Several groups and resources provide information that pertains to the validity of gene-disease relationships; however, the standards and terminologies to define the evidence base for a gene’s role in disease are still evolving and the community is in need of trusted and harmonized sources that define the level of evidence for a gene’s role in disease. To tackle this issue, the Gene Curation Coalition (GenCC) was formed.
The Gene Curation Coalition brings together groups engaged in the evaluation of gene-disease validity with a willingness to share data publicly, to develop consistent terminology for gene curation activities and to facilitate the consistent assessment of genes that have been reported in association with disease.
Heidi Rehm
GenCC Co-Chair
ClinGen
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Marina DiStefano
GenCC Co-Chair
ClinGen
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Fowzan Alkuraya
King Faisal Specialist Hospital and Research Center
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Christina Austin-Tse
Broad CMG
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Marie Balzotti
Myriad Women's Health
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Elspeth Bruford
HGNC
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Alison Coffey
Illumina
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Yaron Einhorn
Franklin by Genoox
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Helen Firth
DECIPHER
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Ada Hamosh
OMIM
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Sarah Hunt
EMBL-EBI
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Yunyun Jiang
Invitae
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Teri Klein
PharmGKB
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Kalotina Machini
Laboratory for Molecular Medicine
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Kelly Radtke
Ambry
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Ana Rath
Orphanet
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Catherine Snow
Genomics England PanelApp
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Zornitza Stark
PanelApp Australia
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James Ware
Gene2Phenotype (G2P)
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The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.