Genomics England
GMS Panels
Panels
Genes and Entities

AMACR

alpha-methylacyl-CoA racemase
OMIM: 604489
PanelMode of inheritanceDetails
5 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 4.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal and Adult Cholestasis, Bile acid synthesis defect, congenital, 4 214950
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-methylacyl-CoA racemase deficiency, 614307
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-methylacyl-CoA racemase deficiency, OMIM:614307, alpha-methylacyl-CoA racemase deficiency, MONDO:0013681
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, MONDO:0019200, Alpha-methylacyl-CoA racemase deficiency, OMIM:614307