AMACR

alpha-methylacyl-CoA racemase
OMIM: 604489
PanelMode of inheritanceDetails
4 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal and Adult Cholestasis, Bile acid synthesis defect, congenital, 4 214950
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-methylacyl-CoA racemase deficiency, 614307
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, MONDO:0019200, Alpha-methylacyl-CoA racemase deficiency, OMIM:614307