Spastic tetraplegia and axial hypotonia, progressive: genes and variants
Spastic tetraplegia and axial hypotonia, progressive is linked to 1 analyzed protein (SOD1). 5 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Spastic tetraplegia and axial hypotonia, progressive
SOD1: Superoxide dismutase [Cu-Zn]
It detoxifies superoxide radicals in the cytosol and mitochondrial intermembrane space, limiting oxidative injury. Pathogenic variants cause amyotrophic lateral sclerosis mainly through toxic properties of mutant protein rather than simple loss of antioxidant activity.
5 disease-causing and 2 uncertain variants in SOD1 are linked to Spastic tetraplegia and axial hypotonia, progressive.
Known disease-causing variants in Spastic tetraplegia and axial hypotonia, progressive
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SOD1 I114T | 114 | Disease-causing (★★) | |
| SOD1 F21L | 21 | Disease-causing (★★) | |
| SOD1 L85F | 85 | Disease-causing (★★) | |
| SOD1 G86S | 86 | Disease-causing (★★) | |
| SOD1 G42S | 42 | Disease-causing (★★) |
Same protein, different disease
- Amyotrophic lateral sclerosis is also caused by SOD1 variants; they fall mostly in different places as the Spastic tetraplegia and axial hypotonia, progressive variants (104 disease-causing).
- Motor neuron disease is also caused by SOD1 variants; they fall mostly in different places as the Spastic tetraplegia and axial hypotonia, progressive variants (5 disease-causing).
Diseases related to Spastic tetraplegia and axial hypotonia, progressive
- Amyotrophic lateral sclerosis, also linked to SOD1
- Motor neuron disease, also linked to SOD1
Frequently asked questions
Which genes are linked to Spastic tetraplegia and axial hypotonia, progressive?
In CATVariant, Spastic tetraplegia and axial hypotonia, progressive is linked to 1 analyzed protein: SOD1 (Superoxide dismutase [Cu-Zn]).
How many genetic variants are linked to Spastic tetraplegia and axial hypotonia, progressive?
7 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Spastic tetraplegia and axial hypotonia, progressive look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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