| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1971 | ACY1 | Zornitza Stark Marked gene: ACY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1971 | ACY1 | Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1971 | ACY1 | Zornitza Stark Phenotypes for gene: ACY1 were changed from Seizures; Epilepsy; Febrile Seizures to Aminoacylase 1 deficiency, MIM# 609924 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1970 | ACY1 | Zornitza Stark Classified gene: ACY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1970 | ACY1 | Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1950 | ACY1 | John Coleman edited their review of gene: ACY1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1950 | ACY1 |
John Coleman changed review comment from: Known ACY1 amino acid disorder with neurological phenotype. Seizures reported as a feature on OMIM. Phenotype includes seizures both febrile and afebrile. One paper with 3 families (1 German, 1 English and 1 Romani) with seizure phenotype. 2 other publications with seizure phenotype. Seizures reported strongly with intercurrent illness. Sources: Literature; to: Known ACY1 amino acid disorder with neurological phenotype. Seizures reported as a feature on OMIM. Phenotype includes seizures both febrile and afebrile. One paper with 3 families (1 German, 1 English and 1 Romani) with seizure phenotype. 2 other publications with seizure phenotype. Seizures reported strongly with intercurrent illness. Sources: Literature |
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| Genetic Epilepsy v0.1950 | ACY1 |
John Coleman gene: ACY1 was added gene: ACY1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to (PMID: 16465618,16274666, 24117009) Phenotypes for gene: ACY1 were set to Seizures; Epilepsy; Febrile Seizures Penetrance for gene: ACY1 were set to unknown Added comment: Known ACY1 amino acid disorder with neurological phenotype. Seizures reported as a feature on OMIM. Phenotype includes seizures both febrile and afebrile. One paper with 3 families (1 German, 1 English and 1 Romani) with seizure phenotype. 2 other publications with seizure phenotype. Seizures reported strongly with intercurrent illness. Sources: Literature |
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