Nucleotide expansions

Expansions

Friedreich’s ataxia

Ref. 31

1 gene

  • FXN

Expansions

Spinocerebellar Ataxia (SCA Panels)

Ref. 35

5 genes

  • ATXN1
  • ATXN2
  • ATXN3
  • ATXN7
  • CACNA1A

Expansions

Spinocerebellar Ataxia (SCA) type 8

Ref. 2926

1 gene

  • ATXN8OS

Expansions

Spinocerebellar Ataxia (SCA) type 12

Ref. 42

1 gene

  • PPP2R2B

Expansions

Spinocerebellar Ataxia (SCA) type 17

Ref. 43

1 gene

  • TBP

Expansions

Dentate-Rubro-Palido-Luysian Atrophy

Ref. 44

1 gene

  • ATN1

Expansions

Kennedy Spinobulbar Atrophy

Ref. 45

1 gene

  • AR

Expansions

Huntington’s chorea

Ref. 100

1 gene

  • HTT

Expansions

Myotonic dystrophy type 1 (DM1), Steiner’s disease

Ref. 131

1 gene

  • DMPK

Expansions

Myotonic dystrophy type 2

Ref. 2282

1 gene

  • CNBP

Expansions

Oculopharyngeal Muscular Dystrophy

Ref. 135

1 gene

  • PABPN1

Expansions

X-Fragile (FRDA)

Ref. 323

1 gene

  • FMR1

Expansions

Ondine, syndrome

Ref. 3050

1 gene

  • PHOX2B

Expansions

Unverricht-Lundborg disease

Ref. 4137

1 gene

  • CSTB

Expansions

Spinocerebellar Ataxia (SCA) Type 10

Ref. 1271

1 gene

  • ATXN10

Expansions

Frontotemporal dementia with amyotrophic lateral sclerosis

Ref. 2919

1 gene

  • C9orf72

Expansions

Hereditary Sensory and Autonomic Neuropathy

Ref. 4651

1 gene

  • PRDM12