GATA2

GATA binding protein 2
OMIM: 137295, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green GATA2 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green 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 GATA2 in COVID-19 research Level 2: Viral research Version 1.146	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema Congenital neutropenia Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections Immunodeficiency 21,614172 Congenital defects of phagocyte number or function Monocytopenia and mycobacterial infection (MonoMAC) Monocytopenia with susceptibility to infections
Green GATA2 in Inherited predisposition to acute myeloid leukaemia (AML) Level 2: Haematology Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green North West GLH Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH Phenotypes {Leukemia, acute myeloid, susceptibility to}, OMIM:601626 {Myelodysplastic syndrome, susceptibility to}, OMIM:614286 Emberger syndrome, OMIM:614038
Green GATA2 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 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 GATA2 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Expert list Phenotypes 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) Tags somatic
Green GATA2 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Curated sources 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 GATA2 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH 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 GATA2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes EMBERGER SYNDROME
Green GATA2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EMBERGER SYNDROME 614038
Red GATA2 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Immunodeficiency 21, 614172 Emberger syndrome, 614038 {Myelodysplastic syndrome, susceptibility to}, 614286 {Leukemia, acute myeloid, susceptibility to}, 601626
Green GATA2 in Primary lymphoedema Level 2: Cardiology Version 4.21 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London South GLH Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Emberger Syndrome 614038 {Myelodysplastic syndrome, susceptibility to} 614286