Kidneyome_SuperPanel_VCGS
Gene: FOXC2EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- OMIM #153400
- Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
- OMIM
- 602402
- Clinvar variants
- Variants in FOXC2
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FOXC2 was added gene: FOXC2 was added to Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXC2 were set to 15523639 Phenotypes for gene: FOXC2 were set to OMIM #153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus