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| Ataxia - adult onset v0.172 | SEPSECS | Bryony Thompson Marked gene: SEPSECS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.172 | SEPSECS | Bryony Thompson Gene: sepsecs has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.11 | SEPSECS |
Bryony Thompson gene: SEPSECS was added gene: SEPSECS was added to Ataxia - adult onset_RMH. Sources: Expert list Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to 29464431 Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment Review for gene: SEPSECS was set to RED Added comment: Ataxia not a prominent feature of the phenotype. A single report of a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, with a homozygous missense mutation. Sources: Expert list |
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