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| Genetic Epilepsy v0.1834 | AGO1 | Zornitza Stark Phenotypes for gene: AGO1 were changed from Neurodevelopmental disorder MONDO:0700092, AGO1-related; non-syndromic ID and seizures to Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1833 | AGO1 | Zornitza Stark edited their review of gene: AGO1: Changed phenotypes: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1451 | AGO1 | Zornitza Stark Marked gene: AGO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1451 | AGO1 | Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1451 | AGO1 | Zornitza Stark Phenotypes for gene: AGO1 were changed from focal epilepsy; intellectual disability; global developmental delay to Neurodevelopmental disorder MONDO:0700092, AGO1-related; non-syndromic ID and seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1450 | AGO1 | Zornitza Stark Classified gene: AGO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1450 | AGO1 | Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1449 | AGO1 | Zornitza Stark reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, AGO1-related, non-syndromic ID and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1449 | AGO1 |
Krithika Murali changed review comment from: PMID 35060114 Niu et al 2022 - 4 additional individuals reported with ID/GDD associated with heterozygous de novo AGO1 variants. Authors provide a review of 14 individuals reported in the literature. 5 out of 14 from 3 different studies noted to have epilepsy, predominantly focal seizures. Sources: Literature; to: PMID 35060114 Niu et al 2022 - 4 additional individuals reported with ID/GDD associated with heterozygous de novo AGO1 variants. Authors provide a review of the 18 individuals reported in the literature. 5 out of 18 from 3 different studies noted to have epilepsy, predominantly focal seizures. Sources: Literature |
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| Genetic Epilepsy v0.1449 | AGO1 |
Krithika Murali gene: AGO1 was added gene: AGO1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AGO1 were set to 35060114; 30213762; 25356899 Phenotypes for gene: AGO1 were set to focal epilepsy; intellectual disability; global developmental delay Review for gene: AGO1 was set to GREEN Added comment: PMID 35060114 Niu et al 2022 - 4 additional individuals reported with ID/GDD associated with heterozygous de novo AGO1 variants. Authors provide a review of 14 individuals reported in the literature. 5 out of 14 from 3 different studies noted to have epilepsy, predominantly focal seizures. Sources: Literature |
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