Benign hereditary chorea: genes and variants
Benign hereditary chorea is linked to 1 analyzed protein (NKX2-1). 4 DNA variants are known to cause it; 8 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 Benign hereditary chorea
NKX2-1: Homeobox protein Nkx-2.1
It controls developmental and tissue-specific gene programs in lung, thyroid, and basal ganglia. Haploinsufficiency causes brain-lung-thyroid syndrome, variably combining chorea or developmental movement disorder, neonatal respiratory disease, and thyroid dysfunction.
4 disease-causing and 8 uncertain variants in NKX2-1 are linked to Benign hereditary chorea.
Known disease-causing variants in Benign hereditary chorea
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NKX2-1 P261R | 261 | Disease-causing (★★) | |
| NKX2-1 W208S | 208 | Homeobox | Disease-causing (★) |
| NKX2-1 L194P | 194 | Homeobox | Disease-causing (★) |
| NKX2-1 R213S | 213 | Homeobox | Disease-causing |
Same protein, different disease
- Brain-lung-thyroid syndrome is also caused by NKX2-1 variants; they fall partly in the same places as the Benign hereditary chorea variants (14 disease-causing).
Diseases related to Benign hereditary chorea
- Brain-lung-thyroid syndrome, also linked to NKX2-1
- Multiple myeloma, also linked to NKX2-1
- Thyroid cancer, nonmedullary, 2, also linked to NKX2-1
- Hereditary ataxia, also linked to NKX2-1
Frequently asked questions
Which genes are linked to Benign hereditary chorea?
In CATVariant, Benign hereditary chorea is linked to 1 analyzed protein: NKX2-1 (Homeobox protein Nkx-2.1).
How many genetic variants are linked to Benign hereditary chorea?
13 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 8 are of uncertain significance or have conflicting reports.
Which uncertain variants in Benign hereditary chorea 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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