Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Ataxia - paediatric v0.77 THG1L Zornitza Stark Marked gene: THG1L as ready
Ataxia - paediatric v0.77 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Ataxia - paediatric v0.77 THG1L Zornitza Stark Publications for gene: THG1L were set to
Ataxia - paediatric v0.76 THG1L Zornitza Stark reviewed gene: THG1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27307223, 30214071, 31168944; Phenotypes: Cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.0 THG1L Bryony Thompson gene: THG1L was added
gene: THG1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THG1L were set to Cerebellar ataxia with developmental delay