Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 NHP2 Achchuthan Shanmugasundram reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18523010; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 NHP2 Achchuthan Shanmugasundram Source Expert Review Green was added to NHP2.
Mode of pathogenicity for gene NHP2 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 v0.2 NHP2 Rebecca Foulger reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 NHP2 Rebecca Foulger gene: NHP2 was added
gene: NHP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHP2 were set to 18523010
Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987
Mode of pathogenicity for gene: NHP2 was set to Other - please provide details in the comments