Monogenic Diabetes
Gene: FOXC2EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 15 panels
1 review
Hali Van Niel (University of Melbourne)
Well established gene disease associated for Lymphedema-distichiasis syndrome
Unclear if monogenic association for diabetes mellitus
PMID 15523639: report 4/6 affected family members also present with T2DM
PMID 27349002: low FOXC2 protein expression level with patients with T2DM, PMID 11551504: mouse model for insulin resistanceCreated: 2 May 2024, 3:54 a.m. | Last Modified: 2 May 2024, 3:54 a.m.
Panel Version: 0.58
Mode of inheritance
Unknown
Phenotypes
lymphedema-distichiasis syndrome MONDO:0007922
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Phenotypes
-
- Lymphedema-distichiasis syndrome, 153400
- Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
- OMIM
- 602402
- Clinvar variants
- Variants in FOXC2
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FOXC2 was added gene: FOXC2 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FOXC2 was set to Unknown Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400