Genomics England

GATA2

GATA binding protein 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	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 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EMBERGER SYNDROME 614038
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EMBERGER SYNDROME
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	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
Green in Inherited predisposition to acute myeloid leukaemia (AML) R-numbers: R347 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes {Leukemia, acute myeloid, susceptibility to}, OMIM:601626, {Myelodysplastic syndrome, susceptibility to}, OMIM:614286, Emberger syndrome, OMIM:614038
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	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
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Emberger Syndrome 614038, {Myelodysplastic syndrome, susceptibility to} 614286