Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Genetic Epilepsy v0.2067 | HDAC8 | Zornitza Stark Marked gene: HDAC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2067 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2067 | HDAC8 | Zornitza Stark Classified gene: HDAC8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2067 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2066 | HDAC8 |
Zornitza Stark gene: HDAC8 was added gene: HDAC8 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, MIM# 300882 Review for gene: HDAC8 was set to AMBER Added comment: Seizures reported in 25% of individuals with CdL though what proportion of individuals with HDAC8-related disease have seizures is uncertain. Sources: Expert list |