Sporadic aniridia
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, 3:57 p.m. | Last Modified: 6 Oct 2020, 3:57 p.m.
Panel Version: 2.4
Publications
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
Phenotypes for gene: FOXC1 were changed from to Aniridia, MONDO:0019172
Publications for gene: FOXC1 were set to 19279310; 25691405; 27124303
Publications for gene: FOXC1 were set to
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