• WHY an online gene table?

In printed format the gene table (established in 1991) has reached a degree of complexity, which makes it increasingly difficult to maintain, to revise and to consult. This is due to the accumulation of new morbid loci, and ultimately of new disease genes. In addition, the simplistic equations 1 disease =1 gene, and 1 gene = 1 disease are no longer tenable, because of two concurrent phenomena:

      1. phenotypic convergence (1 disease = several genes, ex: Charcot -Marie -Tooth, etc.);
      2. phenotypic divergence (1 gene = several diseases, ex: lamin A/C)
  • WHAT is the online gene table?

Basically it is identical to the printed gene table PLUS interactivity, within the table (the different items are crossreferenced), and outside the table with instantaneous links to

    • Leiden Muscular Dystrophy = muscle-specific database, including mutations
    • OMIM = general genetic disease database
    • NCBI = general official repository of genome and gene sequences and all related links
    • Genatlas = molecular medicine database

Disclaimer

The online gene table is neither a comprehensive encyclopedia where you would find anything you wanted to know about your favorite disease, nor a tool to obtain a synthetic synopsis of a specific gene or disease. On the other hand, the curators are not responsible for the information provided by the linked databases.

  • How to use it?

Searching (user friendly) by any of the following:

    • Disease group : 16 categories as in the printed version
        1. Muscular dystrophies
        2. Congenital muscular dystrophies
        3. Congenital myopathies
        4. Distal myopathies
        5. Other myopathies
        6. Myotonic syndromes
        7. Ion channel muscle diseases
        8. Malignant hyperthermias
        9. Metabolic myopathies
        10. Hereditary cardiomyopathies
        11. Congenital myasthenic syndromes
        12. Spinal muscular atrophies
        13. Hereditary ataxias
        14. Hereditary motor and sensory neuropathies
        15. Hereditary paraplegias
        16. Other neuromuscular disorders
    • Disease
    • Gene
    • Gene product
    • Search (any word possibly present in the table)
  • How is the online gene table maintained?

The table is prepared and maintained by JC Kaplan (Paris) who update, make corrections and validate any suggestion incoming from the scientific community. The updatings are prepared in Excel format (Microsoft) and mailed to Dalil Hamroun and Christophe Béroud (Montpellier) who incorporate these informations into the gene table database developed with the 4D software, and create useful links to other databases.