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| Ataxia - paediatric v0.27 | EXOSC3 | Bryony Thompson Marked gene: EXOSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.27 | EXOSC3 | Bryony Thompson Gene: exosc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.27 | EXOSC3 |
Bryony Thompson changed review comment from: Ataxia is not a prominent feature of the phenotype Sources: Expert list; to: Ataxia is not a prominent feature of the phenotype Sources: Expert list |
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| Ataxia - paediatric v0.27 | EXOSC3 |
Bryony Thompson gene: EXOSC3 was added gene: EXOSC3 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 Added comment: Ataxia is not a prominent feature of the phenotype Sources: Expert list |
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