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| Ataxia and cerebellar anomalies - narrow panel v8.71 | TRMT5 |
Ida Ertmanska gene: TRMT5 was added gene: TRMT5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to 35342985 Phenotypes for gene: TRMT5 were set to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 Review for gene: TRMT5 was set to RED Added comment: PMID: 35342985 Argente-Escrig et al., 2022 3 cases from apparently unrelated Southern European families with infantile onset demyelinating neuropathy. All compound het for the same TRMT5 variants: [c.312_315del; p.Ile105Serfs*4] and [c.665âTâ>âC; p.Ile222Thr]. The cerebellar ataxia was described as mild (gait disturbance). Neuropathy is the main presentation. Sources: Literature |
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