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.
| ClinGen Gene Curation Standard Operating Procedures | View |
| Name | Role |
|---|---|
| David Miller, MD, PhD | Executive Leadership |
| Christian Schaaf, MD, PhD, FACMG | Executive Leadership |
| Erin Rooney Riggs, MS, CGC | Coordinator |
| Kelly Toner, MA | Coordinator |
| Rhea Behlmann, PhD, MB | Member |
| Bret Bostwick, MD | Member |
| Chun-An Chen, PhD | Member |
| Alberto di Ronza, PhD | Member |
| Courtney Thaxton, PhD | Member |
| Mari Tokita, PhD | Member |
| Jiani Yin, PhD | Member |
| Xinming (Ming) Zhuo, PhD | Member |
| Andrew Grant | Member |
| Rebecca Siegert | Member |
| Shruthi Mohan, Ph.D. | Member |
| Tam Sneddon | Member |
| Christin Collins | Member |
Christian Schaaf, MD, PhD, FACMG
Please contact a coordinator if you have questions.
Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu
Kelly Toner, MA
ktoner1@geisinger.edu
Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu
Kelly Toner, MA
ktoner1@geisinger.edu
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.
