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Childhood interstitial lung disease

Gene: GATA2

Green List (high evidence)
GATA2 (GATA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 12 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

GATA2 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #614172) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 21, OMIM:614172; monocytopenia with susceptibility to infections, MONDO:0013607

Created: 30 Dec 2025, 7:22 p.m.
Last Modified: 30 Dec 2025, 7:22 p.m.
Panel version: 0.5

History Filter Activity

30 Dec 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GATA2 was added gene: GATA2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA2 were set to Immunodeficiency 21, OMIM:614172; monocytopenia with susceptibility to infections, MONDO:0013607