Autosomal recessive severe congenital neutropenia due to CSF3R deficiency: genes and variants
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is linked to 1 analyzed protein (CSF3R). 2 DNA variants are known to cause it; 303 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 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
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 303 uncertain variants in CSF3R are linked to Autosomal recessive severe congenital neutropenia due to CSF3R deficiency.
Known disease-causing variants in Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CSF3R R308C | 308 | Fibronectin type-III 2 | Disease-causing (★★) |
| CSF3R T618I | 618 | Fibronectin type-III 5 | Disease-causing (★★) |
Diseases related to Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Acute myeloid leukemia, also linked to CSF3R
- Myelodysplastic syndrome, also linked to CSF3R
- Hereditary neutrophilia, also linked to CSF3R
Frequently asked questions
Which genes are linked to Autosomal recessive severe congenital neutropenia due to CSF3R deficiency?
In CATVariant, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is linked to 1 analyzed protein: CSF3R (Granulocyte colony-stimulating factor receptor).
How many genetic variants are linked to Autosomal recessive severe congenital neutropenia due to CSF3R deficiency?
330 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 303 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center