AMACR

alpha-methylacyl-CoA racemase
OMIM: 604489
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal and Adult Cholestasis, Bile acid synthesis defect, congenital, 4 214950
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
Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)