Genetic Variants of Severe Congenital Neutropenia.

Gene	Gene Function	Incidence of Variant	Inheritance	Associated Features
ELA2	Serine protease	50–60%	Autosomal dominant, sporadic	Isolated neutropenia
HAX1	Mitochondrial function	Unknown	Autosomal recessive	Neurologic and neuropsychological abnormalities in some cases
GFI1	Transcription factor	Rare	Autosomal dominant	Monocytosis and defects in lymphocyte number and function
WAS	Cytoskeleton function	Rare	X-linked recessive	Monocytopenia and T-lymphocyte activation
CSF3R	G-CSF receptor	Rare	Autosomal dominant	Severe myeloid hypoplasia in the bone marrow; resistant to G-CSF treatment
G6PC3	Glucose metabolism	Unknown	Autosomal recessive	Cardiac defects, thrombocytopenia, and urogenital abnormalities