Anophthalmia or microphthalmia
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
3 reviews
Eleanor Williams (Genomics England Curator)
PMID: 32720677 - Ferre-Fernández et al 2020 - zebrafish knockout lines with combinations of the two orthologs of FOXC1 in zebrafish, foxc1a and foxc1b. 3 phenotypes:
1. foxc1a−/− single knockout homozygous embryos and foxc1−/− double knockout homozygous embryos - severe global vascular defects and early lethality, as well as microphthalmia, periocular edema and absence of the anterior chamber of the eye
2. fish with heterozygous loss of foxc1a combined with homozygosity for foxc1b (foxc1a+/−;foxc1b−/−) demonstrated craniofacial defects, heart anomalies and scoliosis
3. All other single and combined genotypes appeared normal.Created: 6 Oct 2020, 4 p.m. | Last Modified: 6 Oct 2020, 4 p.m.
Panel Version: 1.28
Publications
David FitzPatrick (University of Edinburgh)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expert review and lit evidence: http://www.ncbi.nlm.nih.gov/pubmed/19626132Created: 10 May 2016, noon
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- OMIM
- 601090
- Clinvar variants
- Variants in FOXC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Unexplained young onset end-stage renal disease - additional genes
- Sporadic aniridia
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Familial cerebral small vessel disease
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
- Intellectual disability
- CAKUT
History Filter Activity
6 Oct 2020, Gel status: 3
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: FOXC1 were set to
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for FOXC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()FOXC1 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory