List of diseases covered by Neutropenia NGS panel

Gene Condition
AP3B1 Hermansky-Pudlak syndrome 2
CSF3R Neutropenia, severe congenital, 7, autosomal recessive
CXCR2 WHIM syndrome 2
CXCR4 WHIM syndrome
DNAJC21 Bone marrow failure syndrome 3
EFL1 Shwachman-Diamond syndrome 2
ELANE Neutropenia, cyclic;
Neutropenia, severe congenital 1, autosomal dominant
GATA1 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities;
Thrombocytopenia with beta-thalassemia, X-linked;
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
GATA2 Emberger syndrome; Immunodeficiency 21
GFI1 Neutropenia, severe congenital 2, autosomal dominant;
Neutropenia, nonimmune chronic idiopathic, of adults
G6PC3 Neutropenia, severe congenital 4, autosomal recessive
HAX1 Neutropenia, severe congenital 3, autosomal recessive
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive
LAMTOR2 Immunodeficiency due to defect in MAPBP-interacting protein
LYST Chediak-Higashi syndrome
RAB27A Griscelli syndrome, type 2
RAC2 Immunodeficiency 73A with defective neutrophil
chemotaxix and leukocytosis;
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia;
Immunodeficiency 73C with defective neutrophil chemotaxis
and hypogammaglobulinemia
SBDS Shwachman-Diamond syndrome; Aplastic anemia, susceptibility to
SLC37A4 Glycogen storage disease Ib; Glycogen storage disease Ic
SMARCD2 Specific granule deficiency 2
SRP54 Neutropenia, severe congenital, 8, autosomal dominant
TAFAZZIN Barth syndrome
USB1 Poikiloderma with neutropenia
VPS13B Cohen syndrome
VPS45 Neutropenia, severe congenital, 5, autosomal recessive
WAS Neutropenia, severe congenital, X-linked;
Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome
WIPF1 Wiskott-Aldrich syndrome 2