CSF3R

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Monitoring for G(M)CSF escape mutations

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• autosomal recessive severe congenital neutropenia due to CSF3R deficiency

  0.78

• myelodysplastic syndrome

  0.64

• neoplasm

  0.63

• hereditary neutrophilia

  0.61

• neutropenia

  0.60

• cancer

  0.60

• severe congenital neutropenia

  0.58

• aplastic anemia

  0.56

• acute myeloid leukemia

  0.54

• infection

  0.53

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with CSF3R

Curated MONDO disease pages that list CSF3R among their top associated genes.

• myelodysplastic syndromeRare
• neuroblastomaRare