Peroxisomal disorders
Gene: AMACR

AMACR (alpha-methylacyl-CoA racemase)
EnsemblGeneIds (GRCh38): ENSG00000242110
EnsemblGeneIds (GRCh37): ENSG00000242110
OMIM: 604489, Gene2Phenotype
AMACR is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. One variant reported in at least six unrelated individuals
Created: 22 Aug 2016, 9:34 a.m.

Comment on phenotypes: Also associated with Bile acid synthesis defect, congenital, 4 214950
Created: 22 Aug 2016, 9:24 a.m.

Created: 22 Aug 2016, 9:24 a.m.

Panel version: 0.28

Helen Savage (Congenica Ltd)

Green List (high evidence)

Common mutation p.Ser52Pro.
Created: 23 Feb 2016, 2:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpha-methylacyl-CoA racemase deficiency

Publications

Created: 23 Feb 2016, 2:43 p.m.

Panel version: Imported from "Other peroxisomal disorders" panel version 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Alpha-methylacyl-CoA racemase deficiency 614307

OMIM

604489

Clinvar variants

Variants in AMACR

Penetrance

Complete

Publications

Panels with this gene