| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1252 | BPTF | Zornitza Stark Marked gene: BPTF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1252 | BPTF | Zornitza Stark Gene: bptf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1252 | BPTF | Zornitza Stark Classified gene: BPTF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1252 | BPTF | Zornitza Stark Gene: bptf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1251 | BPTF |
Zornitza Stark gene: BPTF was added gene: BPTF was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BPTF were set to 33522091; 28942966 Phenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Review for gene: BPTF was set to GREEN Added comment: Over 30 individuals reported, mostly de novo, some inherited variants. Reported features include seizures. Sources: Literature |
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