Genomics England
GMS Panels
Panels
Genes and Entities

ATP8B1

ATPase phospholipid transporting 8B1
OMIM: 602397
PanelMode of inheritanceDetails
3 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Familial Intrahepatic Cholestasis, Cholestasis, intrahepatic, of pregnancy, 1, 147480, Cholestasis, Progressive Familial Intrahepatic 1, Cholestasis, benign recurrent intrahepatic, 243300, Cholestasis, progressive familial intrahepatic 1, 211600, Neonatal and Adult Cholestasis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600
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
Cholestasis, progressive familial intrahepatic 1 211600, Cholestasis, benign recurrent intrahepatic 243300 AR, Cholestasis, intrahepatic, of pregnancy, 1 147480 AD, Byler disease (Disorders of bile acid metabolism and transport)