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Skeletal dysplasia

Gene: FOXC1

Red List (low evidence)
FOXC1 (forkhead box C1)
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association supported by case-level data and experimental data, including animal models.
Created: 6 Oct 2020, 9:39 p.m. | Last Modified: 6 Oct 2020, 9:41 p.m.
Panel Version: 0.4811

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Axenfeld-Rieger syndrome, type 3, MIM# 602482

Publications

Created: 6 Oct 2020, 9:39 p.m.
Last Modified: 6 Oct 2020, 9:41 p.m.
Panel version: Imported from Mendeliome panel version 0.4808

Eleanor Williams (Genomics England)

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, 3:55 p.m. | Last Modified: 6 Oct 2020, 3:55 p.m.
Panel Version: 0.4807

Phenotypes
eye and vascular development

Publications

Created: 6 Oct 2020, 3:55 p.m.
Last Modified: 6 Oct 2020, 3:55 p.m.
Panel version: Imported from Mendeliome panel version 0.4807

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXC1 was added gene: FOXC1 was added to Skeletal dysplasia. Sources: UKGTN,Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXC1 were set to 27193493