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| Ataxia - adult onset v0.12 | TSEN54 |
Bryony Thompson gene: TSEN54 was added gene: TSEN54 was added to Ataxia - adult onset_RMH. Sources: Expert list Mode of inheritance for gene: TSEN54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSEN54 were set to 24938831 Phenotypes for gene: TSEN54 were set to adult-onset cerebellar ataxia Review for gene: TSEN54 was set to RED Added comment: One family with adult-onset hereditary ataxia reported to segregate a heterozygous missense variant in this gene. Biallelic variants are associated with various forms of pontocerebellar hyploplasia where affected individuals do not live past childhood. Sources: Expert list |
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