ABCB4

ATP binding cassette subfamily B member 4
OMIM: 171060, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ABCB4 in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	review	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)
Green ABCB4 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347 disorder of bile acid metabolism Gallbladder disease 1 (MIM#600803)
Green ABCB4 in Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Version 0.17 Component of the following Super Panels: Liverome Superpanel Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of bile acid metabolism progressive familial intrahepatic cholestasis type 3 MONDO:0011214
Green ABCB4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Green ABCB4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 3
Green ABCB4 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis, progressive familial intrahepatic 3, MIM# 602347
Green ABCB4 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347 disorder of bile acid metabolism
Green ABCB4 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Red ABCB4 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene 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)
Green ABCB4 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 3, 602347 (3)