This Panel is marked as Retired
Multiple Tumours
Gene: GATA2
GATA2 (GATA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Emberger Syndrome
- Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
- OMIM
- 137295
- Clinvar variants
- Variants in GATA2
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Inherited predisposition to acute myeloid leukaemia (AML)
- Primary lymphoedema
- Intellectual disability
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GATA2 was created by ellenmcdonagh