Piebaldism: genes and variants
Piebaldism is linked to 1 analyzed protein (KIT). 8 DNA variants are known to cause it; 43 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 Piebaldism
KIT: Mast/stem cell growth factor receptor Kit
Stem-cell-factor signaling through this pathway supports hematopoietic progenitors, mast cells, melanocytes, and germ cells. Activating variants drive gastrointestinal stromal tumors, systemic mastocytosis, and other malignancies, whereas loss-of-function variants can cause piebaldism.
8 disease-causing and 43 uncertain variants in KIT are linked to Piebaldism.
Where Piebaldism variants cluster
- KIT Cytoplasmic (positions 546–976): 8 of 8 disease-causing changes, 2.3× more than its size predicts.
Known disease-causing variants in Piebaldism
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KIT A621T | 621 | Protein kinase | Disease-causing (★★) |
| KIT A617T | 617 | Protein kinase | Disease-causing (★★) |
| KIT L667R | 667 | Protein kinase | Disease-causing (★) |
| KIT Q549H | 549 | Cytoplasmic | Disease-causing (★) |
| KIT I805M | 805 | Protein kinase | Disease-causing (★) |
| KIT G664R | 664 | Protein kinase | Disease-causing |
| KIT T847P | 847 | Protein kinase | Disease-causing |
| KIT F584C | 584 | Cytoplasmic | Disease-causing |
Which prediction tools work for Piebaldism
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Gastrointestinal stromal tumor is also caused by KIT variants; they fall mostly in different places as the Piebaldism variants (23 disease-causing).
- Cutaneous mastocytosis is also caused by KIT variants; they fall mostly in different places as the Piebaldism variants (3 disease-causing).
Diseases related to Piebaldism
- Gastrointestinal stromal tumor, also linked to KIT
- Ovarian cancer, also linked to KIT
- Acute myeloid leukemia, also linked to KIT
- Colorectal cancer, also linked to KIT
- Hepatocellular carcinoma, also linked to KIT
- Renal cell carcinoma, also linked to KIT
- Cutaneous mastocytosis, also linked to KIT
- Malignant tumor of testis, also linked to KIT
- Germ cell tumor of testis, also linked to KIT
- Mastocytosis, also linked to KIT
Frequently asked questions
Which genes are linked to Piebaldism?
In CATVariant, Piebaldism is linked to 1 analyzed protein: KIT (Mast/stem cell growth factor receptor Kit).
How many genetic variants are linked to Piebaldism?
57 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 43 are of uncertain significance or have conflicting reports.
Which uncertain variants in Piebaldism 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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