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Hereditary Spastic Paraplegia - paediatric v0.125 | EXOSC3 | Zornitza Stark Marked gene: EXOSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.125 | EXOSC3 | Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.125 | EXOSC3 | Zornitza Stark Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1b to Pontocerebellar hypoplasia, type 1b; Complicated hereditary spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.67 | EXOSC3 | Bryony Thompson reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25149867, 23975261; Phenotypes: Complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.0 | EXOSC3 |
Bryony Thompson gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 25149867; 23975261 Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b |