Anophthalmia or microphthalmia
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 p.m. | Last Modified: 6 Oct 2020, 4 p.m.
Panel Version: 1.28
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Known expert review and lit evidence: http://www.ncbi.nlm.nih.gov/pubmed/19626132Created: 10 May 2016, noon
Publications for gene: FOXC1 were set to
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FOXC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
FOXC1 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory