Course : ACMG Genomics Case Conference April 2016

The Importance of the X in eXome

Hosted by the University of California, San Francisco

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During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care. There are four overall learning objectives that will be covered in each session.

Session Description

“Women have two X chromosomes, but men have an X and a Y.” The X chromosome has a critical role in genetics, but is often less considered than the autosomes. This session will use whole exome sequencing (WES) results to review the biology of the X-chromosome, including X-linked patterns of inheritance and X-inactivation. Presenters will provide examples of WES results that describe sequence variants in newly identified genes causing X-linked ID. They will also discuss the merits of WES versus panel testing for individuals with X-linked ID and for individuals with ID that has an unknown inheritance pattern.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

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Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)


At the conclusion of the series, participants should be able to:

1. Describe the clinical utility of whole exome/whole genome sequencing tests

2. Identify clinical indications for whole exome/whole genome sequencing

3. List determinants used to assess the probability of a variant’s pathogenicity

4. Elaborate on the importance of pre-test counseling and consent

5. Explain the principles of X-linked recessive and X-linked dominant inheritance

6. Describe the mechanism for X-inactivation and how this can influence clinical findings

7. Discuss the contribution of X-linked genes to intellectual disability and to be aware of recently identified X-linked genes

8. Explain the advantages and disadvantages of whole exome sequencing versus panel testing for X-linked intellectual disability, and also for testing for intellectual disability in which the inheritance pattern is not known

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