Kidneyome_SuperPanel_KidGen_VCGS
Gene: FOXC1EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 15 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- KidGen_CilioNephronop v38.1.0
- OMIM
- 601090
- Clinvar variants
- Variants in FOXC1
- Penetrance
- None
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- Retinal disorders
- CAKUT
- Anophthalmia or microphthalmia
- Intellectual disability
- Monogenic hearing loss
- Unexplained kidney failure in young people
- Sporadic aniridia
- DDG2P
- Unexplained young onset end-stage renal disease - additional genes
- Bilateral congenital or childhood onset cataracts
- Familial cerebral small vessel disease
- Skeletal dysplasia
- Glaucoma (developmental)
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to FOXC1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to FOXC1. Source Victorian Clinical Genetics Services was added to FOXC1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: FOXC1 was added gene: FOXC1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green Mode of inheritance for gene: FOXC1 was set to Unknown