Clinical Domain Working Groups

Rett and Angelman-like Disorders Variant Curation Expert Panel

Membership Documents

The Rett/Angelman-like Variant Curation Expert Panel is focused on providing high quality and standardized curation of variants in genes involved in Rett/Angelman-like disorders.The expert curation effort is currently focused on assessing variant pathogenicity within the following genes: MECP2, CDKL5, FOXG1, UBE3A, SLC9A6 and TCF4.

Expert Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Apr. 2018
Develop Classification Rules
Completed Apr. 2019
Pilot Rules
In progress
Expert Panel Approval

Documents

Expert Panel Membership

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

Past Members


Chairs

Coordinators
Please contact a coordinator if you have questions.