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DDG2P v3.12 | AKT3 | Achchuthan Shanmugasundram reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22500628, 22729224; Phenotypes: HEMIMEGALENCEPHALY AKT3, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | AKT3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AKT3. Mode of pathogenicity for gene AKT3 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 v0.3 | AKT3 | Rebecca Foulger commented on gene: AKT3: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for HEMIMEGALENCEPHALY AKT3 603387. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.3 | AKT3 | Rebecca Foulger Tag mosaicism tag was added to gene: AKT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | AKT3 | Rebecca Foulger reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | AKT3 |
Rebecca Foulger gene: AKT3 was added gene: AKT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT3 were set to 22500628; 22729224 Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 603387 Mode of pathogenicity for gene: AKT3 was set to Other - please provide details in the comments |