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 |