Activity

Filter

Cancel
Date Panel Item Activity
1 action
Skeletal dysplasia v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600; RAPILINO syndrome 266280