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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