Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: FOXC2
FOXC2 (forkhead box C2)
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 13 panels
1 review
Sian Ellard (University of Exeter Medical School)
Details
- Sources
-
- Expert Review Red
- 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
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Rare genetic inflammatory skin disorders
- Vascular skin disorders
- Unexplained kidney failure in young people
- DDG2P
- Clefting
- Fetal hydrops
- Fetal anomalies
- Primary lymphoedema
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
- CAKUT
History Filter Activity
25 Jul 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
22 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
17 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FOXC2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen