Table 1.
Currently known REDs
| Repeat unit | Gene and position of the repeat in the gene | Disease | Year of discovery | Highlight paper | Inheritance pattern | Healthy range, no. of repeats | Symptomatic range, no. of repeats |
|---|---|---|---|---|---|---|---|
| ATTCT | ATXN10, intron | Spinocerebellar ataxia 10 (SCA10) | 2000 | 535 | Autosomal dominant | 10–22 | 500–4500 |
| DAB1; intron | Spinocerebellar ataxia 37 (SCA37) | 2017 | 22 | Autosomal dominant | <30 | 46–71 | |
| CAG | ATXN1, coding sequence | Spinocerebellar ataxia1 (SCA1) | 1993 | 536 | Autosomal dominant | 6–39 | 41–83 |
| ATXN2, coding sequence | Spinocerebellar ataxia2 (SCA2) | 1996 | 21, 537 | Autosomal dominant | <31 | 33–200 | |
| ATXN3, coding sequence | Spinocerebellar ataxia3 (SCA3) | 1994 | 18 | Autosomal dominant | <44 | 52–86 | |
| CACNA1A, coding sequence | Spinocerebellar ataxia6 (SCA6) | 1997 | 538 | Autosomal dominant | <18 | 20–33 | |
| TPB, coding sequence | Spinocerebellar ataxia 17 (SCA17) | 2001 | 539 | Autosomal dominant | 25–44 | 47–63 | |
| ATN1, coding sequence | Dentatorubral-pallidoluysian atrophy, Naito-Oyanagi disease (DRPLA) | 1994 | 29, 30 | Autosomal dominant | 6–35 | 49–88 | |
| HTT, coding sequence | Huntington disease (HD) | 1993 | 12 | Autosomal dominant | 9–29 | 36–121 | |
| ATXN8, coding sequence | Spinocerebellar ataxia8 (SCA8) | 1999 | 114 | Autosomal dominant | 15–50 | 71–1300 | |
| PPP2R2B, 5′ UTR | Spinocerebellar ataxia 12 (SCA12) | 1999 | 540 | Autosomal dominant | 7–32 | 51–78 | |
| ATXN7, coding sequence | Spinocerebellar ataxia7 (SCA7) | 1997 | 17 | Autosomal dominant | 7–17 | 38–130 | |
| AR, coding sequence | Spinal and bulbar muscular atrophy (SBMA) | 1991 | 10 | X-linked recessive | <34 | >38 | |
| GLS, 5′-UTR | Glutaminase deficiency (GD) | 2019 | 470 | Autosomal recessive | 8–16 | 400–1500 | |
| CCCCGCCCCGCG | CSTB, 5′-UTR | Progressive myoclonus epilepsy of the Unverricht--Lundborg type (EPM1) | 1997 | 541 | Autosomal recessive | 2–3 | 38–77 |
| CCCTCT | TAF1, intron | X-linked dystonia parkinsonism (XDP) | 2019 | 31 | X-linked recessive | N/A | 30–60 |
| CCTG | CNBP, intron | Myotonic mystrophy2 (DM2) | 2001 | 54 | Autosomal dominant | <30 | 75–11,000 |
| CTG | DM1, 3′-UTR | Myotonic mystrophy1 (DM1) | 1992 | 11 | Autosomal dominant | 5–37 | 50–5,000 |
| JPH3, 3′-UTR | Huntington disease-like 2 | 2001 | 542 | Autosomal dominant | 6–28 | >41 | |
| ATXN8, intron | Spinocerebellar ataxia8 (SCA8) | 1999 | 114 | Autosomal dominant | 15–34 | 90–250 | |
| TCF4, intron | Fuchs endothelial corneal dystrophy | 2012 | 543 | Autosomal dominant | <40 | >50 | |
| GAA | DMD, intron | Duchenne muscular dystrophy (DMD) | 2016 | 64 | X-linked recessive | 11–33 | 59–82 |
| FXN, intron | Friedreich ataxia 1 (FRDA) | 1996 | 62 | Autosomal recessive | 5–30 | >70 | |
| CGG | XYLT1, 5′-UTR | Baratela--Scott syndrome (BSS) | 2019 | 544 | Autosomal recessive | 9–20 | 100–800 |
| FMR2, 5′-UTR | Mental retardation, X-linked, associated with fragile site FRAXE | 1993 | 545 | X-linked recessive | 4–39 | >200 | |
| DIP2B, 5′-UTR | Mental retardation, associated with fragile site FRA12A | 2007 | 546 | Autosomal dominant | 12–26 | >150 | |
| FMR1, 5′-UTR | Fragile X mental retardation syndrome | 1991 | 5–9 | X-linked dominant | 6–52 | 231–2000 | |
| CBL, 5′-UTR | Jacobsen syndrome | 1998 | 547 | Not inherited | 11 | >100 | |
| NOTCH2NLC | Neuronal intranuclear inclusion disease (NIID) | 2019 | 380 | Autosomal dominant | 13–30 | 60–959 | |
| GCN (polyAla) | RUNX2, coding sequence | Cleidocranial dysplasia | 1997 | 42 | Autosomal dominant | 17 | 27 |
| SOX3, coding sequence | Mental retardation, X-linked | 2002 | 43 | X-linked recessive | 11 | 15–26 | |
| PRDM12, coding sequence | Congenital insensitivity to pain (CIP) | 2015 | 44 | Autosomal recessive | 12 | 18–19 | |
| PABPN1, coding sequence | Oculopharyngeal muscular dystrophy | 1998 | 45 | Autosomal dominant | 6 | 7–17 | |
| HOXD13, coding sequence | Synpolydactyly 1 | 1996 | 46, 47 | Autosomal dominant | 15 | 22–29 | |
| HOXA13, coding sequence | Hand-foot-genital (HFG) syndrome | 2000 | 48 | Autosomal dominant | 18 | 24–26 | |
| ARX, coding sequence | Epileptic encephalopathy, early infantile, 1 | 2007 | 49, 50 | X-linked recessive | 10–16 | 17–23 | |
| PHOX2B, coding sequence | Central hypoventilation syndrome, congenital | 2003 | 51 | Autosomal dominant | 20 | 24–33 | |
| ZIC2, coding sequence | Holoprosencephaly 5 | 2001 | 52 | Autosomal dominant | 15 | 25 | |
| FOXL2, coding sequence | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2001 | 53 | Autosomal dominant | 14 | 22–24 | |
| GGCCTG | NOP56, intron | Spinocerebellar ataxia 36 (SCA36) | 2011 | 93 | Autosomal dominant | 3–14 | 650–2500 |
| GGGGCC | C9orf72, intron | Amyotrophic lateral sclerosis and frontotemporal degeneration (ALS/FTD) | 2011 | 37, 100 | Autosomal dominant | 2–19 | 250–1600 |
| TGGAA | BEAN1, intron | Spinocerebellar ataxia 31 (SCA31) | 2009 | 548 | Autosomal dominant | 26 | 500–760 |
| TTTCA/TTTTA | SAMD12, intron | Familial adult myoclonic epilepsy1 (FAME1) | 2018 | 67, 68 | Autosomal dominant | 7–20 | 440–3680 |
| TNRC6A, intron | Familial adult myoclonic epilepsy6 (FAME6) | 2018 | 67, 68 | Autosomal dominant | 18 | >22 | |
| RAPGEF2, intron | Familial adult myoclonic epilepsy7 (FAME7) | 2018 | 67, 68 | Autosomal dominant | 18 | >22 | |
| MARCH6, intron | Familial adult myoclonic epilepsy3 (FAME3) | 2019 | 32 | Autosomal dominant | 9–20 | 791–1035 | |
| STARD7, intron | Familial adult myoclonic epilepsy2 (FAME2) | 2019 | 69 | Autosomal dominant | 5–35 | 40–1000 | |
| AAGGG | RFC1, intron | Cerebellar ataxia, neuropathy and vestibular areflexia syndrome | 2019 | 291 | Autosomal recessive | 11 | 400–2000 |