PanelAppRex base

Gene panel data is critical for variant interpretation and genomic diagnostics, yet existing resources remain fragmented, inconsistently annotated, and difficult to interrogate programmatically. We present PanelAppRex, a harmonised resource and interactive search platform integrating 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), returning machine-readable results in multiple export formats. The system achieved 100% top-panel accuracy in benchmarked case studies of genetic immune disease diagnosis. The core dataset includes stan- dardised gene identifiers, disease annotations, MOI, and supporting literature, enabling integration into bioinformatic pipelines. Beyond interactive search, PanelAppRex provides a structured foundation for modelling genome-wide diagnostic priors and evidence-aware variant interpretation.