Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 IFT122 Achchuthan Shanmugasundram reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17022080, 19760620, 20493458; Phenotypes: CRANIOECTODERMAL DYSPLASIA, OMIM:218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 IFT122 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT122 was changed from Other - please provide details in the comments to Other
Publications for gene: IFT122 were updated from 19760620; 17022080; 20493458 to 17022080; 19760620; 20493458
DDG2P v0.2 IFT122 Rebecca Foulger reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 IFT122 Rebecca Foulger gene: IFT122 was added
gene: IFT122 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT122 were set to 19760620; 17022080; 20493458
Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA 218330
Mode of pathogenicity for gene: IFT122 was set to Other - please provide details in the comments