Hereditary neuropathy or pain disorder
Gene: AMACR

AMACR (alpha-methylacyl-CoA racemase)
EnsemblGeneIds (GRCh38): ENSG00000242110
EnsemblGeneIds (GRCh37): ENSG00000242110
OMIM: 604489, Gene2Phenotype
AMACR is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.

Panel Version: 6.148

AMACR variants have been associated with Alpha-methylacyl-CoA racemase deficiency (OMIM:614307) and as definitive G2P gene for the same condition. There are numerous reports of NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) in unrelated cases of OMIM:614307 (PMID: 21576695;10655068;20821052;18032455;15249642).
Created: 22 Oct 2024, 4:14 p.m. | Last Modified: 22 Oct 2024, 4:14 p.m.

Panel Version: 5.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 22 Oct 2024, 4:14 p.m.
Last Modified: 22 Oct 2024, 4:14 p.m.
Panel version: 6.148

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

multipel reports with peripheral neuropathy
Sources: Expert list
Created: 14 Oct 2024, 8:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cerebellar ataxia; peripheral neuropathy; seizures; cataracts; retinitis pigmentosa

Publications

Created: 14 Oct 2024, 8:40 p.m.

Panel version: 5.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Alpha-methylacyl-CoA racemase deficiency, OMIM:614307
alpha-methylacyl-CoA racemase deficiency, MONDO:0013681

OMIM

604489

Clinvar variants

Variants in AMACR

Penetrance

Complete

Publications

Panels with this gene