Primary lymphoedema

Gene: VEGFC

Green List (high evidence)

VEGFC (vascular endothelial growth factor C)
EnsemblGeneIds (GRCh38): ENSG00000150630
EnsemblGeneIds (GRCh37): ENSG00000150630
OMIM: 601528, Gene2Phenotype
VEGFC is in 1 panel

4 reviews

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital Primary Lymphoedema of Gordon; Lymphatic malformation 4 615907

Publications

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
Primary lymphoedema; Milroy like disease

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Two variants reported, in addition to supportive animal studies
Created: 2 Nov 2016, 11:07 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)
OMIM
601528
Clinvar variants
Variants in VEGFC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Jul 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: VEGFC were set to 23410910; 24744435; 14634646

23 Jul 2019, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene VEGFC was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to VEGFC. 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 publications

Sarah Leigh (Genomics England Curator)

Publications for VEGFC were set to 23410910; 24744435; 14634646

2 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for VEGFC were set to Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)

2 Nov 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for VEGFC were set to 23410910; 24744435

2 Nov 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for VEGFC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

VEGFC was added to Lymphatic Disorderspanel. Sources: Expert list,Expert Review Green

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

VEGFC was created by sleigh