Hereditary neutrophilia: genes and variants
Hereditary neutrophilia is linked to 1 analyzed protein (CSF3R). 2 DNA variants are known to cause it; 3 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 Hereditary neutrophilia
CSF3R: Granulocyte colony-stimulating factor receptor
It transmits G-CSF signals that promote neutrophil precursor proliferation, differentiation, and survival. Activating or truncating somatic variants are major drivers of chronic neutrophilic leukemia, while loss-of-function variants can cause severe congenital neutropenia.
2 disease-causing and 3 uncertain variants in CSF3R are linked to Hereditary neutrophilia.
Known disease-causing variants in Hereditary neutrophilia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CSF3R T618I | 618 | Fibronectin type-III 5 | Disease-causing (★★) |
| CSF3R T640N | 640 | Transmembrane | Disease-causing |
Diseases related to Hereditary neutrophilia
- Acute myeloid leukemia, also linked to CSF3R
- Myelodysplastic syndrome, also linked to CSF3R
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, also linked to CSF3R
Frequently asked questions
Which genes are linked to Hereditary neutrophilia?
In CATVariant, Hereditary neutrophilia is linked to 1 analyzed protein: CSF3R (Granulocyte colony-stimulating factor receptor).
How many genetic variants are linked to Hereditary neutrophilia?
7 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary neutrophilia 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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