Lymphoedema_syndromic
Gene: GATA2
GATA2 (GATA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 14 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- Phenotypes
-
- {Myelodysplastic syndrome, susceptibility to} 614286
- Emberger Syndrome 614038
- OMIM
- 137295
- Clinvar variants
- Variants in GATA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Disorders of immune dysregulation
- Deafness_IsolatedAndComplex
- Fetal anomalies
- Additional findings_Paediatric
- Phagocyte Defects
- Mendeliome
- Lymphoedema_syndromic
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Hydrops fetalis
- Lymphoedema_nonsyndromic
- Interstitial Lung Disease
- Cancer Predisposition_Paediatric
History Filter Activity
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: GATA2 was added gene: GATA2 was added to Lymphoedema_syndromic. Sources: London South GLH,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA2 were set to 21892158 Phenotypes for gene: GATA2 were set to {Myelodysplastic syndrome, susceptibility to} 614286; Emberger Syndrome 614038