Skeletal dysplasia

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, 4:03 p.m. | Last Modified: 6 Oct 2020, 4:03 p.m.

Panel Version: 2.20

Publications

• 32720677

Comment when marking as ready: Associated with non-relevant phenotypes in G2P and OMIM, although listed on UKGTN Skeletal dysplasia 222 Gene Exome Panel. Numerous variants reported in phenotypes 602482 & 601631

Created: 7 Jul 2016, 8:46 a.m.

Comment on list classification: Tier 3 gene for skeletal dysplasia (Ana Beleza). Evidence of involvement in skeletal dysplasia based on mouse model paper (PMID 27193493)

Created: 7 Jul 2016, 8:41 a.m.

Green List (high evidence)

Tier 3

Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Axenfeld-Rieger syndrome, type 3 602482; Iridogoniodysgenesis, type 1 601631; Iris hypoplasia and glaucoma 601631; Motojima M et al. Characterization of Kidney and Skeleton Phenotypes of Mice Double Heterozygous for Foxc1 and Foxc2.Cells Tissues Organs. 2016, 201(5):380-9

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