Structural eye disease

Gene: FOXC1

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, 4:01 p.m. | Last Modified: 6 Oct 2020, 4:01 p.m.

Panel Version: 1.11

Publications

• 32720677

Green List (high evidence)

DB Nishimura et al. 1998: many unrelated cases with anterior segment disorders, many of which have missense variants

Created: 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

• 9620769
• 10713890
• 12036988
• 17210863
• 12614756
• 11007653

Mode of pathogenicity
Other - please provide details in the comments

Green List (high evidence)

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 variants

Created: 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

• 9620769
• 10713890
• 12036988
• 17210863
• 12614756
• 11007653

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice