Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Skeletal dysplasia v2.206 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
Skeletal dysplasia v2.206 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
Skeletal dysplasia v1.153 IMPAD1 Eleanor Williams Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type 614078 for gene: IMPAD1
Skeletal dysplasia v1.147 IMPAD1 Tracy Lester reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type 614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.146 IMPAD1 Eleanor Williams reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 IMPAD1 Eleanor Williams Source NHS GMS was added to IMPAD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)