal progressive familial intrahepatic cholestasis type 1 MONDO:0008892;Disorders of bile acid metabolism Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 9500542 False 3 0;0;0 0.17 False ENSG00000081923 ENSG00000081923 HGNC:3706 CPOX gene CPOX Expert Review Green;Royal Melbourne Hospital Haem degradation and bilirubin metabolism defects Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Coproporphyria 121300;Hereditary coproporphyria (Acute neuropathic porphyrias);Harderoporphyria 121300 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 False 3 100;0;0 0.17 True ENSG00000080819 ENSG00000080819 HGNC:2321 CYB5R3 gene CYB5R3 Expert Review Green Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 2107882, 1707593, 12393396 False 3 0;0;0 0.17 False ENSG00000100243 ENSG00000100243 HGNC:2873 FECH gene FECH Expert Review Green;Royal Melbourne Hospital Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, autosomal recessive, 177000 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 20105171;23016163 False 3 100;0;0 0.17 True ENSG00000066926 ENSG00000066926 HGNC:3647 HMBS gene HMBS Expert Review Green;Royal Melbourne Hospital Haem degradation and bilirubin metabolism defects Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent, 176000;Porphyria, acute intermittent, nonerythroid variant, 176000 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 False 3 100;0;0 0.17 True ENSG00000256269 ENSG00000256269 HGNC:4982 HMOX1 gene HMOX1 Expert Review Green Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;heme oxygenase 1 deficiency MONDO:0013536 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 21088618, 9884342, 20844238, 33066778 False 3 0;0;0 0.17 False ENSG00000100292 ENSG00000100292 HGNC:5013 NR1H4 gene NR1H4 Expert Review Green Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of bile acid metabolism;cholestasis, progressive familial intrahepatic, 5 MONDO:0014884 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 26888176, 32443034 False 3 0;0;0 0.17 False ENSG00000012504 ENSG00000012504 HGNC:7967 PPOX gene PPOX Expert Review Green;Royal Melbourne Hospital Haem degradation and bilirubin metabolism defects Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Porphyria variegata, MIM# 176200;Variegate porphyria, childhood-onset, MIM# 620483 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 27982422;9811936;11286631;33159949 False 3 100;0;0 0.17 True ENSG00000143224 ENSG00000143224 HGNC:9280 SLCO1B1 gene SLCO1B1 Expert Review Green Haem degradation and bilirubin metabolism defects Metabolic disorders Other Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 36964102, 33860121 False 3 0;0;0 0.17 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Green Haem degradation and bilirubin metabolism defects Metabolic disorders Other Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 36964102, 33860121 False 3 0;0;0 0.17 False ENSG00000111700 ENSG00000111700 HGNC:10961 UGT1A1 gene UGT1A1 Expert Review Green Haem degradation and bilirubin metabolism defects Metabolic 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 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 26595536 False 3 0;0;0 0.17 False ENSG00000241635 ENSG00000241635 HGNC:12530 UROD gene UROD Expert Review Green;Royal Melbourne Hospital Haem degradation and bilirubin metabolism defects Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 9792863 False 3 100;0;0 0.17 True ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert Review Green;Royal Melbourne Hospital Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Porphyrias with erosive photodermatosis;Porphyria, congenital erythropoietic 263700 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 8829650;28334762;27512208 False 3 100;0;0 0.17 True ENSG00000188690 ENSG00000188690 HGNC:12592 BLVRA gene BLVRA Expert Review Amber Haem degradation and bilirubin metabolism defects Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;hyperbiliverdinemia MONDO:0013595 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 19580635, 21278388 False 2 0;0;0 0.17 False ENSG00000106605 ENSG00000106605 HGNC:1062 CYB5A gene CYB5A Expert Review Amber Haem degradation and bilirubin metabolism defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;methemoglobinemia type 4 MONDO:0009605 Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 22170710, 20080843, 32051920, 3951505 False 2 0;0;0 0.17 False ENSG00000166347 ENSG00000166347 HGNC:2570 GATA1 gene GATA1 Expert Review Amber;Royal Melbourne Hospital Haem degradation and bilirubin metabolism defects Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;Congenital erythropoietic porphyria Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904 25251786;17148589 False 2 0;100;0 0.17 True ENSG00000102145 ENSG00000102145 HGNC:4170