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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. AMACR
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: AMACR

Green List (high evidence)
AMACR (alpha-methylacyl-CoA racemase)
EnsemblGeneIds (GRCh38): ENSG00000242110
EnsemblGeneIds (GRCh37): ENSG00000242110
OMIM: 604489, Gene2Phenotype
AMACR is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Pigmentary retinopathy can be a presenting feature.
Sources: Expert Review
Created: 4 Apr 2021, 4:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpha-methylacyl-CoA racemase deficiency, MIM# 614307

Publications

Created: 4 Apr 2021, 4:47 a.m.

Panel version: 0.87

History Filter Activity

4 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amacr has been classified as Green List (High Evidence).

4 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amacr has been classified as Green List (High Evidence).

4 Apr 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AMACR was added gene: AMACR was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 21686617; 20821052; 11861706; 10655068; 15249642; 23286897 Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Review for gene: AMACR was set to GREEN