UGT1A1

UDP glucuronosyltransferase family 1 member A1
OMIM: 191740
PanelMode of inheritanceDetails
3 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
[Gilbert syndrome] 143500, Crigler-Najjar syndrome, type I 218800, Neonatal and Adult Cholestasis, Crigler-Najjar syndrome, type II 606785, unconjugated jaundice
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRIGLER-NAJJAR SYNDROME, TYPE I 218800
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Crigler-Najjar syndrome, type I 218800, Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport), Crigler-Najjar syndrome, type II 606785