Clinical Domain Working Groups

PTEN Variant Curation Expert Panel

Membership Documents

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 Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Develop Classification Rules
Pilot Rules
Completed Aug. 2018
Expert Panel Approval
Completed Aug. 2018

Please contact a coordinator if you have questions.