Primary lymphoedema
Gene: FOXC2EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Primary lymphoedema; Lymphoedema distichiasis syndrome
Publications
- [PMID: 11078474]
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- Eligibility statement prior genetic testing
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Phenotypes
-
- Lymphedema-distichiasis syndrome, 153400
- Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
- OMIM
- 602402
- Clinvar variants
- Variants in FOXC2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Rare genetic inflammatory skin disorders
- CAKUT
- Vascular skin disorders
- Unexplained kidney failure in young people
- Monogenic diabetes
- Intellectual disability
- Primary lymphoedema
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Fetal hydrops
History Filter Activity
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to FOXC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Upload gene information
Ellen McDonagh (Genomics England Curator)FOXC2 was added to Lymphatic Disorderspanel. Sources: Eligibility statement prior genetic testing
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
Added New Source
Sarah Leigh (Genomics England Curator)FOXC2 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)FOXC2 was created by sleigh