Clinical Domain Working Groups
Platelet Disorders Variant Curation Expert PanelMembership 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
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1Curation Activity Procedures - June 12, 2020
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.