Genomics England
GMS Panels
Panels
Genes and Entities

ABCB11

ATP binding cassette subfamily B member 11
OMIM: 603201
PanelMode of inheritanceDetails
3 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Familial Intrahepatic Cholestasis, Cholestasis, progressive familial intrahepatic 2, 601847, Cholestasis, Progressive Familial Intrahepatic 2, PFIC2, Cholestasis, benign recurrent intrahepatic, 2, 605479, Neonatal and Adult Cholestasis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847
Green
in Likely inborn error of metabolism
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport), Cholestasis, benign recurrent intrahepatic, 2 605479, Cholestasis, progressive familial intrahepatic 2 601847