Disorders of immune dysregulation

Gene: GATA2

Green List (high evidence)

GATA2 (GATA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 14 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 8 GATA2 deficiency cases reported with hemophagocytic lymphohistiocytosis (HLH), a disorder of uncontrolled immune activation.
Sources: Expert list
Created: 29 Mar 2022, 3:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.

Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.

Less common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome'.

Over 20 unrelated individuals reported.
Created: 15 Jun 2021, 10:23 p.m. | Last Modified: 15 Jun 2021, 10:23 p.m.
Panel Version: 0.8034

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540

Publications

Details

Mode of Inheritance
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
OMIM
137295
Clinvar variants
Variants in GATA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GATA2.

29 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gata2 has been classified as Green List (High Evidence).

29 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gata2 has been classified as Green List (High Evidence).

29 Mar 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GATA2 was added gene: GATA2 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA2 were set to 26395816; 27169477; 29493060; 30564229; 31350183; 33410496; 33684095; 34040617 Phenotypes for gene: GATA2 were set to GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982) Review for gene: GATA2 was set to GREEN gene: GATA2 was marked as current diagnostic