Gene affected:
GATA1 - GATA-binding factor 1 (Erythroid transcription factor)

Clinical significance
GATA1 is important in leukaemia and transient abnormal myelopoiesis in Down Syndrome. It is also associated with Diamond Blackfan syndrome (although most have mutations affecting ribosome formation genes (RPS19)

Function of gene

GATA1 regulates the expression of several genes that promote the maturation of erythroblasts, and of platelets from megakaryoblasts, promegakaryocytes, and megakaryocytes. GATA1 function is required for the development of erythroid and megakaryocytic lineages (loss in mouse embryo-derived stem cells causes a complete lack of primitive erythroid precursor).

NGS panel gene coverage

Exon 2


Inherited dyserythropoietic anaemias
Mutations that lead to functional GATA1 deficiency contribute to Diamond-Blackfan anaemia and to a range of related dyserythropoietic and thrombocytopenic states.
Down Syndrome
In children with Down syndrome GATA1 mutation underlies transient abnormal myelopoiesis (TAM) and acute megakaryoblastic leukaemia cases.


GeneWiki link:
Gene Wiki entry for GATA1
1. GATA1 in AMKL of Down Syndrome
2. GATA1 and GATA2 in haematology