Skeletal dysplasia
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, 4:03 p.m. | Last Modified: 6 Oct 2020, 4:03 p.m.
Panel Version: 2.20
Publications
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 & 601631Created: 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.
Tier 3Created: 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
Publications for gene: FOXC1 were set to 27193493
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Publications for FOXC1 were set to 27193493
This gene has been classified as Red List (Low Evidence).
FOXC1 was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
This gene has been classified as Green List (High Evidence).
FOXC1 was created by anabeleza
FOXC1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list