Icon -

The GenCC Database and Marker Paper are Now Available

We are pleased to announce the launch of the Gene Curation Coalition (GenCC) Database (DB). The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases. Curated gene-disease relationships are submitted by GenCC member organizations. The GenCC comprises organizations that currently provide online resources (e.g. ClinGen, DECIPHER, Genomics England PanelApp, OMIM, Orphanet, PanelApp Australia, TGMI’s G2P), as well as diagnostic laboratories that have committed to sharing their internal curated gene-level knowledge (e.g. Ambry, Illumina, Invitae, Myriad Women’s Health, Mass General Brigham Laboratory for Molecular Medicine). Our Flagship manuscript, which describes the formation of the database and the standardization of gene disease validity terms is now available from Genetics in Medicine.
Click here to go to the GenCC DB
Click here to go to our published Flagship Manuscript

Our Members

16

Member Organizations
The GenCC organizations maintain resources that provide information pertaining to the validity of gene-disease relationships or curate this information as clinical testing laboratories. View GenCC Members

GenCC Projects

Gene Validity Term Delphi Survey

To harmonize terms describing gene-disease validity, the GenCC used a Delphi method to survey both members of our GenCC organizations and the international genetics community.

A short introductory video describing the survey can be found here

Terms that were agreed upon are “Definitive, Strong, Moderate, Limited, Disputed Evidence, Refuted Evidence, Animal Model Only, and No Known Disease Relationship”.

Read about our results in the ACMG abstract and the slides presented at CCG 2019.

All member groups will now use or map to relevant harmonized terms in their curation work.

News & Updates

Icon - Hgnc Stable Gene Symbols

HGNC partners with GenCC and is working to stabilize gene symbols

Changes to gene symbols can be confusing and disruptive, especially when that gene is associated to a known phenotype, and may have been quoted in many publications, listed in testing panels, or even be used by a patient support group. The HGNC, who assigns gene symbols and names to all human genes, is aware of the potential widespread impact symbol changes can have. GenCC is collaborating with the HGNC to ensure the long-term stability of gene symbols. Every gene with a curated disease association will be reviewed by the HGNC to check that there is nothing misleading, incorrect or offensive in the nomenclature. Any problematic gene symbols may be updated in line with revised HGNC guidelines, following consultation with the research community. After they have been reviewed gene symbols are marked as ‘stable’ on the HGNC website. It is hoped that some necessary change now will mean fewer changes in the future, as well as improved communication and data retrieval for everyone. HGNC have already stabilized the symbols of over 2000 genes and over 1000 of these have GenCC disease curations.
Icon - 6th Ga4gh Plenary

The GenCC hosts a workshop at the 6th GA4GH Plenary

GenCC members Heidi Rehm (ClinGen) and Ellen McDonagh (Genomics England) hosted a workshop about curating gene disease validity at the 6th Plenary for the Global Alliance For Genomic Health (GA4GH) on October 3, 2018 in Basel, Switzerland.
Icon - Acmg 2019

The GenCC presents at ACMG 2019

Marina DiStefano, on behalf of the GenCC, reported on the results of the Delphi survey at the 2019 ACMG Annual Clinical Genetics Meeting in Seattle, Washington on April 3, 2019 during the Laboratory Genetics and Genomics platform session.
Icon - International Society For Biocuration 2019

The GenCC hosts a workshop at the International Society for Biocuration 2019 Conference

GenCC members Ellen McDonagh (Genomics England), Rebecca Foulger (Genomics England), Marina DiStefano (ClinGen), and Antoine Marmignon (Orphanet) hosted a workshop about curating gene disease validity at the International Biocuration Society Conference on April 8, 2019 in Cambridge UK.