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

Please contact a coordinator if you have questions.