Primary lymphoedema
Gene: GATA2EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 11 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Emberger syndrome (Primary Lymphedema with Myelodysplasia) 614038Created: 19 Jun 2019, 3:58 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 5 variants reported.Created: 2 Nov 2016, 10:35 a.m.
Comment on phenotypes: Also associated with Immunodeficiency 21 614172, {Leukemia, acute myeloid, susceptibility to} 601626, {Myelodysplastic syndrome, susceptibility to} 614286Created: 2 Nov 2016, 10:28 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Emberger Syndrome 614038
- {Myelodysplastic syndrome, susceptibility to} 614286
- OMIM
- 137295
- Clinvar variants
- Variants in GATA2
- Penetrance
- Complete
- Publications
- 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 Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GATA2 were changed from Primary Lymphedema with Myelodysplasia (Emberger Syndrome) 614038 to Emberger Syndrome 614038; {Myelodysplastic syndrome, susceptibility to} 614286
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to GATA2. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GATA2 were set to Primary Lymphedema with Myelodysplasia (Emberger Syndrome) 614038
Set publications
Sarah Leigh (Genomics England Curator)Publications for GATA2 were set to 21892158
Added New Source
Sarah Leigh (Genomics England Curator)GATA2 was added to Lymphatic Disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)GATA2 was created by sleigh