Hereditary Neuropathy - complex
Gene: AMACREnsemblGeneIds (GRCh38): ENSG00000242110
EnsemblGeneIds (GRCh37): ENSG00000242110
OMIM: 604489, Gene2Phenotype
AMACR is in 13 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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
-
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Rhabdomyolysis and Metabolic Myopathy
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Cholestasis
- Liver Failure_Paediatric
- Hereditary Neuropathy - complex
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Genetic Epilepsy
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: amacr has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AMACR were set to
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