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Genetic Epilepsy

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

John Coleman (Murdoch Children's Research Institute)

Green List (high evidence)

Autosomal recessive affecting AMACR enzyme which is active in the mitochondrial & peroxisome. AMACR deficiency and Congenital Bile Acid Synthesis Defect 4 are distinctive phenotypes. Epilepsy a feature of AMACR deficiency on OMIM. AMACR deficiency reported in adults with later onset tonic clonic seizures in a 58 year old male, also had cerebellar features. Second case of female in her 70s with lacosamide responsive seizures and other neurological manifestations. Case series (Thompson et al 2009) - 44 year old male seizures onset at age 18, 52 year old female seizure onset 50s, and 57 y/o female tonic clonic seizures onset at age 13. Variable condition.
Sources: Literature, Expert Review
Created: 5 Dec 2023, 12:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY - 614307

Publications

History Filter Activity

6 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMACR were changed from ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY MIM#614307 to Alpha-methylacyl-CoA racemase deficiency, MIM# 614307

5 Dec 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency (MIM#614307) to ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY MIM#614307

5 Dec 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: AMACR were changed from ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY - 614307 to Alpha-methylacyl-CoA racemase deficiency (MIM#614307)

5 Dec 2023, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: AMACR were set to (PMID:35428665; 21576695; 11060344; 21686617

5 Dec 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).

5 Dec 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).

5 Dec 2023, Gel status: 0

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

John Coleman (Murdoch Children's Research Institute)

gene: AMACR was added gene: AMACR was added to Genetic Epilepsy. Sources: Literature,Expert Review Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to (PMID:35428665; 21576695; 11060344; 21686617 Phenotypes for gene: AMACR were set to ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY - 614307 Penetrance for gene: AMACR were set to unknown Review for gene: AMACR was set to GREEN