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Ataxia - paediatric v0.61 | UBA5 | Zornitza Stark Marked gene: UBA5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.61 | UBA5 | Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.61 | UBA5 | Zornitza Stark Classified gene: UBA5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.61 | UBA5 | Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.60 | UBA5 | Zornitza Stark reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 26872069, 27545681, 27545674; Phenotypes: Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133, Epileptic encephalopathy, early infantile, 44 617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.0 | UBA5 |
Bryony Thompson gene: UBA5 was added gene: UBA5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA5 were set to 26872069; 29902590 Phenotypes for gene: UBA5 were set to ?Autosomal recessive spinocerebellar ataxia 24, 617133; Early infantile epileptic encephalopathy 44, 617132 |