Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Skeletal dysplasia v0.3 DNMT3A Sue White reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070, 30478443; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.0 DNMT3A Zornitza Stark gene: DNMT3A was added
gene: DNMT3A was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNMT3A were set to Tatton-Brown-Rahman syndrome 615879