SETX Chromosome 9
Senataxin
Upload your DNA to see your personal genotypes for variants in SETX.
What This Gene Does
This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"UPF1 like RNA helicases|SSU processome"
Locus Type
gene with protein product
Location
9q34.13
Ensembl
ENSG00000107290
Associated Conditions (46)
Hereditary spastic paraplegia
Spinocerebellar ataxia
autosomal recessive
with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder
Inborn genetic diseases
Amyotrophic lateral sclerosis
Frontotemporal dementia
Sarcoma
Neuronopathy
distal hereditary motor
autosomal dominant
See cases
Charcot-Marie-Tooth disease
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Limb-girdle muscular dystrophy
Cone-rod dystrophy
Spastic paraplegia
+26 more conditions
Key Variants
RS1045096306
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Spinocerebellar ataxia, autosomal recessive
Health Risk
RS111537259
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia, autosomal recessive
Health Risk
RS11545230
Conflicting classifications of pathogenicity
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Health Risk
RS115701916
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive
Health Risk
RS1159002597
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
Health Risk
RS1160553456
Conflicting classifications of pathogenicity
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Health Risk
RS117326462
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive
Health Risk
RS117861188
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive
Health Risk
RS1180510096
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia, autosomal recessive
Health Risk
RS1198947358
Conflicting classifications of pathogenicity
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Health Risk
RS1210056357
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
Health Risk
RS121434380
Conflicting classifications of pathogenicity
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Health Risk
All Variants (446)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS948232391 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |
| RS956812554 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |
| RS971534664 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia |
| RS978380834 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |
| RS998278975 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spinocerebellar ataxia, autosomal recessive |
| RS1038776365 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |
| RS1057519213 | Health Risk | Likely pathogenic | — |
| RS1186690391 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |
| RS121434378 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Distal spinal muscular atrophy, Amyotrophic lateral sclerosis type 4 |
| RS1339011741 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS1554801819 | Health Risk | Likely pathogenic | — |
| RS1554804809 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |
| RS1554806979 | Health Risk | Likely pathogenic | — |
| RS1554807765 | Health Risk | Likely pathogenic | — |
| RS1844781818 | Health Risk | Likely pathogenic | — |
| RS1844937854 | Health Risk | Likely pathogenic | — |
| RS1847100683 | Health Risk | Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS1848052674 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS200154603 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS2131137637 | Health Risk | Likely pathogenic | — |
| RS2131294861 | Health Risk | Likely pathogenic | — |
| RS2131429676 | Health Risk | Likely pathogenic | — |
| RS2131463306 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4 |
| RS2131463325 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4 |
| RS2131463657 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4 |
| RS2538921517 | Health Risk | Likely pathogenic | — |
| RS2538980290 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS2539022534 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS2539124114 | Health Risk | Likely pathogenic | — |
| RS2539125316 | Health Risk | Likely pathogenic | — |
| RS2539140886 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4 |
| RS2539180244 | Health Risk | Likely pathogenic | SETX-related disorder, SETX-related disorder |
| RS28941475 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Distal spinal muscular atrophy, Amyotrophic lateral sclerosis type 4 |
| RS587776537 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS748700245 | Health Risk | Likely pathogenic | — |
| RS754618817 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |
| RS759299299 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS763859485 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS768582274 | Health Risk | Likely pathogenic | — |
| RS797045068 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS863224919 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS901109960 | Health Risk | Likely pathogenic | — |
| RS1057520367 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |
| RS121434376 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS121434377 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS121434379 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS121434381 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| RS1362178149 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |
| RS1439109327 | Health Risk | Pathogenic | — |
| RS1451908310 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive |