The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources

Abstract

PurposeWith exome sequencing now standard, diagnostic labs are in need of a, in principle, to-the-day-accurate list of genes associated with rare diseases. Manual curation efforts are slow and often disease specific, while efforts relying on single sources are too inaccurate and may result in false-positive or false-negative genes. MethodsWe established the MorbidGenes panel based on a list of publicly available databases: OMIM, PanelApp, SysNDD, ClinVar, HGMD and GenCC. A simple logic allows inclusion of genes that are supported by at least one of these sources, providing a list of all genes with diagnostic relevance. ResultsThe panel is freely available at https://morbidgenes.uni-leipzig.de and currently includes 4960 genes (as of March 2024) with minimally sufficient evidence on disease causality to classify them as diagnostically relevant. ConclusionThe MorbidGenes panel is an open and comprehensive overview of diagnostically relevant rare disease genes based on a diverse set of resources. The panel is updated monthly to keep up with the ever increasing number of rare disease genes.