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| Macrocephaly_Megalencephaly v0.79 | PPP2R1A |
Elena Savva gene: PPP2R1A was added gene: PPP2R1A was added to Macrocephaly_Megalencephaly. 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). 11/29 patients were macrocephalic, conversely 7/29 patients were microcephalic. All variants were in the same region and all were missense. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IDS was set to Unknown |
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