Primary lymphoedema
Gene: VEGFC
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.
Phenotypes
Primary lymphoedema; Milroy like disease
Publications
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Two variants reported, in addition to supportive animal studiesCreated: 2 Nov 2016, 11:07 a.m.
Publications for gene: VEGFC were set to 23410910; 24744435; 14634646
Mode of inheritance for gene VEGFC was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source London South GLH was added to VEGFC. 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).
Publications for VEGFC were set to 23410910; 24744435; 14634646
Phenotypes for VEGFC were set to Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)
Publications for VEGFC were set to 23410910; 24744435
Mode of inheritance for VEGFC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
VEGFC was added to Lymphatic Disorderspanel. Sources: Expert list,Expert Review Green
VEGFC was created by sleigh