FOXC1

Chr 6

forkhead box C1

Also known as: ARA, ASGD3, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1

NCBI Gene: 2296 ENSG00000054598 UniProt: Q12948

FOXC1 encodes a forkhead transcription factor that regulates embryonic development of the eye, bone, cardiovascular system, kidney, and skin by binding to specific DNA sequences and controlling target gene expression. Mutations cause autosomal dominant ocular malformations including primary congenital glaucoma, Axenfeld-Rieger anomaly, and iridogoniodysgenesis anomaly. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAxenfeld-Rieger syndrome 3

UniProtAnterior segment dysgenesis 3

Clinical highlights

Gene-disease validity (ClinGen)

FOXC1-related anterior segment dysgenesis · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

155

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)