Autosomal recessive spinocerebellar ataxia 12: genes and variants
Autosomal recessive spinocerebellar ataxia 12 is linked to 2 analyzed proteins (WWOX and SPTBN2). 7 DNA variants are known to cause it; 370 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: autosomal recessive spinocerebellar ataxia 14
Genes linked to Autosomal recessive spinocerebellar ataxia 12
WWOX: WW domain-containing oxidoreductase
It participates in cellular stress, metabolism, and transcriptional signaling and spans a common fragile site frequently altered in cancer. Biallelic loss-of-function variants cause severe developmental and epileptic encephalopathy or spinocerebellar ataxia, depending on residual function.
5 disease-causing and 340 uncertain variants in WWOX are linked to Autosomal recessive spinocerebellar ataxia 12.
SPTBN2: Spectrin beta chain, non-erythrocytic 2
It organizes the neuronal membrane cytoskeleton and is particularly important for Purkinje-cell structure and signaling in the cerebellum. Dominant variants cause spinocerebellar ataxia type 5 or early-onset developmental ataxia, while biallelic variants can cause a more severe SCAR phenotype.
2 disease-causing and 30 uncertain variants in SPTBN2 are linked to Autosomal recessive spinocerebellar ataxia 12.
Known disease-causing variants in Autosomal recessive spinocerebellar ataxia 12
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| WWOX G372R | 372 | Interaction with MAPT | Disease-causing (★★) |
| WWOX Q230P | 230 | Mediates targeting to the mitochondria | Disease-causing (★★) |
| WWOX M1T | 1 | Disease-causing (★) | |
| WWOX M1L | 1 | Disease-causing (★) | |
| SPTBN2 R1482W | 1482 | Spectrin 11 | Disease-causing (★) |
| SPTBN2 R414C | 414 | Spectrin 1 | Disease-causing |
| WWOX P47T | 47 | WW 1 | Disease-causing |
Same protein, different disease
- Spinocerebellar ataxia type 6 is also caused by SPTBN2 variants; they fall mostly in different places as the Autosomal recessive spinocerebellar ataxia 12 variants (9 disease-causing).
Diseases related to Autosomal recessive spinocerebellar ataxia 12
- Spinocerebellar ataxia type 6, also linked to SPTBN2
- Cerebellar ataxia, also linked to SPTBN2
- Malignant tumor of esophagus, also linked to WWOX
- Undetermined early-onset epileptic encephalopathy, also linked to WWOX
Frequently asked questions
Which genes are linked to Autosomal recessive spinocerebellar ataxia 12?
In CATVariant, Autosomal recessive spinocerebellar ataxia 12 is linked to 2 analyzed proteins: WWOX (WW domain-containing oxidoreductase) and SPTBN2 (Spectrin beta chain, non-erythrocytic 2).
How many genetic variants are linked to Autosomal recessive spinocerebellar ataxia 12?
411 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 370 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal recessive spinocerebellar ataxia 12 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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