ABCB4

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

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ABCB4 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis Cholestasis, intrahepatic, of pregnancy, 3, 614972 Cholestasis, progressive familial intrahepatic 3, 602347 Cholestasis, Progressive Familial Intrahepatic 3 Familial Intrahepatic Cholestasis Progressive Familial Intrahepatic Cholestasis cholelithiasis gallstones modifier in other forms of genetic cholestasis PFIC PFIC3
Green ABCB4 in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Progressive Familial Intrahepatic Cholestasis modifier in other forms of genetic cholestasis Familial Intrahepatic Cholestasis gallstones cholelithiasis PFIC PFIC3 Cholestasis, progressive familial intrahepatic 3, 602347 Cholestasis, intrahepatic, of pregnancy, 3, 614972 Neonatal and Adult Cholestasis Cholestasis, Progressive Familial Intrahepatic 3
Green ABCB4 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport) Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR Cholestasis, progressive familial intrahepatic 3 602347 AR Gallbladder disease 1 600803 AD, AR
Green ABCB4 in Likely inborn error of metabolism Level 2: Metabolic Version 8.98 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Gallbladder disease 1 600803 AD, AR Cholestasis, progressive familial intrahepatic 3 602347 AR Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport) Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
Red ABCB4 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH