Retinal disorders
Gene: AMACR

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

2 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:43 a.m. | Last Modified: 8 Mar 2022, 10:43 a.m.

Panel Version: 2.245

Comment on list classification: New gene added by Hannah Knight (Moorfields Eye Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 12 Apr 2021, 2:11 p.m. | Last Modified: 12 Apr 2021, 2:11 p.m.

Panel Version: 2.177

Created: 12 Apr 2021, 2:11 p.m.
Last Modified: 8 Mar 2022, 10:46 a.m.
Panel version: 2.245

Hannah Knight (Moorfields Eye Hospital)

Green List (high evidence)

Only three reported mutations to our knowledge:
c.154T>C; p.Ser52Pro (most common)
c.367G>A; p.Asp123Asn
c.559G>A; p.Gly187Arg

For some patients, the retinal disorder can be the first manifestation of the condition, prior to developing neurological symptoms. We believe this gene should be on the retinal disorders panel to enable a quicker diagnosis and pre-emptive referrals to neurology.
Sources: Literature
Created: 31 Mar 2021, 9:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa

Publications

Mode of pathogenicity
Other

Created: 31 Mar 2021, 9:37 a.m.

Panel version: 2.172

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Retinitis pigmentosa, MONDO:0019200
Alpha-methylacyl-CoA racemase deficiency, OMIM:614307

OMIM

604489

Clinvar variants

Variants in AMACR

Penetrance

Complete

Publications

Mode of Pathogenicity

Other

Panels with this gene