Congenital Neutropenia (VPS45-Related) (VPS45)

Congenital neutropenia (VPS45-related) is an autosomal recessive disorder caused by pathogenic variants in the gene VPS45, which has the highest prevalence in individuals from Palestine. This disorder is characterized by bone marrow failure with reduced neutrophils, presenting in infancy. Patients have multiple bacterial and fungal infections, failure to thrive, and enlarged livers and spleens. Death may occur in infancy or childhood due to sepsis or complications from bone marrow transplantation. No genotype-phenotype correlation has been observed.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):