FOXF1

Chr 16AD

forkhead box F1

Also known as: ACDMPV, FKHL5, FREAC1

NCBI Gene: 2294 ENSG00000103241 UniProt: Q12946 OMIM: 601089

FOXF1 encodes a forkhead transcription factor that activates lung-specific genes and regulates pulmonary development. Mutations cause alveolar capillary dysplasia with misalignment of pulmonary veins, a severe neonatal respiratory disorder with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.30), reflecting its critical role in pulmonary vascular development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Alveolar capillary dysplasia with misalignment of pulmonary veinsMIM #265380

Clinical highlights

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

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· G2P