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| Ataxia - paediatric v0.169 | RARS2 | Zornitza Stark Marked gene: RARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.169 | RARS2 | Zornitza Stark Gene: rars2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.169 | RARS2 | Zornitza Stark Publications for gene: RARS2 were set to 31429931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.168 | RARS2 | Zornitza Stark reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: None; Publications: 17847012, 25809939, 20635367; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.35 | RARS2 |
Bryony Thompson gene: RARS2 was added gene: RARS2 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS2 were set to 31429931 Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia Review for gene: RARS2 was set to RED Added comment: Ataxia is not a prominent feature of PCH. A homozygous putative pathogenic variant has been identified in one family with early onset cerebellar ataxia. Sources: Expert list |
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