Paroxysmal exertion-induced dyskinesia: genes and variants
Explore variant evidence for Paroxysmal exertion-induced dyskinesia across 1 analyzed protein (SLC2A1). Linked ClinVar records include 18 pathogenic or likely pathogenic variants, 20 variants of uncertain significance and 4 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.
Download variant evidence (CSV)
Genes linked to Paroxysmal exertion-induced dyskinesia
SLC2A1: Solute carrier family 2, facilitated glucose transporter member 1
It provides basal glucose uptake in many tissues and is the principal route for glucose entry across the blood-brain barrier. Haploinsufficiency causes GLUT1 deficiency syndrome with epilepsy, developmental impairment, and movement disorders from inadequate brain glucose delivery.
18 ClinVar pathogenic / likely pathogenic and 24 uncertain variants in SLC2A1 have source records linked to Paroxysmal exertion-induced dyskinesia. Association strength is not clinical gene validity.
Where Paroxysmal exertion-induced dyskinesia variants cluster
- SLC2A1 Cytoplasmic (positions 145–155): 3 of 18 ClinVar pathogenic / likely pathogenic variants, 7.5× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Paroxysmal exertion-induced dyskinesia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC2A1 R153C | 153 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| SLC2A1 N34S | 34 | Extracellular | Pathogenic / likely pathogenic (★★) |
| SLC2A1 R153H | 153 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| SLC2A1 R153S | 153 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| SLC2A1 A275T | 275 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| SLC2A1 R400H | 400 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| SLC2A1 R92W | 92 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| SLC2A1 T310I | 310 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| SLC2A1 R333Q | 333 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| SLC2A1 V165I | 165 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| SLC2A1 L231P | 231 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| SLC2A1 S313F | 313 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC2A1 M142L | 142 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC2A1 N34I | 34 | Extracellular | Pathogenic / likely pathogenic |
| SLC2A1 L284P | 284 | Transmembrane | Pathogenic / likely pathogenic |
| SLC2A1 F379S | 379 | Transmembrane | Pathogenic / likely pathogenic |
| SLC2A1 F434V | 434 | Transmembrane | Pathogenic / likely pathogenic |
| SLC2A1 S95I | 95 | Transmembrane | Pathogenic / likely pathogenic |
Same protein, different disease
- GLUT1 deficiency syndrome also has ClinVar records linked to SLC2A1 variants; they fall mostly in different places as the Paroxysmal exertion-induced dyskinesia variants (53 pathogenic / likely pathogenic).
- Encephalopathy due to GLUT1 deficiency also has ClinVar records linked to SLC2A1 variants; they fall partly in the same places as the Paroxysmal exertion-induced dyskinesia variants (32 pathogenic / likely pathogenic).
- Hereditary cryohydrocytosis with reduced stomatin also has ClinVar records linked to SLC2A1 variants; they fall mostly in different places as the Paroxysmal exertion-induced dyskinesia variants (5 pathogenic / likely pathogenic).
- Epilepsy, idiopathic generalized, susceptibility to, 13 also has ClinVar records linked to SLC2A1 variants; they fall mostly in different places as the Paroxysmal exertion-induced dyskinesia variants (4 pathogenic / likely pathogenic).
Diseases related to Paroxysmal exertion-induced dyskinesia
- GLUT1 deficiency syndrome, also linked to SLC2A1
- Epilepsy, idiopathic generalized, susceptibility to, 13, also linked to SLC2A1
- Encephalopathy due to GLUT1 deficiency, also linked to SLC2A1
- Idiopathic generalized epilepsy, also linked to SLC2A1
- Rolandic epilepsy, also linked to SLC2A1
- Developmental disorder, also linked to SLC2A1
- Hereditary cryohydrocytosis with reduced stomatin, also linked to SLC2A1
Frequently asked questions
Which genes have records linked to Paroxysmal exertion-induced dyskinesia?
This view contains 1 analyzed proteins: SLC2A1. 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, 20 variants of uncertain significance and 4 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 54 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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