Sporadic aniridia
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
2 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, 3:57 p.m. | Last Modified: 6 Oct 2020, 3:57 p.m.
Panel Version: 2.4
Publications
Morag Shanks (Oxford Medical Genetics laboratory)
PMID 27124303:131KB deletion identified in 2 unrelated patients 1 referred with non-syndromic aniridia and 1 with Gillespie syndrome. Two de novo missense variants identified in 2 pts with non-syndromic aniridia.Created: 20 Mar 2019, 5:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- Phenotypes
-
- Aniridia, MONDO:0019172
- OMIM
- 601090
- Clinvar variants
- Variants in FOXC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Unexplained kidney failure in young people
- DDG2P
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Unexplained young onset end-stage renal disease - additional genes
- Sporadic aniridia
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Familial cerebral small vessel disease
- Glaucoma (developmental)
- Skeletal dysplasia
- Anophthalmia or microphthalmia
- CAKUT
History Filter Activity
3 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FOXC1 were changed from to Aniridia, MONDO:0019172
6 Oct 2020, Gel status: 3
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: FOXC1 were set to 19279310; 25691405; 27124303
20 Mar 2019, Gel status: 4
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FOXC1 were set to
20 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: FOXC1 was added gene: FOXC1 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted