Retinal disordersGene: AMACR
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
Only three reported mutations to our knowledge:
c.154T>C; p.Ser52Pro (most common)
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.
Created: 31 Mar 2021, 9:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Tag Q2_21_rating was removed from gene: AMACR. Tag Q2_21_NHS_review was removed from gene: AMACR.
Source Expert Review Green was added to AMACR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: amacr has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: AMACR. Tag Q2_21_NHS_review tag was added to gene: AMACR.
Phenotypes for gene: AMACR were changed from Retinitis pigmentosa to Retinitis pigmentosa, MONDO:0019200; Alpha-methylacyl-CoA racemase deficiency, OMIM:614307
Publications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897
gene: AMACR was added gene: AMACR was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897 Phenotypes for gene: AMACR were set to Retinitis pigmentosa Penetrance for gene: AMACR were set to Complete Mode of pathogenicity for gene: AMACR was set to Other Review for gene: AMACR was set to GREEN