TABLE 2.
Disease | Gene | STR | Non-penetrant | Intermediate penetrance | Full penetrance |
---|---|---|---|---|---|
Spinocerebellar ataxia 8 | ATXN8OS/ATXN8 (Perez et al., 2021) | CTG/CAG | <91 | 92–106 | >107 |
Spinal muscular atrophy | SNM1 (Laskaratos et al., 2021) | CAG | <34 | 35–46 | >47 |
Fragile X | FMR1 (Hagerman et al., 2017) | CGG | <44 | 45–200 | >200 |
Huntington’s | HTT (Kay et al., 2016) | CAG | <36 | 37–39 | >40 |
ALS | C9orf72 (DeJesus-Hernandez et al., 2011) | GGGGCC | <23 | 24+ | >700 |
Friedrich’s Ataxia | FXN (Kim et al., 2011) | GAA | <34 | 35–99 | >100 |