Activity

Filter

Cancel
Date Panel Item Activity
6 actions
DDG2P v3.73 KCNJ8 Eleanor Williams Tag gene-checked tag was added to gene: KCNJ8.
DDG2P v3.73 KCNJ8 Eleanor Williams commented on gene: KCNJ8
DDG2P v3.12 KCNJ8 Achchuthan Shanmugasundram reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24700710, 24176758, 25275207; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 KCNJ8 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ8.
Mode of pathogenicity for gene KCNJ8 was changed from Other - please provide details in the comments to Other
Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 24700710; 24176758; 25275207
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.6 KCNJ8 Rebecca Foulger reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.5 KCNJ8 Rebecca Foulger gene: KCNJ8 was added
gene: KCNJ8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments