This Panel is marked as Internal
Anaemias and red cell disorders
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
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric; Congenital dyserythropoietic anemia (CDA)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies
- 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
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen GATA2 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
22 Jul 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GATA2 was created by ellenmcdonagh