Genomics England
GMS Panels
Panels
Genes and Entities

AKR1D1

aldo-keto reductase family 1 member D1
OMIM: 604741
PanelMode of inheritanceDetails
3 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bile acid synthesis defect, congenital, 2 235555, fat soluble vitamin deficiency, liver failure, bile salt synthesis defect, Bile acid synthesis defect, congenital, 2, Neonatal and Adult Cholestasis, cholestasis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis), Bile acid synthesis defect, congenital, 2 235555