PanelAppRex aggregates disease gene panels and facilitates sophisticated search

Gene panel data are essential for variant interpretation and genomic diagnostics, but existing resources are fragmented, inconsistently annotated, and not easily accessible for programmatic use. We present PanelAppRex, a har-monised dataset and interactive search tool that integrates over 58,000 curated gene-disease panel associations, including NHS-approved diagnostic panels. It supports natural language-style queries by gene, phenotype, disease group, and mode of inheritance (MOI), with results returned in machine-readable export formats. In benchmarked case studies of immune disease diagnostics, the system achieved 100% accuracy in identifying the most relevant gene panel. The underlying dataset includes standardised gene identifiers, disease annotations, MOI, and literature support, enabling seamless integration into bioinformatic pipelines. Beyond search, PanelAppRex establishes a structured foundation for modelling genome-wide diagnostic priors and supporting evidence-aware variant interpretation.