The Neurodevelopmental Disorders Clinical Domain Working Group aims to centralize and curate knowledge in order to defines the clinical relevance of genes and variants associated with neurodevelopmental disorders for use in precision medicine and research.
|Epilepsy Gene Curation Expert Panel||Status -|
|Intellectual Disability/Autism Gene Curation Expert Panel||Status -|
|Rett/Angelman-like Variant Curation Expert Panel (In progress)||Status - Step 2|
|Michael Friez, PhD||Executive Leadership|
|Heather C. Mefford, MD, PhD||Executive Leadership|
|Scott Myers, MD, FAAP||Executive Leadership|
|Erin Rooney Riggs, MS, CGC||Coordinator|
|Carrie-Anne Barry, BS||Coordinator|
|Frank Avenilla, PhD||Member|
|Christin Collins, PhD||Member|
|Edward Cooper, MD, PhD||Member|
|Soma Das, PhD||Member|
|Ingo Helbig, MD||Member|
|Johannes Lemke, MD||Member|
|Christa Lese Martin, PhD, FACMG||Member|
|Donna Martin, MD, PhD||Member|
|David Miller, MD, PhD||Member|
|Ann Poduri, MD, MPH||Member|
|Christian Schaaf, MD, PhD, FACMG||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.
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.