ABCB4

ATP binding cassette subfamily B member 4
OMIM: 171060, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ABCB4 in Cholestasis Level 2: Gastroenterological disorders Version 2.0	2 reviews	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 2.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Progressive familial intrahepatic cholestasis type 3, MONDO:0011214 Cholestasis, intrahepatic, of pregnancy, 3 MIM#614972 disorder of bile acid metabolism Gallbladder disease 1 (MIM#600803) Tags SV/CNV
Green ABCB4 in Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Version 1.0	0 reviews	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 1.0	0 reviews	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 1.0	0 reviews	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Progressive familial intrahepatic cholestasis type 3, MONDO:0011214
Green ABCB4 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Progressive familial intrahepatic cholestasis type 3, MONDO:0011214
Green ABCB4 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347
Red ABCB4 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 3, 602347 (3)