PanelApp
  1. Genes and Genomic Entities
  2. GATA2

GATA2

GATA binding protein 2
OMIM: 137295, ClinGen, DECIPHER

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green GATA2 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MDS, AML, CMML
  • No other known cancer risks
  • Class: familial predisp to leukaemia (typ AD)
  • Monocytopenia and mycobacterial infection syndrome, Emberger syndrome, immune deficiencies
  • Familial AML with mutated GATA2, GATA2-spectrum disorders

Green GATA2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
    Tags
    • treatable

    Amber GATA2 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Emberger syndrome, MIM# 614038

    Green GATA2 in Mendeliome


    Version 2.588

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
    Tags
    • treatable

    Green GATA2 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.2

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Leukemia, acute myeloid, susceptibility to}, MIM# 601626

    Green GATA2 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 2.5

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 21, MIM# 614172
    • MONDO:0042982
    • Emberger syndrome, MIM# 614038
    • MONDO:0013540
    • chILD, childhood pulmonary alveolar proteinosis
    Tags
    • treatable

    Green GATA2 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.11

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982

    Green GATA2 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 2.11

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982)
    Tags
    • treatable

    Green GATA2 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 2.3

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Emberger syndrome, MIM# 614038

    Green GATA2 in Lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 1.0

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    Phenotypes
    • {Myelodysplastic syndrome, susceptibility to} 614286
    • Emberger Syndrome 614038

    Green GATA2 in Additional findings_Paediatric


    Level 2: Screening
    Version 1.1

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 21 MIM# 614172
    • Emberger syndrome MIM# 614038

    Amber GATA2 in Fetal anomalies


    Version 2.81

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Emberger syndrome, MIM# 614038

    Green GATA2 in IBMDx study


    Version 1.2

    		1 review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
    • Immunodeficiency 21, MIM# 614172
    • Emberger syndrome, MIM# 614038
    • Deafness-lymphoedema-leukaemia syndrome MONDO:0013540

    Green GATA2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 21 MIM# 614172
    • Emberger syndrome MIM# 614038
    Tags
    • treatable
    • haematological
    • deafness