PTEN Variant Curation Expert Panel


Pathogenic germline variants in PTEN are indicative of PTEN Hamartoma Tumor syndrome (PHTS, MIM+601728), an umbrella term used to describe any individual with a germline pathogenic PTEN variant regardless of clinical presentation.  PHTS causes increased risk for benign and malignant tumors as well as neurodevelopmental disorders, and includes individuals with Cowden syndrome (MIM#158350), Bannayan-Riley-Ruvalcaba syndrome (MIM#153480), and other phenotypes such as Macrocephaly/Autism syndrome (#605309) found to have a germline pathogenic PTEN variant.  This expert panel will provide assessment regarding the pathogenicity of variants in PTEN with respect to a PHTS phenotype.

Expert Status - In progress

Step 1
Step 2
Step 3
Step 4
Define Group
Complete
Develop Classification Rules
Completed
Pilot Rules
In progress
Expert Panel Approval

Leadership

Charis Eng, MD, PhD

Madhuri Hegde, PhD, FACMG


Coordinators

Please contact a coordinator if you have questions.

Jessica Mester, MS, CGC


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Jessica Mester, MS, CGC


What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.