Activity

Filter

Cancel
Date Panel Item Activity
6 actions
DDG2P v3.12 GNAQ Achchuthan Shanmugasundram reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058448; Phenotypes: Congenital Hemangioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 GNAQ Achchuthan Shanmugasundram Source Expert Review Green was added to GNAQ.
Mode of pathogenicity for gene GNAQ was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.3 GNAQ Rebecca Foulger commented on gene: GNAQ: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital Hemangioma.
DDG2P v0.3 GNAQ Rebecca Foulger Tag mosaicism tag was added to gene: GNAQ.
DDG2P v0.2 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAQ were set to 27058448
Phenotypes for gene: GNAQ were set to Congenital Hemangioma
Mode of pathogenicity for gene: GNAQ was set to Other - please provide details in the comments