Autosomal recessive ataxia due to ubiquinone deficiency: genes and variants
Autosomal recessive ataxia due to ubiquinone deficiency is linked to 1 analyzed protein (COQ8A). 23 DNA variants are known to cause it; 37 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 Autosomal recessive ataxia due to ubiquinone deficiency
COQ8A: Atypical kinase COQ8A, mitochondrial
It supports coenzyme Q biosynthesis and mitochondrial respiratory function, particularly in neurons and cerebellar tissue. Biallelic pathogenic variants cause primary coenzyme Q10 deficiency with cerebellar ataxia and variable seizures, neuropathy, or developmental impairment.
23 disease-causing and 37 uncertain variants in COQ8A are linked to Autosomal recessive ataxia due to ubiquinone deficiency.
Where Autosomal recessive ataxia due to ubiquinone deficiency variants cluster
- COQ8A KxGQ motif (positions 276–279): 3 of 23 disease-causing changes, 21.1× more than its size predicts.
Known disease-causing variants in Autosomal recessive ataxia due to ubiquinone deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COQ8A R301Q | 301 | Disease-causing (★★) | |
| COQ8A A304T | 304 | Disease-causing (★★) | |
| COQ8A A304V | 304 | Disease-causing (★★) | |
| COQ8A L277P | 277 | KxGQ motif | Disease-causing (★★) |
| COQ8A R299W | 299 | Disease-causing (★★) | |
| COQ8A R301W | 301 | Disease-causing (★★) | |
| COQ8A A338T | 338 | Protein kinase | Disease-causing (★★) |
| COQ8A A338V | 338 | Protein kinase | Disease-causing (★★) |
| COQ8A R213Q | 213 | Disease-causing (★★) | |
| COQ8A R213W | 213 | Disease-causing (★★) | |
| COQ8A M555I | 555 | Disease-causing (★★) | |
| COQ8A T511M | 511 | Protein kinase | Disease-causing (★★) |
| COQ8A G272C | 272 | Disease-causing (★) | |
| COQ8A G272A | 272 | Disease-causing (★) | |
| COQ8A K276R | 276 | KxGQ motif | Disease-causing (★) |
| COQ8A Q279P | 279 | KxGQ motif | Disease-causing (★) |
| COQ8A G615D | 615 | Disease-causing (★) | |
| COQ8A L459P | 459 | Protein kinase | Disease-causing (★) |
| COQ8A G272D | 272 | Disease-causing | |
| COQ8A R271C | 271 | Disease-causing | |
| COQ8A P207L | 207 | Disease-causing | |
| COQ8A Y514C | 514 | Protein kinase | Disease-causing |
| COQ8A E551K | 551 | Disease-causing |
Which prediction tools work for Autosomal recessive ataxia due to ubiquinone deficiency
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- REVEL: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 95 out of 100
- CADD: 94 out of 100
- phyloP: 80 out of 100
Diseases related to Autosomal recessive ataxia due to ubiquinone deficiency
- Mitochondrial disease, also linked to COQ8A
Frequently asked questions
Which genes are linked to Autosomal recessive ataxia due to ubiquinone deficiency?
In CATVariant, Autosomal recessive ataxia due to ubiquinone deficiency is linked to 1 analyzed protein: COQ8A (Atypical kinase COQ8A, mitochondrial).
How many genetic variants are linked to Autosomal recessive ataxia due to ubiquinone deficiency?
87 variants: 23 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 37 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal recessive ataxia due to ubiquinone deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Autosomal recessive ataxia due to ubiquinone deficiency?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.95, based on 21 disease-causing and 11 harmless variants).
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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