Bilateral congenital or childhood onset cataracts
Gene: FOXC1EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 15 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: No evidence of cataracts with this gene.Created: 7 Jun 2016, 1:03 p.m.
Sarah Waller (Manchester Centre for Genomic Medicine)
Publications
- Many for Axenfield-Rieger syndrome, Peters anomaly
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Axenfield-rieger syndrome type 3, iridogoniodysgenesis anomaly, Peters Anomaly, though these diseases don't seem to involve a cataract phenotype.Created: 29 Apr 2016, 11:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Axenfeld-Rieger syndrome type 3
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Axenfeld-Rieger syndrome type 3
- OMIM
- 601090
- Clinvar variants
- Variants in FOXC1
- Penetrance
- Complete
- Publications
-
- Many for Axenfield-Rieger syndrome, Peters anomaly
- 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
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FOXC1 were set to Axenfeld-Rieger syndrome type 3
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FOXC1 were set to Many for Axenfield-Rieger syndrome, Peters anomaly
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FOXC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()FOXC1 was added to Cataractspanel. Sources: UKGTN