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 16 panels

1 review

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

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