Early onset pancytopenia and red cell disorders
Gene: GATA2EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Familial MDS (Myelodysplastic syndromes)
- Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172
- Emberger syndrome, 614038
- {Myelodysplastic syndrome, susceptibility to}, 614286
- {Leukemia, acute myeloid, susceptibility to}, 601626
- Primary Lymphedema with Myelodysplasia
- Immunodeficiency 21
- Leukemia, Acute Myeloid
- Lymphedema, Primary, With Myelodysplasia
- Myelodysplastic Syndrome
- Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency
- OMIM
- 137295
- Clinvar variants
- Variants in GATA2
- Penetrance
- Complete
- Panels with this gene
-
- Primary lymphoedema
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Fetal anomalies
- COVID-19 research
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list