Status Build Coordinates Evidence Comments
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Please use this form to submit cases where TAD disruption may be of clinical relevance. These cases can either be from publicly available peer-reviewed publications or your own clinical cases of interest.
  • If submitting a case from a publication, please include the PubMed ID.
  • If submitting a clinical case, please include information about genetic testing that has been performed.
  • Do not submit protected health information.
  • hg18 / NCBI36
  • hg19 / GRCh37
  • hg38 / GRCh38
    Evidence for Case:

    Case Information

    Submitted By:
    PubMed IDs:

    Cases Page Help

    Cases Tab

    The Cases tab contains a list of research and clinical cases that may demonstrate phenotypes due to disruption of TADs or other non-coding elements. Cases can be sorted by clicking on the arrow for each column. Cases can be filtered by clicking on the title of each column (optional), entering text to search for in the Filter form, and then pressing enter.

    Cases have the following properties
    • Status: cases are "Pending" after submitted by users and "Confirmed" after review by a moderator
    • Evidence: the evidence supporting pathogenicity
    • Submitter: the user who submitted the case to ClinTAD
    • Build: the genome build for the case's coordinates
    • Coordinates: the chromosome and breakpoints for the CNV
    • Phenotypes: a list of HPO terms for the patient/subject associated with the case
    • Comments: submitters can enter other important details here

    Create Case Tab

    Registered users can submit cases on this page.