Parkinsonism-dystonia, infantile: genes and variants
Explore variant evidence for Parkinsonism-dystonia, infantile across 2 analyzed proteins (SLC6A3, SLC18A2). Linked ClinVar records include 1 pathogenic or likely pathogenic variants, 102 variants of uncertain significance and 7 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 Parkinsonism-dystonia, infantile
SLC6A3: Sodium-dependent dopamine transporter
It clears dopamine from the synaptic cleft back into presynaptic neurons and thereby controls the duration and intensity of dopamine signaling. Biallelic pathogenic variants cause dopamine-transporter deficiency syndrome with early dystonia and progressive parkinsonism.
1 ClinVar pathogenic / likely pathogenic and 109 uncertain variants in SLC6A3 have source records linked to Parkinsonism-dystonia, infantile. Association strength is not clinical gene validity.
SLC18A2: Synaptic vesicular amine transporter
It packages dopamine, serotonin, norepinephrine, and other monoamines into acidic secretory vesicles for regulated release. Biallelic loss-of-function variants cause a severe monoamine neurotransmitter disorder, while pharmacologic inhibition is used to treat hyperkinetic movement disorders.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in SLC18A2 have source records linked to Parkinsonism-dystonia, infantile. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Parkinsonism-dystonia, infantile
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC6A3 G386R | 386 | Extracellular | Pathogenic / likely pathogenic (★) |
Same protein, different disease
- Classic dopamine transporter deficiency syndrome also has ClinVar records linked to SLC6A3 variants; they fall mostly in different places as the Parkinsonism-dystonia, infantile variants (3 pathogenic / likely pathogenic).
Diseases related to Parkinsonism-dystonia, infantile
- Alzheimer disease, also linked to SLC18A2 and SLC6A3
- Classic dopamine transporter deficiency syndrome, also linked to SLC6A3
- Brain dopamine-serotonin vesicular transport disease, also linked to SLC18A2
Frequently asked questions
Which genes have records linked to Parkinsonism-dystonia, infantile?
This view contains 2 analyzed proteins: SLC6A3, SLC18A2. 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 1 pathogenic or likely pathogenic variants, 102 variants of uncertain significance and 7 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 123 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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