We created map-based tools for querying the effects of chromosome 18 deletions or duplications. These maps annotate the individual genes and regions of the chromosome with clinical relevance when either duplicated or deleted. As the clinical effects are due to abnormal gene dosage, we are referring to these tools as gene dosage maps. These gene dosage maps have been created as sets of genome annotation “tracks” on the UC Santa Cruz Genome Browser.

There are two sets of maps. The first set is more scientifically oriented and displays the genes and phenotype regions based on their chromosomal location with links to information about their potential role in generating an abnormal phenotype. The second set are for those users just interested in the potential clinical effects of a given chromosome region.

Scientific Maps: This set of tracks includes two types of maps.

  • Phenotype Maps: This track indicates the locations of the regions for specific phenotypic features that are linked to a region of chromosome 18 but for which the causative gene has not yet been identified. By clicking on the gene the user is taken to the details pages with supporting data. Link to Genome Browser page:

Clinical Maps: This set of maps is intended for users who want information on the potential clinical effects of a copy number variation for a specific chromosome 18 region and are less interested in the genes and molecular biology. These maps combine the information from the Gene Dosage Map and the Phenotype Map. They only include information for the features associated with the chromosome 18 conditions. They do not include the phenotypes for which a chromosome 18 gene is a risk factor or one of a combination of factors associated with a specific phenotype.

Learn how to use a Gene Dosage Map and about the clinical utility of a molecular diagnosis from these YouTube videos.

If you use information from our Gene Dosage Maps in a publication, please cite us: Cody JD, Heard P, Rupert D, Hasi-Zogaj M, Hill A, Sebold C, Hale DE. (2018) Chromosome 18 Gene Dosage Map 2.0 Hum Genet 137(11):961-970. doi:10.1007/s00439-018-1960-6.