Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 NUP214 Achchuthan Shanmugasundram reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128; Phenotypes: Acute Febrile Encephalopathy, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 NUP214 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP214.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.130 NUP214 Rebecca Foulger reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.129 NUP214 Rebecca Foulger gene: NUP214 was added
gene: NUP214 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to Acute Febrile Encephalopathy 618426