| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.424 | PPP2CA | Zornitza Stark Marked gene: PPP2CA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.424 | PPP2CA | Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.424 | PPP2CA | Zornitza Stark Classified gene: PPP2CA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.424 | PPP2CA | Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.423 | PPP2CA |
Zornitza Stark gene: PPP2CA was added gene: PPP2CA was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2CA were set to 30595372 Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354 Review for gene: PPP2CA was set to GREEN gene: PPP2CA was marked as current diagnostic Added comment: 16 individuals with heterozygous pathogenic PPP2CA variants. Frequent features included feeding difficulties, hypotonia, developmental delay (16/16) with intellectual disability. Seizures are seen in 9 of 16 individuals. Sources: Expert list |
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