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Genetic Epilepsy v0.413 | PAK1 | Zornitza Stark Marked gene: PAK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.413 | PAK1 | Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.413 | PAK1 | Zornitza Stark Classified gene: PAK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.413 | PAK1 | Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.412 | PAK1 |
Zornitza Stark gene: PAK1 was added gene: PAK1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK1 were set to 30290153; 31504246 Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Review for gene: PAK1 was set to GREEN gene: PAK1 was marked as current diagnostic Added comment: Six unrelated individuals with de novo variants int his gene reported. Sources: Expert list |