- Gene affected:
- CSF3 - Colony Stimulating Factor 3 Receptor
- Clinical significance
- Presence of a CSF3R mutation is an important part of the WHO 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia diagnostic criteria for Chronic Neutrophil Leukaemia (CNL) and aids in separating from reactive causes of neutrophilia.
Function of gene
CSF3R is important in the proliferation, differentiation and survival of neutrophilic lineage cells and is essential for granulocytic maturation
NGS panel gene coverage
NOTE Germline CSF3R mutations are associated with Congenital neutropenia