| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1976 | ASPM | Zornitza Stark Marked gene: ASPM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1976 | ASPM | Zornitza Stark Gene: aspm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1976 | ASPM | Zornitza Stark Classified gene: ASPM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1976 | ASPM | Zornitza Stark Gene: aspm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1975 | ASPM | Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary autosomal recessive Microcephaly 5 - OMIM #608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1975 | ASPM |
John Coleman gene: ASPM was added gene: ASPM was added to Genetic Epilepsy. Sources: Expert Review,Literature,ClinGen Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPM were set to (PMID:32239881; 19770472; 18452193; 16141009) Phenotypes for gene: ASPM were set to Primary autosomal recessive Microcephaly 5 - OMIM #608716 Added comment: Known microcephaly gene (AR). Seizures reported in around 15% of cases (GENEREVIEWS). Seizures reported on OMIM. Clingen curated seizures is a feature of this gene. Primary feature microcephaly. Various seizure types focal or tonic and tonic-clonic generalized seizures have been reported. 3 of 18 patients in a neurology cohort with later onset seizures PMID 19770472, another case of a female age 5 with 2 seizures, not needing treatment PMID 18452193, and a third publication with 2 of 3 affected family members with seizure phenotype tonic clonic/ clonic PMID 16141009. Sources: Expert Review, Literature, ClinGen |
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