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Haematological malignancies cancer susceptibility

Gene: GATA2

Green List (high evidence)
GATA2 (GATA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 11 panels

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 26 Jul 2017, 11:14 a.m.

Panel version: 0.8

Details

Mode of Inheritance
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
OMIM
137295
Clinvar variants
Variants in GATA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Sep 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

30 Jan 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to GATA2. Panel: Haematological malignancies pertinent cancer susceptibility

21 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA2 was added to Haematological malignanciespanel. Sources: Curated sources

21 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GATA2 was created by ellenmcdonagh