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References OMIM Gene GeneReviews HGMD HGNC
last update : 31-03-2015
Symbol SCNP5
Location 1q21.2
Name neutropenia, severe congenital, 5
Corresponding gene VPS45
Other symbol(s) SCN5
Main clinical features
  • primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease