HFEgenet

HFEgenet is a collaborative research resource focused on the HFE gene and its network of iron regulation in humans. It serves as a database, a literature portal, and a platform for sharing genetic and clinical data related to HFE variants and their effects on iron metabolism.

Content includes a catalog of HFE variants, including well-known alleles such as C282Y and H63D, as well as rare coding and regulatory variants. The resource links variant data to associated phenotypes, including ferritin levels, transferrin saturation, and diagnoses of hereditary hemochromatosis. Population frequency data and haplotype context are provided to support penetrance estimates and population genetics studies. Where available, functional data from biochemical assays or model systems are incorporated, along with annotations from standard nomenclatures (for example HGVS).

Tools and access: HFEgenet offers a web interface for searching genes, variants, or phenotypes, and a genome-browser-like view of the HFE locus. Programmatic access through an API enables data download and integration with external analysis pipelines. Data are described with interoperable identifiers and linked to related resources in public databases.

Governance and licensing: The project is maintained by a multidisciplinary consortium and relies on community contribution with quality control checks. Data are shared under an open-access license to support research and clinical interpretation while respecting privacy and ethical guidelines. The resource adheres to standard data formats and nomenclature to promote interoperability with ClinVar, dbSNP, and other genetic databases.

Impact: By aggregating variant, phenotype, and functional data, HFEgenet aims to improve understanding of HFE-related iron overload, support genotype-phenotype analyses, and aid clinicians in interpreting test results in the context of patient iron studies.