Primary lymphoedema
Gene: GATA2
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.
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.
Phenotypes for gene: GATA2 were changed from Primary Lymphedema with Myelodysplasia (Emberger Syndrome) 614038 to Emberger Syndrome 614038; {Myelodysplastic syndrome, susceptibility to} 614286
Source London South GLH was added to GATA2. Rating Changed from Green List (high evidence) to Green List (high evidence)
A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for GATA2 were set to Primary Lymphedema with Myelodysplasia (Emberger Syndrome) 614038
Publications for GATA2 were set to 21892158
GATA2 was added to Lymphatic Disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green
GATA2 was created by sleigh