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Ataxia - adult onset v0.64 | STUB1 | Zornitza Stark Marked gene: STUB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.64 | STUB1 | Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.64 | STUB1 | Zornitza Stark Phenotypes for gene: STUB1 were changed from Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16 to Spinocerebellar ataxia 48, MIM#618093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.63 | STUB1 | Zornitza Stark Publications for gene: STUB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.62 | STUB1 | Zornitza Stark Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.61 | STUB1 | Teresa Zhao reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32337344, PMID: 30381368, PMID: 31126790; Phenotypes: Spinocerebellar ataxia 48, MIM#618093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.0 | STUB1 |
Bryony Thompson gene: STUB1 was added gene: STUB1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STUB1 were set to Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16 |