Lymphoedema_nonsyndromic
Gene: VEGFC

VEGFC (vascular endothelial growth factor C)
EnsemblGeneIds (GRCh38): ENSG00000150630
EnsemblGeneIds (GRCh37): ENSG00000150630
OMIM: 601528, Gene2Phenotype
VEGFC is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 23410910 - het PTC segregated with disease in a family (7 affecteds) (Milroy-like primary lymphedema), supported by zebrafish model. HEK293 cells transfected with PTC show no protein in cell supernatant, suggesting secreted protein is highly impaired.

PMID: 24744435 - het PTC in a newborn with milroy-like disease, segregated with disease in a family (3 affecteds).

PMID: 30071673 - c.361+5G>A splice variant in a patient with bilateral congenital pedal edema resembling Milroy disease. Splice proven to result in an NMD-predicted variant, supported by zebrafish model.
Created: 23 Dec 2020, 8:43 a.m. | Last Modified: 23 Dec 2020, 8:43 a.m.

Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphatic malformation 4, MIM#615907

Publications

Created: 23 Dec 2020, 8:43 a.m.
Last Modified: 23 Dec 2020, 8:43 a.m.
Panel version: 0.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Lymphatic malformation 4, MIM#615907

OMIM

601528

Clinvar variants

Variants in VEGFC

Penetrance

None

Publications

Panels with this gene