Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Ataxia - paediatric v0.191 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Ataxia - paediatric v0.191 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.0 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694