Autism and Intellectual Disability Gene Curation Expert Panel


The Intellectual Disability/ Autism Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants clearly cause intellectual disability and/or autism. The gene-disease validity curation process includes 6 classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, Refuted.

Expert Status - Approved Expert Panel

Step 1
Step 2
Define Group
Complete
Expert Panel Approval
Complete

Leadership

David Miller, MD, PhD

Christian Schaaf, MD, PhD, FACMG


Coordinators

Please contact a coordinator if you have questions.

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

Kelly Toner, MA
ktoner1@geisinger.edu


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

Kelly Toner, MA
ktoner1@geisinger.edu


What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.