Table 3.
Single nucleotide and small insertion or deletion variant findings
| Individual ID | Sex | Age at testing | Age at onset | FHx of CA | Gene | Disease | Inheritance | Genomic variant (hg38) | HGVSc | HGVSp | Zygosity | Consequence | Classification | Clinical presentation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P074 | F | 57 | 39 | − | ANO10 | SCAR10 | AR | Chr3:43574873T>C | c.1163-9A>G | Hom | Splice acceptor | P | CA | |
| P109 | M | 61 | ND | + | CACNA1G | SCA42 | AD | Chr17:50617560G>A | c.5144G>A | p.(Arg1715His) | Het | Missense | P | CA |
| P018 | M | 30 | 26 | − | HEXA | Tay Sachs disease | AR | Chr15:72350518C>T Chr15:72375740C>T |
c.805G>A c.233G>A |
p.(Gly269Ser) p.(Trp78*) |
Het Het |
Missense Stop gained |
P P |
CA and reduced muscle power |
| P049 | F | 57 | 17 | + | PNPT1 | SCA25 | AD | Chr2:55643216G>C | c.2014-3C>G | Het | Splice acceptor | LP | CA | |
| P096 | M | 75 | 68 | − | SPG7 | SPG7 | AR | Chr16:89546737C>T | c.1529C>T | p.(Ala510Val) | Hom | Missense | P | CA, spasticity and osteoarthritis |
| P020 | M | 68 | ND | − | STUB1 | SCA48 | AD | Chr16:681504CGAA>C | c.433_435del | p.(Lys145del) | Het | Inframe deletion | LP | CA, akathisia and hyperreflexia |
| P059 | M | 76 | 72 | + | TTBK2 | SCA11 | AD | Chr15:42777132ATC>A | c.1306_1307del | p.(Asp436Tyrfs*14) | Het | Frameshift | P | CA, laryngeal tremor, sensorimotor neuropathy and dementia |
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M, male; F, female; ND, no data available; FHx, family history; CA, cerebellar ataxia; −, absent; +, present; SCAR10, autosomal recessive spinocerebellar ataxia type 10; SPG7, spastic paraplegia 7; AD, autosomal dominant; AR, autosomal recessive; Het, heterozygous; Hom, homozygous; P, pathogenic; LP, likely pathogenic.
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Transcripts: ANO10, NM_018075.5; CACNA1G, NM_018896.5; HEXA, NM_000520.6; PNPT1, NM_033109.5; SPG7, NM_003119.4; STUB1, NM_005861.4; TTBK2, NM_173500.4.
