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  2. Rhabdomyolysis and Metabolic Myopathy
  3. AMACR
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Rhabdomyolysis and Metabolic Myopathy

Gene: AMACR

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association with bile acid synthesis defect: Intrahepatic cholestasis and liver failure in infancy, at least three families and mouse model.


Milder adult onset disorder primarily characterised by retinopathy and neuropathy also reported in 10 individuals.
Created: 30 Nov 2021, 1:45 a.m. | Last Modified: 30 Nov 2021, 1:45 a.m.
Panel Version: 0.9952

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 4, MIM# 214950; Alpha-methylacyl-CoA racemase deficiency, MIM# 614307

Publications

Created: 30 Nov 2021, 1:45 a.m.
Last Modified: 30 Nov 2021, 1:45 a.m.
Panel version: Imported from Mendeliome panel version 0.9952

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case with rahbdomyolysis reported, with a homozygous missense
Sources: Literature
Created: 29 May 2020, 2:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
rhabdomyolysis

Publications

Created: 29 May 2020, 2:18 a.m.

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • rhabdomyolysis
OMIM
604489
Clinvar variants
Variants in AMACR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amacr has been classified as Red List (Low Evidence).

29 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AMACR was added gene: AMACR was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 20921516 Phenotypes for gene: AMACR were set to rhabdomyolysis Review for gene: AMACR was set to RED