Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Skeletal dysplasia v1.153 HNRNPK Eleanor Williams Added phenotypes Au-Kline syndrome:616580; Orphanet:453499 for gene: HNRNPK
Publications for gene HNRNPK were changed from 26173930; 26954065; 26638989 to 26173930; 26638989; 26954065
Skeletal dysplasia v1.147 HNRNPK Tracy Lester reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: 26173930, 26954065, 26638989; Phenotypes: Au-Kline syndrome:616580, Orphanet:453499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.146 HNRNPK Eleanor Williams reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 HNRNPK Eleanor Williams Source NHS GMS was added to HNRNPK.
Skeletal dysplasia HNRNPK Ellen McDonagh classified HNRNPK as amber
Skeletal dysplasia HNRNPK Ellen McDonagh classified HNRNPK as amber
Skeletal dysplasia HNRNPK Ellen McDonagh added HNRNPK to panel
Skeletal dysplasia HNRNPK Ellen McDonagh reviewed HNRNPK