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


Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.


Please contact a coordinator if you have questions.