Cholestasis (Version 0.240)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 95 Entitiess
Green Green List (high evidence)	ABCB11	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 Green List (high evidence)	ABCB4	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 Green List (high evidence)	ABCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dubin-Johnson syndrome, MIM# 237500 Tags
Green Green List (high evidence)	ADK	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 Green List (high evidence)	AKR1D1	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 Green List (high evidence)	ALDOB	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 Green List (high evidence)	AMACR	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ATP7B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wilson disease, MIM# 277900 Tags
Green Green List (high evidence)	ATP8B1	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 Green List (high evidence)	BAAT	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 Green List (high evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes GRACILE syndrome, MIM# 603358 Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400 Tags
Green Green List (high evidence)	CC2D2A	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CLDN1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COG7	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 Green List (high evidence)	CYP27A1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CYP7B1	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 Green List (high evidence)	DCDC2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DGUOK	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 Green List (high evidence)	FAH	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	FOCAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Liver disease, severe congenital, MIM# 619991 Tags
Green Green List (high evidence)	GALM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes type IV galactosaemia Tags
Green Green List (high evidence)	GALT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galactosemia, MIM# 230400 Tags treatable
Green Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease Tags
Green Green List (high evidence)	GBE1	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 Green List (high evidence)	HNF1B	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 Green List (high evidence)	HSD3B7	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 Green List (high evidence)	JAG1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KIF12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic, 8, MIM# 619662 Tags
Green Green List (high evidence)	MPV17	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 Green List (high evidence)	MYO5B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cholestasis Microvillus inclusion disease, MIM#251850 Tags
Green Green List (high evidence)	NOTCH2	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 Green List (high evidence)	NPC1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NPC2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NPHP3	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 Green List (high evidence)	NR1H4	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 Green List (high evidence)	PEX1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PEX12	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PEX2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PEX26	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PEX6	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PKHD1	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 Green List (high evidence)	SERPINA1	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 Green List (high evidence)	SLC25A13	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TALDO1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TJP2	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 Green List (high evidence)	TTC26	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 Green List (high evidence)	UGT1A1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	UNC45A	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 Green List (high evidence)	USP53	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 Green List (high evidence)	VIPAS39	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 Green List (high evidence)	VPS33B	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 Green List (high evidence)	VPS50	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 Green List (high evidence)	ZFYVE19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis Tags
Amber Amber List (moderate evidence)	CFTR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cystic fibrosis, MIM# 219700 Tags
Amber Amber List (moderate evidence)	DHCR7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome, MIM# 270400 Tags
Amber Amber List (moderate evidence)	IARS	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 Amber List (moderate evidence)	LARS	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 Amber List (moderate evidence)	LIPA	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 Amber List (moderate evidence)	LSR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes transient neonatal cholestasis intellectual disability short stature Tags
Amber Amber List (moderate evidence)	MMP15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cholestasis Congenital heart disease Tags
Amber Amber List (moderate evidence)	MPI	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 Amber List (moderate evidence)	PEX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 Tags
Amber Amber List (moderate evidence)	SEMA7A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874 Tags
Amber Amber List (moderate evidence)	TRMU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Liver failure, transient infantile, MIM# 613070 Tags
Red Red List (low evidence)	ABCG5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Sitosterolemia 2, MIM# 618666 Tags
Red Red List (low evidence)	ABCG8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Sitosterolemia 1, MIM# 210250 Tags
Red Red List (low evidence)	ARG1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Argininemia, MIM# 207800 Tags
Red Red List (low evidence)	HADHA	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 Red List (low evidence)	HAMP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 2B, MIM# 613313 Tags
Red Red List (low evidence)	HFE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hemochromatosis, MIM# 235200 Tags
Red Red List (low evidence)	HFE2	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 Red List (low evidence)	INVS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephronophthisis 2, infantile, MIM# 602088 Tags
Red Red List (low evidence)	MKS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Meckel syndrome 1, MIM# 249000 Tags
Red Red List (low evidence)	MVK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mevalonic aciduria, MIM# 610377 Tags
Red Red List (low evidence)	NPHP1	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 Red List (low evidence)	NPHP4	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 Red List (low evidence)	PEX10	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 Red List (low evidence)	PEX11B	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 Red List (low evidence)	PEX13	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 Red List (low evidence)	PEX16	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 Red List (low evidence)	PEX19	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 Red List (low evidence)	PEX3	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 Red List (low evidence)	PEX5	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 Red List (low evidence)	PEX7	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 Red List (low evidence)	POLG	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 Red List (low evidence)	PPM1F	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes sclerosing cholangitis short stature hypothyroidism abnormal tongue pigmentatio Tags
Red Red List (low evidence)	SLC27A5	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Disorder of bile acid metabolism Tags
Red Red List (low evidence)	SLC30A10	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 Red List (low evidence)	SLC40A1	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 Red List (low evidence)	SLC51A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cholestasis, progressive familial intrahepatic, 6, MIM# 619484 Tags
Red Red List (low evidence)	SLC51B	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 Red List (low evidence)	SMPD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease Tags
Red Red List (low evidence)	TFR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Haemochromatosis, type 3 (MIM#604250) Tags
Red Red List (low evidence)	TMEM216	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Meckel syndrome 2, MIM# 603194 Tags
Red Red List (low evidence)	WDR83OS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cholestasis Tags

Cholestasis (Version 0.240)

9 reviewers

95 Entities

78 reviewed, 53 green

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