| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.136 | PAK1 | Elena Savva Classified gene: PAK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.136 | PAK1 | Elena Savva Gene: pak1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.135 | PAK1 | Elena Savva Marked gene: PAK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.135 | PAK1 | Elena Savva Gene: pak1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.135 | PAK1 |
Lauren Rogers changed review comment from: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder Sources: Literature; to: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder. All missense variants Sources: Literature |
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| Macrocephaly_Megalencephaly v0.135 | PAK1 |
Lauren Rogers gene: PAK1 was added gene: PAK1 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK1 were set to 37820543 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 Added comment: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder Sources: Literature |
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