This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies
- Familial MDS (Myelodysplastic syndromes)
- OMIM
- 137295
- Clinvar variants
- Variants in GATA2
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Intellectual disability
- Primary lymphoedema
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
19 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GATA2 was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN