| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1449 | EEF1B2 | Zornitza Stark Marked gene: EEF1B2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1449 | EEF1B2 | Zornitza Stark Gene: eef1b2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1449 | EEF1B2 | Zornitza Stark Classified gene: EEF1B2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1449 | EEF1B2 | Zornitza Stark Gene: eef1b2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1448 | EEF1B2 |
Zornitza Stark gene: EEF1B2 was added gene: EEF1B2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EEF1B2 were set to 31845318; 21937992; 35015920 Phenotypes for gene: EEF1B2 were set to Neurodevelopmental disorder MONDO:0700092; non-syndromic ID and seizures Review for gene: EEF1B2 was set to GREEN Added comment: Now 7 individuals in 3 unrelated families with a phenotype of non-syndromic ID and fever-sensitive seizures. Knockout zebrafish model demonstrated abnormal development and a photosensitive seizure-like behavioural phenotype. Sources: Literature |
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