Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |