Hereditary Neuropathy - complex
Gene: AMACR
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
Gene: amacr has been classified as Green List (High Evidence).
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
Publications for gene: AMACR were set to
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