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. 2022 Jul 25;13:920390. doi: 10.3389/fgene.2022.920390

TABLE 2.

Trinucleotide repeat disorders with varying penetrance depending on the number of repeats present.

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