Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 PIK3R2 Achchuthan Shanmugasundram reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26860062, 22729224; Phenotypes: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 PIK3R2 Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3R2 was changed from Other - please provide details in the comments to Other
DDG2P v0.2 PIK3R2 Rebecca Foulger reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 PIK3R2 Rebecca Foulger gene: PIK3R2 was added
gene: PIK3R2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3R2 were set to 26860062; 22729224
Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387
Mode of pathogenicity for gene: PIK3R2 was set to Other - please provide details in the comments