Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Skeletal dysplasia v1.153 IFT140 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 for gene: IFT140
Skeletal dysplasia v1.147 IFT140 Tracy Lester reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia 9 with of without polydactyly, 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.146 IFT140 Eleanor Williams reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 IFT140 Eleanor Williams Source NHS GMS was added to IFT140.
Rating Changed from Green List (high evidence) to Green List (high evidence)