Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Pituitary hormone deficiency v0.0 POLR3A Seb Lunke gene: POLR3A was added
gene: POLR3A was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)