Genomics England
GMS Panels
Panels
Genes and Entities

UGT1A1

UDP glucuronosyltransferase family 1 member A1
OMIM: 191740
PanelMode of inheritanceDetails
3 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRIGLER-NAJJAR SYNDROME, TYPE I 218800
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 4.0
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