Structural eye disease
Gene: FOXC1PMID: 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, 4:01 p.m. | Last Modified: 6 Oct 2020, 4:01 p.m.
Panel Version: 1.11
Publications
DB Nishimura et al. 1998: many unrelated cases with anterior segment disorders, many of which have missense variantsCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment dysgenesis 3, multiple subtypes 601631; Axenfeld-Rieger syndrome, type 3 602482
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Nishimura et al. 1998: many unrelated cases with anterior segment disorders, many of which have missense variantsCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment dysgenesis 3, multiple subtypes 601631; Axenfeld-Rieger syndrome, type 3 602482
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: FOXC1 were set to 12036988; 17210863; 9620769; 10713890; 11007653; 12614756
Source NHS GMS was added to FOXC1. Mode of pathogenicity for gene FOXC1 was changed from to Other - please provide details in the comments Added phenotypes Axenfeld-Rieger syndrome, type 3 602482; Anterior segment dysgenesis 3, multiple subtypes 601631 for gene: FOXC1 Publications for gene FOXC1 were changed from 9620769; 10713890; 12036988; 17210863; 12614756; 11007653 to 12036988; 17210863; 9620769; 10713890; 11007653; 12614756
gene: FOXC1 was added gene: FOXC1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXC1 were set to 9620769; 10713890; 12036988; 17210863; 12614756; 11007653 Phenotypes for gene: FOXC1 were set to Anterior segment dysgenesis 3, multiple subtypes 601631; Axenfeld-Rieger syndrome, type 3 602482