Activity

Filter

Cancel
Date Panel Item Activity
5 actions
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