Genomics England
GMS Panels
Panels
Genes and Entities

ABCB4

ATP binding cassette subfamily B member 4
OMIM: 171060
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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