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Genetic Epilepsy v0.2250 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Genetic Epilepsy v0.2250 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2250 PPP2R5D Zornitza Stark Publications for gene: PPP2R5D were set to
Genetic Epilepsy v0.2249 PPP2R5D Zornitza Stark Classified gene: PPP2R5D as Green List (high evidence)
Genetic Epilepsy v0.2249 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2149 PPP2R5D Chris Ciotta reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26168268, 29296277, 26576547; Phenotypes: Houge-Janssens syndrome 1 MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2149 PPP2R5D Chris Ciotta Deleted their review
Genetic Epilepsy v0.2149 PPP2R5D Chris Ciotta gene: PPP2R5D was added
gene: PPP2R5D was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP2R5D were set to Houge-Janssens syndrome 1 MIM#616355
Review for gene: PPP2R5D was set to GREEN
Added comment: - PMID:26168268, 3/11 individuals with intellectual disability also presented with epilepsy, In these three individuals two had the commonly reported pathogenic Glu198Lys variant while the third had another very well reported Glu200Lys variant.

- PMID:29296277, 2/2 individuals in this study with variants in PPP2R5D with epilepsy. Both individuals had the Glu198Lys variant.

- PMID: 26576547, 1/7 individuals with variants in this gene presented with complex partial seizures, this individual also had the Glu198Lys well reported variant.
Sources: Literature