Primary lymphoedema

Gene: GATA2

Green List (high evidence)

GATA2 (GATA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 12 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

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.

Pia Ostergaard (St George's)

Green List (high evidence)

Phenotypes
Emberger Syndrome

Publications

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Emberger syndrome (Primary Lymphedema with Myelodysplasia) 614038
Created: 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} 614286
Created: 2 Nov 2016, 10:28 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • 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

History Filter Activity

19 Jun 2019, Gel status: 4

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

20 Feb 2019, Gel status: 3

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)

2 Nov 2016, Gel status: 4

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

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GATA2 were set to Primary Lymphedema with Myelodysplasia (Emberger Syndrome) 614038

2 Nov 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GATA2 were set to 21892158

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GATA2 was added to Lymphatic Disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GATA2 was created by sleigh