Lymphoedema_syndromic
Gene: FOXC2
FOXC2 (forkhead box C2)
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 15 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- Expert Review Green
- UKGTN
- Eligibility statement prior genetic testing
- 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
- None
- Publications
- Panels with this gene
-
- Clefting disorders
- Monogenic Diabetes
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Lymphoedema_nonsyndromic
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Pierre Robin Sequence
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Eye Anterior Segment Abnormalities
- Congenital diaphragmatic hernia
- Interstitial Lung Disease
History Filter Activity
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: FOXC2 was added gene: FOXC2 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,London South GLH Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXC2 were set to 11078474 Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400