Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Leukodystrophy - adult onset v0.37 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Leukodystrophy - adult onset v0.37 RNF216 Zornitza Stark Gene: rnf216 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.21 RNF216 Bryony Thompson reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: None; Publications: 28334938, 26250479; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.0 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 28334938; 26250479
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840