Gene affected:
GATA2 - GATA-binding factor 2 (originally characterised by ability to bind genetic sequence "GATA"

Clinical significance
GATA2 has importance in inherited early onset bone marrow failure syndromes including MDS, and is also associated with specific immunodeficiency states.

Function of gene

GATA2 is involved in development and regulation of early pluripotent hematopoietic precursors, eosinophils, basophils and mast cells. It suppresses differentiation of bone marrow mesenchymal stem cells to adipocytes. GATA2 maintains the HSC pool.

NGS panel gene coverage

Full gene sequence


Germline mutation
Principally GATA2 is a germline mutation in which an (autosomal dominant mutation) causes a relative deficiency of functional GATA2 (haploinsufficiency). This deficiency results in a range of bone marrow failure syndromes that include early onset myelodysplasia or myelomonocytic leukaemia states, as well as specific immunodeficiency states. There are often unusual marrow appearances with atypical megakaryocytes and dysplasia.
Acquired mutation
The association between GATA2 and early onset myelodysplasia is high (15%) with a very strong association with monosomy 7 (more than 70%) and making it the most frequent inherited cause of bone marrow failure.

Associated genetic features: GATA2 mutation is often accompanied by ASXL1 mutation.


GeneWiki link:
Gene Wiki entry for GATA2
1. GATA mutations in haematology
2. GATA2 and myelodysplasia