Glaucoma (developmental)
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, 3:55 p.m. | Last Modified: 6 Oct 2020, 3:55 p.m.
Panel Version: 1.8
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
Comment on list classification: Feedback from Arianna Tucci: the phenotype includes glaucoma so suitable to add to the panel.Created: 26 Apr 2017, 8:39 a.m.
Comment on list classification: Enough evidence associated with the given diseases (see phenotypes), however glaucoma may not be a feature in all patients therefore unsure whether this should be green on this panel.Created: 12 Apr 2017, 2:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rieger or Axenfeld anomalies; Iris hypoplasia and glaucoma
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: FOXC1 were set to 9620769; 12614756; 10713890; 11007653; 12036988; 17210863
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FOXC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for FOXC1 were set to Axenfeld-Rieger syndrome, type 3 602482;Anterior segment dysgenesis 3, multiple subtypes 601631
Phenotypes for FOXC1 were set to Axenfeld-Rieger syndrome, type 3 602482
Publications for FOXC1 were set to 9620769; 12614756; 10713890; 11007653; 12036988;17210863
Publications for FOXC1 were set to 9620769; 12614756; 10713890; 11007653;12036988
Publications for FOXC1 were set to 9620769; 12614756; 10713890;11007653
Publications for FOXC1 were set to 9620769; 12614756;10713890
Publications for FOXC1 were set to 9620769;12614756
This gene has been classified as Amber List (Moderate Evidence).
FOXC1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory