Using online OMIM and ClinVar please provide a summary for your patients with Prader-Willi syndrome.
1.Go to the Online Mendelian Inheritance in ManLinks to an external site. website
2.Select the Getting Started option
3.Enter a Prader-Willi syndrome.in the search box and select Search
4.Then you can do the same search in ClinVar or 1000 genomes.
5.https://www.internationalgenome.org/Links to an external site.
6. https://www.ncbi.nlm.nih.gov/clinvar/Links to an external site.
You want to review the entries to ensure that you are getting valuable data. Sometimes the early results are lacking a good bit of information. You are looking for an entry that will provide you with the information to complete the requirements for this assignment. See the requirements below.
Write a brief summary of your findings and include the following:
1.Clinical synopsis
2.Cytogenetics (Include uniparental disomy and any mutations that might cause the syndrome)
3.Pathogenesis
4.Population genetics (prevalence and risk)
5.From ClinVar please include information from the top 3 variants (just a few sentences)
6.Please write in a vernacular that your college-educated non-science major patient can understand.
