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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