Clinical Domain Working Groups

Scope of work for the Syndromic Disorders GCEP:

The goal of the Syndromic Disorders GCEP is to classify the clinical validity of gene-disease relationships involving multiple body systems and therefore not under the purview of GCEPs that focus on a specific organ system or phenotype.

Sources of gene-disease pairs for curation by the Orphan Diseases GCEP will include:

• A prioritized gene list: Gene-disease pairs currently tested for in clinical laboratories identified through the Genetic Testing Registry (GTR) and prioritized by the number of times the gene is tested for in the GTR and the number of Pathogenic/Likely Pathogenic variants in that gene in ClinVar 
• A WES/WGS gene list: Gene-disease pairs identified through clinical whole genome or exome sequencing performed by diagnostic laboratories or research studies with personnel involved in the Orphan Diseases GCEP