Rett/Angelman-like Variant Curation Expert Panel


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 Status - In progress

Step 1
Step 2
Step 3
Step 4
Define Group
Complete
Develop Classification Rules
In progress
Pilot Rules
Expert Panel Approval

Leadership

Soma Das, PhD


Coordinators

Please contact a coordinator if you have questions.

Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu

Carrie-Anne Barry, BS
cabarry1@geisinger.edu

Amy Knight Johnson, MS, CGC


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu

Carrie-Anne Barry, BS
cabarry1@geisinger.edu

Amy Knight Johnson, MS, CGC


What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.