| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1305 | POLR3B | Zornitza Stark Marked gene: POLR3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1305 | POLR3B | Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1305 | POLR3B | Zornitza Stark Classified gene: POLR3B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1305 | POLR3B | Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1297 | POLR3B |
Ain Roesley gene: POLR3B was added gene: POLR3B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: POLR3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR3B were set to 33417887 Phenotypes for gene: POLR3B were set to ataxia, spasticity, and demyelinating neuropathy Penetrance for gene: POLR3B were set to unknown Review for gene: POLR3B was set to GREEN Added comment: 3/6 individuals with de novo missense presented with seizures Sources: Literature |
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