Liverome Superpanel (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 200 Entitiess
Green List (high evidence)	ABCB11 Cholestasis v1.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR Tags
Green List (high evidence)	ABCB11 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes progressive familial intrahepatic cholestasis type 2 MONDO:0011156 Disorders of bile acid metabolism Tags
Green List (high evidence)	ABCB11 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis, progressive familial intrahepatic 2, MIM# 601847 Tags
Green List (high evidence)	ABCB4 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis, progressive familial intrahepatic 3, MIM# 602347 Tags
Green List (high evidence)	ABCB4 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of bile acid metabolism progressive familial intrahepatic cholestasis type 3 MONDO:0011214 Tags
Green List (high evidence)	ABCB4 Cholestasis v1.0	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347 disorder of bile acid metabolism Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972) Gallbladder disease 1 (MIM#600803) Tags
Green List (high evidence)	ABCC2 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dubin-Johnson syndrome, MIM# 237500 Tags
Green List (high evidence)	ABCC2 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of haem degradation and bilirubin metabolism Dubin-Johnson syndrome MONDO:0009380 Tags
Green List (high evidence)	ACADM Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Tags treatable
Green List (high evidence)	ADK Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 Tags
Green List (high evidence)	AKR1D1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bile acid synthesis defect, congenital, 2, MIM# 235555 Tags treatable
Green List (high evidence)	AKR1D1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 2, MIM# 235555 Tags treatable
Green List (high evidence)	ALAD Haem degradation and bilirubin metabolism defects v0.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria, acute hepatic 612740 {Lead poisoning, susceptibility to} 612740 Acute hepatic porphyria (Acute neuropathic porphyrias) Tags
Green List (high evidence)	ALAS2 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Protoporphyria, erythropoietic, X-linked, 300752 Anemia, sideroblastic, X-linked, 300751 Tags
Green List (high evidence)	ALDOB Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fructose intolerance, hereditary, MIM# 229600 Tags treatable
Green List (high evidence)	ALDOB Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fructose intolerance, hereditary, MIM# 229600 Tags treatable
Green List (high evidence)	ALG5 Polycystic liver disease v1.8	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Polycystic kidney disease 7, MIM# 620056 Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline Tags
Green List (high evidence)	ALG8 Polycystic liver disease v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic liver disease 3 with or without kidney cysts, MIM# 617874 Tags
Green List (high evidence)	ALMS1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Alstrom syndrome, MIM# 203800 Tags
Green List (high evidence)	AMACR Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Tags
Green List (high evidence)	AMACR Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Tags
Green List (high evidence)	ATP6AP1 Liver Failure_Paediatric v1.24	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 47, MIM# 300972 Tags
Green List (high evidence)	ATP6AP2 Liver Failure_Paediatric v1.24	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type IIr, MIM# 301045 Tags
Green List (high evidence)	ATP7B Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wilson disease, MIM# 277900 Tags
Green List (high evidence)	ATP7B Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Wilson disease, MIM#277900 Tags
Green List (high evidence)	ATP8B1 Cholestasis v1.0	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 1, MIM# 211600 Cholestasis, benign recurrent intrahepatic, MIM# 243300 Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480 Tags
Green List (high evidence)	ATP8B1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis, progressive familial intrahepatic 1, MIM# 211600 Tags
Green List (high evidence)	ATP8B1 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes progressive familial intrahepatic cholestasis type 1 MONDO:0008892 Disorders of bile acid metabolism Tags
Green List (high evidence)	BAAT Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid conjugation defect 1, MIM# 619232 Tags
Green List (high evidence)	BCS1L Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GRACILE syndrome, MIM# 603358 Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400 Tags
Green List (high evidence)	BCS1L Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GRACILE syndrome, MIM# 603358 Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400 Tags
Green List (high evidence)	CC2D2A Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes COACH syndrome 2, MIM# 619111 Meckel syndrome 6, MIM#612284 Tags
Green List (high evidence)	CCDC115 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type IIo, MIM# 616828 Tags
Green List (high evidence)	CLDN1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626 Tags
Green List (high evidence)	COG7 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green List (high evidence)	CPOX Haem degradation and bilirubin metabolism defects v0.17	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Coproporphyria 121300 Hereditary coproporphyria (Acute neuropathic porphyrias) Harderoporphyria 121300 Tags
Green List (high evidence)	CPT2 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes CPT II deficiency, infantile, MIM# 600649 Tags treatable
Green List (high evidence)	CYB5R3 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of haem degradation and bilirubin metabolism methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606 Tags
Green List (high evidence)	CYP27A1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Tags
Green List (high evidence)	CYP7B1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bile acid synthesis defect, congenital, 3, MIM# 613812 Tags
Green List (high evidence)	CYP7B1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 3, MIM# 613812 Tags
Green List (high evidence)	DCDC2 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sclerosing cholangitis, neonatal, MIM# 617394 Tags
Green List (high evidence)	DGUOK Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Tags
Green List (high evidence)	DGUOK Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880 Tags
Green List (high evidence)	DNAJB11 Polycystic liver disease v1.8	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polycystic kidney disease 6 with or without polycystic liver disease (618061) Ivermark II syndrome Tags
Green List (high evidence)	FAH Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tyrosinaemia, type I, MIM# 276700 Tags treatable
Green List (high evidence)	FAH Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Tyrosinemia, type I, MIM#276700 Tags treatable
Green List (high evidence)	FECH Haem degradation and bilirubin metabolism defects v0.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Protoporphyria, erythropoietic, autosomal recessive, 177000 Tags deep intronic SV/CNV
Green List (high evidence)	FH Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fumarase deficiency, MIM#606812 Tags
Green List (high evidence)	FOCAD Liver Failure_Paediatric v1.24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Liver disease, severe congenital, MIM# 619991 Tags
Green List (high evidence)	FOCAD Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Liver disease, severe congenital, MIM# 619991 Tags
Green List (high evidence)	GALM Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes type IV galactosaemia Tags
Green List (high evidence)	GALT Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galactosemia, MIM# 230400 Tags treatable
Green List (high evidence)	GALT Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Galactosaemia, MIM#230400 Tags treatable
Green List (high evidence)	GANAB Polycystic liver disease v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic kidney disease 3 (600666) Tags
Green List (high evidence)	GBA Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease Tags
Green List (high evidence)	GBE1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycogen storage disease IV, MIM# 232500 Tags
Green List (high evidence)	GBE1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IV, MIM# 232500 Tags
Green List (high evidence)	GFM1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 1, MIM# 609060 Tags
Green List (high evidence)	HADHA Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial trifunctional protein deficiency, MIM# 609015 Tags treatable
Green List (high evidence)	HADHB Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Trifunctional protein deficiency, MIM# 609015 Tags treatable
Green List (high evidence)	HMBS Haem degradation and bilirubin metabolism defects v0.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria, acute intermittent, 176000 Porphyria, acute intermittent, nonerythroid variant, 176000 Tags
Green List (high evidence)	HMOX1 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of haem degradation and bilirubin metabolism heme oxygenase 1 deficiency MONDO:0013536 Tags
Green List (high evidence)	HNF1B Cholestasis v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal cysts and diabetes syndrome, MIM# 137920 Tags
Green List (high evidence)	HSD3B7 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 1 MIM#607765 Tags treatable
Green List (high evidence)	HSD3B7 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bile acid synthesis defect, congenital, 1, MIM# 607765 Tags
Green List (high evidence)	IARS Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093 Tags
Green List (high evidence)	JAG1 Cholestasis v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alagille syndrome, MIM#118450 Tags
Green List (high evidence)	JAG1 Liver Failure_Paediatric v1.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Alagille syndrome, MIM# 118450 Tags
Green List (high evidence)	KIF12 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis, progressive familial intrahepatic, 8, MIM# 619662 Tags
Green List (high evidence)	LARS Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Tags
Green List (high evidence)	LIPA Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Tags treatable
Green List (high evidence)	LRP5 Polycystic liver disease v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic liver disease 4 with or without kidney cysts (617875) Tags
Green List (high evidence)	MARS Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Interstitial lung and liver disease, MIM#615486 Tags
Green List (high evidence)	MED12 Liver Failure_Paediatric v1.24	2 reviews 2 green	Other	Sources Expert Review Green Literature Phenotypes Hardikar syndrome, MIM# 301068 Tags
Green List (high evidence)	MPI Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 Tags
Green List (high evidence)	MPV17 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 Tags
Green List (high evidence)	MPV17 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 Tags
Green List (high evidence)	MYO5B Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis Microvillus inclusion disease, MIM#251850 Tags
Green List (high evidence)	NBAS Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Infantile liver failure syndrome 2, MIM# 616483 Tags
Green List (high evidence)	NOTCH2 Cholestasis v1.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alagille syndrome 2 (MIM#610205) Tags
Green List (high evidence)	NOTCH2 Liver Failure_Paediatric v1.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Alagille syndrome 2, MIM# 610205 Tags
Green List (high evidence)	NPC1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, MIM# 257220 Tags
Green List (high evidence)	NPC1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Niemann-Pick disease, MIM# 257220 Tags
Green List (high evidence)	NPC2 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-pick disease, type C2 MIM#607625 Tags
Green List (high evidence)	NPHP3 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Tags
Green List (high evidence)	NR1H4 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of bile acid metabolism cholestasis, progressive familial intrahepatic, 5 MONDO:0014884 Tags
Green List (high evidence)	NR1H4 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic, 5, MIM# 617049 Tags
Green List (high evidence)	NR1H4 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis, progressive familial intrahepatic, 5, MIM# 617049 Tags
Green List (high evidence)	OTC Liver Failure_Paediatric v1.24	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Ornithine transcarbamylase deficiency, MIM# 311250 Tags
Green List (high evidence)	PEX1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100 Tags
Green List (high evidence)	PEX12 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859) Tags
Green List (high evidence)	PEX2 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 Tags
Green List (high evidence)	PEX26 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Tags
Green List (high evidence)	PEX6 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Tags
Green List (high evidence)	PHKG2 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Glycogen storage disease IXc, MIM# 613027 Tags
Green List (high evidence)	PKD1 Polycystic liver disease v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) Tags
Green List (high evidence)	PKD2 Polycystic liver disease v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) Tags
Green List (high evidence)	PKHD1 Polycystic liver disease v1.8	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polycystic kidney disease 4 with or without hepatic disease (263200) Tags
Green List (high evidence)	PKHD1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Tags
Green List (high evidence)	POLG Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Tags
Green List (high evidence)	PPOX Haem degradation and bilirubin metabolism defects v0.17	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria variegata, MIM# 176200 Variegate porphyria, childhood-onset, MIM# 620483 Tags
Green List (high evidence)	PRKCSH Polycystic liver disease v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic Liver Disease 1 with or without kidney cysts (174050) Tags
Green List (high evidence)	PSKH1 Cholestasis v1.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 Tags
Green List (high evidence)	PYGL Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease VI, MIM# 232700 Tags
Green List (high evidence)	RINT1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Infantile liver failure syndrome 3, MIM# 618641 Tags
Green List (high evidence)	SCYL1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 21, MIM#616719 Tags
Green List (high evidence)	SEC63 Polycystic liver disease v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic Liver Disease 2 with or without kidney cysts (617004) Tags
Green List (high evidence)	SERAC1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green List (high evidence)	SERPINA1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	SH2D1A Liver Failure_Paediatric v1.24	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome, X-linked, 1, MIM# 308240 Tags
Green List (high evidence)	SKIV2L Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602 Respiratory infections IUGR Facial dysmorphic features Wooly hair Early-onset intractable diarrhoea Liver cirrhosis Platelet abnormalities Tags
Green List (high evidence)	SLC25A13 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814 Tags
Green List (high evidence)	SLC25A13 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814 Tags
Green List (high evidence)	SLC30A10 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypermanganesemia with dystonia 1, MIM# 613280 Tags
Green List (high evidence)	SLC37A4 Liver Failure_Paediatric v1.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation Tags
Green List (high evidence)	SLCO1B1 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	Other	Sources Expert Review Green Phenotypes Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Tags
Green List (high evidence)	SLCO1B3 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	Other	Sources Expert Review Green Phenotypes Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Tags
Green List (high evidence)	STN1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Tags
Green List (high evidence)	TALDO1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Transaldolase deficiency, MIM# 606003 Tags
Green List (high evidence)	TALDO1 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Transaldolase deficiency, MIM#606003 Tags
Green List (high evidence)	TJP2 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis, progressive familial intrahepatic 4, MIM# 615878 Tags
Green List (high evidence)	TJP2 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 4, MIM# 615878 Tags
Green List (high evidence)	TRMU Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Liver failure, transient infantile, MIM# 613070 Tags
Green List (high evidence)	TTC26 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534 Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations Tags
Green List (high evidence)	TTC37 Liver Failure_Paediatric v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Trichohepatoenteric syndrome 1, MIM# 222470 Tags
Green List (high evidence)	TULP3 Liver Failure_Paediatric v1.24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hepatorenocardiac degenerative fibrosis, MIM# 619902 Tags
Green List (high evidence)	UGT1A1 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of haem degradation and bilirubin metabolism Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725 Tags
Green List (high evidence)	UGT1A1 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Crigler-Najjar syndrome, type I MIM#218800 Crigler-Najjar syndrome, type II MIM#606785 Tags
Green List (high evidence)	UNC45A Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteootohepatoenteric syndrome, MIM# 619377 Cholestasis Diarrhoea Bone fragility Impaired hearing Tags
Green List (high evidence)	UROD Haem degradation and bilirubin metabolism defects v0.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) Tags
Green List (high evidence)	UROS Haem degradation and bilirubin metabolism defects v0.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyrias with erosive photodermatosis Porphyria, congenital erythropoietic 263700 Tags
Green List (high evidence)	USP53 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 Tags
Green List (high evidence)	VIPAS39 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 Tags
Green List (high evidence)	VPS33B Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Tags
Green List (high evidence)	VPS50 Cholestasis v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Tags
Green List (high evidence)	WDR83OS Cholestasis v1.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016 Tags
Green List (high evidence)	ZFYVE19 Cholestasis v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis Tags
Amber List (moderate evidence)	ABCD3 Liver Failure_Paediatric v1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Bile acid synthesis defect, congenital, 5 (MIM#616278) Tags
Amber List (moderate evidence)	ALG9 Polycystic liver disease v1.8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Polycystic liver and kidney disease Tags
Amber List (moderate evidence)	BLVRA Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Disorders of haem degradation and bilirubin metabolism hyperbiliverdinemia MONDO:0013595 Tags
Amber List (moderate evidence)	CFTR Cholestasis v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cystic fibrosis, MIM# 219700 Tags
Amber List (moderate evidence)	CYB5A Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Disorders of haem degradation and bilirubin metabolism methemoglobinemia type 4 MONDO:0009605 Tags
Amber List (moderate evidence)	DHCR7 Cholestasis v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome, MIM# 270400 Tags
Amber List (moderate evidence)	GATA1 Haem degradation and bilirubin metabolism defects v0.17	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 Congenital erythropoietic porphyria Tags
Amber List (moderate evidence)	IARS Cholestasis v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags new gene name
Amber List (moderate evidence)	LARS Cholestasis v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Tags new gene name
Amber List (moderate evidence)	LIPA Cholestasis v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Tags
Amber List (moderate evidence)	LSR Cholestasis v1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes transient neonatal cholestasis intellectual disability short stature Tags
Amber List (moderate evidence)	MMP15 Cholestasis v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cholestasis Congenital heart disease Tags
Amber List (moderate evidence)	MPI Cholestasis v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 Tags
Amber List (moderate evidence)	MRM2 Liver Failure_Paediatric v1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 17, MIM# 618567 Tags
Amber List (moderate evidence)	MTM1 Liver Failure_Paediatric v1.24	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Myopathy, centronuclear, X-linked, MIM# 310400 Tags
Amber List (moderate evidence)	PEX14 Cholestasis v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 Tags
Amber List (moderate evidence)	PLEC Cholestasis v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related Tags
Amber List (moderate evidence)	POLG2 Liver Failure_Paediatric v1.24	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM# 618528 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4 610131 Tags
Amber List (moderate evidence)	SEC16B Polycystic liver disease v1.8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related Tags
Amber List (moderate evidence)	SEC61B Polycystic liver disease v1.8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Polycystic liver disease with or without renal cysts Tags
Amber List (moderate evidence)	SEMA7A Cholestasis v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874 Tags
Amber List (moderate evidence)	TFAM Liver Failure_Paediatric v1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 Tags
Amber List (moderate evidence)	TKFC Liver Failure_Paediatric v1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Developmental delay cataracts liver dysfunction Tags
Amber List (moderate evidence)	TRMU Cholestasis v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Liver failure, transient infantile, MIM# 613070 Tags
Amber List (moderate evidence)	YKT6 Liver Failure_Paediatric v1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Syndromic disease, MONDO:0002254, YKT6-related Tags
Red List (low evidence)	ABCB6 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes familial pseudohyperkalemia MONDO:0012204 Disorders of heme synthesis and porphyrias Tags
Red List (low evidence)	ABCG5 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Sitosterolemia 2, MIM# 618666 Tags
Red List (low evidence)	ABCG8 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Sitosterolemia 1, MIM# 210250 Tags
Red List (low evidence)	ARG1 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Argininemia, MIM# 207800 Tags
Red List (low evidence)	COQ2 Liver Failure_Paediatric v1.24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM#607426 Tags
Red List (low evidence)	CYC1 Liver Failure_Paediatric v1.24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453 Tags
Red List (low evidence)	HADHA Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes LCHAD deficiency, MIM# 609016 Mitochondrial trifunctional protein deficiency, MIM# 609015 Tags
Red List (low evidence)	HAMP Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 2B, MIM# 613313 Tags
Red List (low evidence)	HFE Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hemochromatosis, MIM# 235200 Tags
Red List (low evidence)	HFE Haem degradation and bilirubin metabolism defects v0.17	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes {Porphyria cutanea tarda, susceptibility to}, 176100 {Porphyria variegata, susceptibility to}, 176200 Tags
Red List (low evidence)	HFE2 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 2A, MIM# 602390 Tags new gene name
Red List (low evidence)	IL18BP Liver Failure_Paediatric v1.24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes {?Hepatitis, fulminant viral, susceptibility to} 618549 Tags
Red List (low evidence)	INVS Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephronophthisis 2, infantile, MIM# 602088 Tags
Red List (low evidence)	MKS1 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Meckel syndrome 1, MIM# 249000 Tags
Red List (low evidence)	MVK Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mevalonic aciduria, MIM# 610377 Tags
Red List (low evidence)	NPHP1 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4 609583 Nephronophthisis 1, juvenile ,MIM# 256100 Senior-Loken syndrome-1 , MIM#266900 Tags
Red List (low evidence)	NPHP4 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 Tags
Red List (low evidence)	PEX10 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870 Tags
Red List (low evidence)	PEX11B Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 14B, MIM# 614920 Tags
Red List (low evidence)	PEX13 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883 Tags
Red List (low evidence)	PEX16 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 Tags
Red List (low evidence)	PEX19 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876 Tags
Red List (low evidence)	PEX3 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886 Tags
Red List (low evidence)	PEX5 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 Tags
Red List (low evidence)	PEX7 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 Tags
Red List (low evidence)	POLG Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Tags
Red List (low evidence)	PPM1F Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes sclerosing cholangitis short stature hypothyroidism abnormal tongue pigmentatio Tags
Red List (low evidence)	PTF1A Liver Failure_Paediatric v1.24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Pancreatic agenesis 2, MIM# 615935 Tags
Red List (low evidence)	SLC10A2 Haem degradation and bilirubin metabolism defects v0.17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes bile acid malabsorption, primary, 1 MONDO:0013214 Disorders of bile acid metabolism Tags
Red List (low evidence)	SLC27A5 Cholestasis v1.0	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Disorder of bile acid metabolism Tags
Red List (low evidence)	SLC30A10 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypermanganesemia with dystonia 1, MIM# 613280 Tags
Red List (low evidence)	SLC40A1 Cholestasis v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 4, MIM# 606069 Tags
Red List (low evidence)	SLC51A Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cholestasis, progressive familial intrahepatic, 6, MIM# 619484 Tags
Red List (low evidence)	SLC51B Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bile acid malabsorption, primary, 2, MIM# 619481 Congenital diarrhoea Cholestasis Tags
Red List (low evidence)	SMPD1 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease Tags
Red List (low evidence)	TFR2 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Haemochromatosis, type 3 (MIM#604250) Tags
Red List (low evidence)	TMEM216 Cholestasis v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Meckel syndrome 2, MIM# 603194 Tags

Liverome Superpanel (Version 2.0)

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185 reviewed, 138 green

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