| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2171 | DHX16 | Zornitza Stark Marked gene: DHX16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2171 | DHX16 | Zornitza Stark Gene: dhx16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2171 | DHX16 | Zornitza Stark Classified gene: DHX16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2171 | DHX16 | Zornitza Stark Gene: dhx16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2149 | DHX16 |
Andrew Fennell gene: DHX16 was added gene: DHX16 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX16 were set to PMID: 31256877; 36211162 Phenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733 Review for gene: DHX16 was set to GREEN Added comment: PMID: 31256877 - two of the four reported individuals had seizures (infantile spasms in one & GTC in one) PMID: 36211162 - single case report of an 18-month old child with infantile spasms, likely for several months prior to presentation. Sources: Literature |
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