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| DDG2P v3.12 | PPP3CA | Achchuthan Shanmugasundram reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942967; Phenotypes: Severe Neurodevelopmental Disease with Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PPP3CA |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA. Mode of pathogenicity for gene PPP3CA was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PPP3CA | Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PPP3CA |
Rebecca Foulger gene: PPP3CA was added gene: PPP3CA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP3CA were set to 28942967 Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures Mode of pathogenicity for gene: PPP3CA was set to Other - please provide details in the comments |
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