Hereditary Neuropathy - complex

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

4 individuals from unrelated families with adult onset neuropathy phenotypes.
All individuals had the presence of a homozygous mutation in the AMACR gene.

PMID: 10655068
2 unrelated individuals with axonal sensorimotor neuropathy more severe in lower limbs compared to arms with conflicting metabolic investigations.
Both individuals had the same homozygous mutation which results in a complete loss of enzyme function.

PMID: 20821052
Male with adult onset neuropathy phenotypes and homozygous S52P mutation in the AMACR gene.

PMID:18032455
Female with complex neurological history in adulthood. Muscle biopsy showed myopathic changes and sequencing confirmed the presence of the homozygous mutation, p.S52P.
Created: 19 May 2023, 1:32 a.m. | Last Modified: 19 May 2023, 1:32 a.m.
Panel Version: 0.142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpha-methylacyl-CoA racemase deficiency (MIM#614307)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency (MIM#614307)
  • Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids
OMIM
604489
Clinvar variants
Variants in AMACR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2023, 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).

19 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMACR were changed from Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids to Alpha-methylacyl-CoA racemase deficiency (MIM#614307); Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids

19 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AMACR were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AMACR was added gene: AMACR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMACR were set to Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids