GATA2

GATA binding protein 2
OMIM: 137295
PanelMode of inheritanceDetails
7 panels
R-numbers: R91
Signed-off version 1.29
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital dyserythropoietic anemia (CDA), Myelodysplastic Syndrome, Familial MDS (Myelodysplastic syndromes), Leukemia, Acute Myeloid, {Leukemia, acute myeloid, susceptibility to}, 601626, Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies, {Myelodysplastic syndrome, susceptibility to}, 614286, Primary Lymphedema with Myelodysplasia, Lymphedema, Primary, With Myelodysplasia, Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency, 614038 Emberger syndrome, Immunodeficiency 21, Emberger syndrome, 614038 (includes pancytopenia), Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EMBERGER SYNDROME 614038
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EMBERGER SYNDROME
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: familial predisp to leukaemia (typ AD), Familial AML with mutated GATA2, GATA2-spectrum disorders, MDS, AML, CMML, Monocytopenia and mycobacterial infection syndrome, Emberger syndrome, immune deficiencies, No other known cancer risks
R-numbers: R347
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
601626 {Leukemia, acute myeloid, susceptibility to}, 137295 (OMIN gene description ID), 614286 {Myelodysplastic syndrome, susceptibility to}, 601626 {Leukemia, acute myeloid, susceptibility to}
R-numbers: R15
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Immunodeficiency 21,614172, Monocytopenia and mycobacterial infection (MonoMAC), Congenital neutropenia, Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections, Monocytopenia with susceptibility to infections, Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema, Congenital defects of phagocyte number or function
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Emberger Syndrome 614038, {Myelodysplastic syndrome, susceptibility to} 614286