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The Gene Curation Coalition (GenCC) is a global collaborative effort to harmonize gene-disease validity curation across multiple expert organizations and clinical testing laboratories. GenCC brings together leading resources including ClinGen, OMIM, Orphanet, DECIPHER, Genomics England PanelApp, and multiple clinical diagnostic laboratories to standardize terminology and share gene-disease validity assertions publicly. The coalition was formed in 2018 to address the lack of universal standards and terminologies for defining gene-disease relationships used in genomic medicine and research. Through a modified Delphi survey involving the international genetics community, GenCC established consensus terminology for grading gene-disease validity, including standardized terms such as Definitive, Strong, Moderate, Limited, Disputed Evidence, Refuted Evidence, No Known Disease Relationship, and Animal Model Only. The GenCC database provides curated gene-disease validity assertions with a focus on monogenic Mendelian diseases, including information on mode of inheritance, classification confidence level, supporting evidence, and links to detailed curations from member organizations.
genomics
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infores:gencc
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| gencc.database | GenCC Database | search.thegencc.org | Product | http | The GenCC database containing over 15... |
| gencc.search_interface | GenCC Search Interface | search.thegencc.org | GraphicalInterface | http | Interactive web-based search and brow... |
| gencc.downloads | GenCC Data Downloads | download | Product | http | Freely available downloadable dataset... |
The Gene Curation Coalition (GenCC) is a groundbreaking international consortium formed to standardize and harmonize gene-disease validity curation across the genetics community. Established in February 2018 during a joint meeting of the Transforming Genetic Medicine Initiative and ClinGen at the Wellcome Trust in London, GenCC addresses a critical need in genomic medicine: the lack of consistent terminology and shared standards for evaluating gene-disease relationships.
With the increasing use of exome and genome sequencing in clinical practice, confidence in gene-disease associations has become more critical than ever. Unless a gene is convincingly linked to a disease, the pathogenicity of variants cannot be accurately interpreted. GenCC tackles this challenge by bringing together organizations engaged in gene-disease validity evaluation with a commitment to publicly share their curations, develop consistent terminology, and facilitate uniform assessment of genes reported in association with disease.
This resource has the Information Resource identifier: infores:gencc
GenCC comprises 17 leading organizations including public gene-level resources and diagnostic laboratories committed to sharing their internally curated gene-level knowledge:
Launched in December 2020, the GenCC database serves as the gene-level equivalent of ClinVar, but for gene-disease assertions rather than variant-disease assertions. The database provides:
All GenCC data are freely available under a CC0 1.0 Universal Public Domain Dedication through:
GenCC achieved consensus terminology through a three-round modified Delphi survey involving 241 responses from the international genetics community, including major professional societies (ESHG, ASHG, ACGS, BSGM). The resulting standardized terms enable consistent interpretation of gene-disease validity across clinical and research settings, reducing discrepancies that previously ranged from 5-13% across different resources.
GenCC actively facilitates resolution of gene-disease validity conflicts through monthly steering committee meetings and engagement with ClinGen Gene Curation Expert Panels. This collaborative approach improves consistency in genetic testing and variant interpretation globally.
GenCC is supported by the National Human Genome Research Institute (U24HG006834), Wellcome Trust, Medical Research Council (UK), British Heart Foundation, NIHR, Australian Genomics (NHMRC), and contributions from member organizations. The steering committee includes representatives from all member organizations and meets monthly to set standards and ensure the coalition meets its goals.
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases
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This resource has the Information Resource identifier: infores:gencc
Created: November 08, 2025 | Last modified: November 08, 2025