Course : ACMG Genomics Case Conference December 2018

Molecular Genetics of the Neurofibromatoses and Overlapping Disorders

Hosted by the University of Alabama at Birmingham (UAB)

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Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics.   Genomic Case Conferences are free for Members/Trainees (credits not included).

Session Description

The goal for this webinar is to review the genetics and clinical spectrum of the neurofibromatoses. This will be done through case examples that highlight the ambiguities or necessity of unique testing approaches outside of standard DNA-based testing options from blood.

Target audience

a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit
Date of Release: December 19, 2018
Expiration Date: December 19, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

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Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30) 
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)


At the conclusion of this session, participants should be able to:

  1. Differentiate NF1 versus Legius syndrome versus mosaic NF1 by applying appropriate testing and recognize current genotype-phenotype correlations
  2. Review unique testing approaches to analyze mosaicism
  3. Illustrate the ambiguity and overlap between NF2/ mosaic NF2 and schwannomatosis
  4. Utilize germline and somatic testing approaches to interpret and examine pathogenicity of variants associated with schwannomatosis predisposition disorders

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