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| Genetic Epilepsy v0.1123 | PPP2R1A | Zornitza Stark Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1122 | PPP2R1A | Zornitza Stark Marked gene: PPP2R1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1122 | PPP2R1A | Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1122 | PPP2R1A | Zornitza Stark Classified gene: PPP2R1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1122 | PPP2R1A | Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1121 | PPP2R1A |
Elena Savva gene: PPP2R1A was added gene: PPP2R1A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R1A were set to PMID: 33106617; 26168268 Phenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362 Mode of pathogenicity for gene: PPP2R1A was set to Other Review for gene: PPP2R1A was set to GREEN Added comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617). 10/26 patients were reported with epilepsy, interestingly none also presented with macrocephaly (otherwise observed in 38% of the cohort) Sources: Literature |
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