Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss: genes and variants
Explore variant evidence for Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss across 1 analyzed protein (ATP1A3). Linked ClinVar records include 18 pathogenic or likely pathogenic variants, 7 variants of uncertain significance and 2 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
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Genes linked to Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
ATP1A3: Sodium/potassium-transporting ATPase subunit alpha-3
It rapidly restores neuronal sodium and potassium gradients after repetitive firing, making it particularly important in highly active neurons. Pathogenic variants cause overlapping syndromes including alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and CAPOS syndrome.
18 ClinVar pathogenic / likely pathogenic and 9 uncertain variants in ATP1A3 have source records linked to Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss. Association strength is not clinical gene validity.
Where Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss variants cluster
- ATP1A3 Transmembrane (positions 307–345): 3 of 18 ClinVar pathogenic / likely pathogenic variants, 4.3× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP1A3 R756C | 756 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| ATP1A3 G947R | 947 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| ATP1A3 G947W | 947 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| ATP1A3 P323S | 323 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| ATP1A3 E324G | 324 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| ATP1A3 G325D | 325 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| ATP1A3 G358D | 358 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| ATP1A3 E818K | 818 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| ATP1A3 Q851R | 851 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| ATP1A3 D923N | 923 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| ATP1A3 M154V | 154 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| ATP1A3 G706R | 706 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| ATP1A3 D742Y | 742 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| ATP1A3 T771I | 771 | Transmembrane | Pathogenic / likely pathogenic (★) |
| ATP1A3 G848A | 848 | Transmembrane | Pathogenic / likely pathogenic (★) |
| ATP1A3 C927Y | 927 | Transmembrane | Pathogenic / likely pathogenic (★) |
| ATP1A3 G89C | 89 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| ATP1A3 R756L | 756 | Cytoplasmic | Pathogenic / likely pathogenic |
Same protein, different disease
- Alternating hemiplegia of childhood also has ClinVar records linked to ATP1A3 variants; they fall mostly in different places as the Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss variants (23 pathogenic / likely pathogenic).
- ATP1A3-associated neurological disorder also has ClinVar records linked to ATP1A3 variants; they fall partly in the same places as the Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss variants (4 pathogenic / likely pathogenic).
Diseases related to Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
- Alternating hemiplegia of childhood, also linked to ATP1A3
- ATP1A3-associated neurological disorder, also linked to ATP1A3
- Hereditary ataxia, also linked to ATP1A3
Frequently asked questions
Which genes have records linked to Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss?
This view contains 1 analyzed proteins: ATP1A3. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 18 pathogenic or likely pathogenic variants, 7 variants of uncertain significance and 2 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 34 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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