Cytopenias and congenital anaemias
Gene: GATA2Comment when marking as ready: Included on panel based on clinical discussion with Helen Brittain who agrees that bone marrow failure phenotype is relevant to panel. Sufficient cases to support causation.Created: 9 Mar 2017, 3:49 p.m.
GATA2 is susceptibility locus for Leukemia (AML) and MDS. It's also reported for Emberger syndrome (LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA) which includes the phenotype Pancytopenia. Therefore discussed the clinical side with Helen Brittain who says: since GATA2 is established cause of bone marrow failure it is therefore appropriate for the panel. It is unpredictable clinically in terms of when / if the progression to AML may occur.Created: 9 Mar 2017, 11:52 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.Created: 8 Mar 2017, 10:54 a.m.
Only Somatic mutations reported in COSMIC cancer gene census. Germline mutations recorded in PMID:21670465.Created: 8 Mar 2017, 10:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric; Congenital dyserythropoietic anemia (CDA)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag somatic-germline was removed from gene: GATA2. Tag somatic tag was added to gene: GATA2.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Phenotypes for GATA2 were set to Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies; Familial MDS (Myelodysplastic syndromes); Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172; Emberger syndrome, 614038 (includes pancytopenia); {Myelodysplastic syndrome, susceptibility to}, 614286; {Leukemia, acute myeloid, susceptibility to}, 601626; Primary Lymphedema with Myelodysplasia; Immunodeficiency 21; Leukemia, Acute Myeloid; Lymphedema, Primary, With Myelodysplasia; Myelodysplastic Syndrome; Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency; Congenital dyserythropoietic anemia (CDA)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GATA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for GATA2 were set to Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies; Familial MDS (Myelodysplastic syndromes); Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172; Emberger syndrome, 614038 (includes pancytopenia); {Myelodysplastic syndrome, susceptibility to}, 614286; {Leukemia, acute myeloid, susceptibility to}, 601626; Primary Lymphedema with Myelodysplasia; Immunodeficiency 21; Leukemia, Acute Myeloid; Lymphedema, Primary, With Myelodysplasia; Myelodysplastic Syndrome; Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency
Publications for GATA2 were set to 21892162;27418648
GATA2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
GATA2 was created by LouiseD