Clinical Domain Working Groups

Platelet Disorders Variant Curation Expert Panel

Membership Documents

The Platelet Disorders Expert Panel will curate clinically relevant variants using the specified classification rules developed by the group. After interpreting variants using these specified guidelines, the group will make their final interpretations publicly available through ClinVar.

This VCEP plans to begin ACMG/AMP rule specification for genes associated with Glanzmann thrombasthenia (OMIM: 273800). These genes include ITGA2B and ITGB3.  The group then plans to move to rule specifications for Bernard-Soulier syndrome (OMIM: 231200), including the GP9, GP1BA and GP1BB genes.  These two platelet disorders are well studied and their biology is well understood, and these genes are commonly ordered for testing in hematology practices.  We plan to submit for full EP status after completion of rule specifications for the genes associated with Glanzmann thrombasthenia, and then we will update our application once the Bernard-Soulier gene specifications are completed and approved by the SVI committee.

Expert Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Sep. 2018
Develop Classification Rules
Completed Apr. 2019
Pilot Rules
Completed Jun. 2020
Expert Panel Approval
Completed Jun. 2020


Expert Panel Membership

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