Introduction

Rare Disease Genes is a global interactive resource for gene locus-specific databases for selected rare genetic conditions. Among rare diseases, advances in high throughput genetic testing technologies reveal a growing number of genetic insights. Data fragmentation, lack of associated evidence, and the low frequency, diversity, and complexity of variants pose major challenges to providing a timely and accurate diagnosis of rare disease. The Rare Disease Genes databases provide aggregate data about gene variants including variant descriptions, number of observations of a variant or genotype, publications, phenotypes and key biochemical findings (as available for some databases).

Through systematic review and curation of published literature and laboratory classified variants, these databases provide a repository of gene variant data. This resource is intended for clinicians, scientists, and stakeholders in the rare disease community.

For more information on definitions, HGVS nomenclature, and variant classification click here.

Aims

• Provide an openly available and interactive resource to the greater scientific and rare disease communities​
• Encourage reporting of rare disease variants to ensure that high quality data is made available for improved variant-disease understanding

Scope

These dynamic, searchable databases include:

• Gene variant annotations with frequency, classification and impact​
• Variants and genotypes with associated disease, PubMed reference numbers (PMIDs), biochemical, and phenotype-related data, as available
• Geographical distribution of variants and genotypes

Data Source & Sharing

Data on the Rare Disease Genes site has three main sources: Comprehensive published literature reviews for variants in genes of interest; data from clinical studies & sponsored testing programs; data from external contributors. To contribute data, click here. Data from external contributors is reviewed and curated by disease and gene-specific advisory committees before it is published. External laboratory data may be published without additional review.
Rare Disease Genes aims to submit data to public data repositories, including ClinVar & LOVD following review.

Frequently Asked Questions

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