About

Why is the GenCC needed?

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.

The goals of the GenCC are as follows:

  • Clarify the overlap between gene curation efforts
  • Understand the aims, processes, information used, classification systems, and users of the different curation efforts
  • Develop consistent terminology for validity assessment as well as inheritance, allelic requirement, and mechanism of disease
  • Collaborate on gene curation projects

Steering Committee

  • Heidi Rehm

    GenCC Co-Chair
    ClinGen
  • Marina DiStefano

    GenCC Co-Chair
    ClinGen
  • Fowzan Alkuraya

    King Faisal Specialist Hospital and Research Center
  • Christina Austin-Tse

    Laboratory for Molecular Medicine (LMM)
  • Marie Balzotti

    Myriad Women's Health
  • Elspeth Bruford

    HGNC
  • Alison Coffey

    Illumina
  • Heather Collins

    Medline Plus Genetics, National Library of Medicine
  • Fiona Cunningham

    EMBL-EBI
  • Yaron Einhorn

    Franklin by Genoox
  • Helen Firth

    DECIPHER
  • Ada Hamosh

    OMIM
  • Teri Klein

    PharmGKB
  • Kelly Radtke

    Ambry
  • Ana Rath

    Orphanet
  • Catherine Snow

    Genomics England PanelApp
  • Zornitza Stark

    PanelApp Australia
  • Jackie Tahiliani

    Invitae
  • James Ware

    Gene2Phenotype (G2P) from TGMI