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GENATLAS PHENOTYPE

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

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