| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.944 | H3F3A | Zornitza Stark Marked gene: H3F3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.944 | H3F3A | Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.944 | H3F3A | Zornitza Stark Classified gene: H3F3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.944 | H3F3A | Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.943 | H3F3A |
Zornitza Stark gene: H3F3A was added gene: H3F3A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: H3F3A were set to 33268356 Phenotypes for gene: H3F3A were set to Intellectual disability; regression; seizures Review for gene: H3F3A was set to GREEN Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%. Sources: Literature |
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