This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
Gene: FOXC1
FOXC1 (forkhead box C1)
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 15 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Red
- Phenotypes
-
- Axenfeld-Rieger syndrome, type 3, MIM#602482
- OMIM
- 601090
- Clinvar variants
- Variants in FOXC1
- Penetrance
- None
- Panels with this gene
-
- CAKUT
- Monogenic hearing loss
- Structural eye disease
- Skeletal dysplasia
- Retinal disorders
- Unexplained kidney failure in young people
- Sporadic aniridia
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Familial cerebral small vessel disease
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
History Filter Activity
28 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FOXC1 was added gene: FOXC1 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Red,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: FOXC1 was set to Unknown Phenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome, type 3, MIM#602482