| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1996 | AMACR | Zornitza Stark Phenotypes for gene: AMACR were changed from ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY MIM#614307 to Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1994 | AMACR | Elena Savva Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency (MIM#614307) to ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY MIM#614307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1993 | AMACR | Elena Savva Phenotypes for gene: AMACR were changed from ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY - 614307 to Alpha-methylacyl-CoA racemase deficiency (MIM#614307) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1992 | AMACR | Elena Savva Publications for gene: AMACR were set to (PMID:35428665; 21576695; 11060344; 21686617 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1982 | AMACR | Zornitza Stark Marked gene: AMACR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1982 | AMACR | Zornitza Stark Gene: amacr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1982 | AMACR | Zornitza Stark Classified gene: AMACR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1982 | AMACR | Zornitza Stark Gene: amacr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1975 | AMACR |
John Coleman 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 Added comment: 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 |
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