GATA2

GATA binding protein 2
OMIM: 137295, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green GATA2 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

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 1.69

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)


Version 1.4
Signed off v.1.2 on 3 Mar 2020

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
  • 601626 {Leukemia, acute myeloid, susceptibility to}
  • 137295 (OMIN gene description ID)
  • 614286 {Myelodysplastic syndrome, susceptibility to}
  • 601626 {Leukemia, acute myeloid, susceptibility to}

Green GATA2 in Primary immunodeficiency


Version 2.369
Signed off v.2.1 on 24 Feb 2020

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 1.78

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • 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 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.5
Signed off v.2.2 on 18 Feb 2020

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


Version 1.30
Signed off v.1.29 on 15 Oct 2020

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


Version 1.115
Signed off v.1.92 on 21 Aug 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EMBERGER SYNDROME

Green GATA2 in DDG2P


Version 2.12
Signed off v.2.2 on 13 Feb 2020

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.565
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.6
    Signed off v.2.2 on 2 Mar 2020

    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

    Green GATA2 in Severe Paediatric Disorders


    Version 1.19

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 21, 614172
    • Emberger syndrome, 614038