Meiges disease
Gene: FOXC2EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 13 panels
1 review
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
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- 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
- Intellectual disability
- Primary lymphoedema
- Monogenic diabetes
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Fetal hydrops
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Set publications
Sarah Leigh (Genomics England Curator)Publications for FOXC2 were set to 11078474
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FOXC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
panel promoted to version 1
Richard Scott (Genomics England Curator)Ready for version 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FOXC2 was added to Meiges diseasepanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)FOXC2 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen