Table 2 –
Current and ongoing ClinGen-affiliated VCEPs. †VCEPs funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and the American Society of Hematology.
| Cardiovascular CDWG | Hereditary Cancer CDWG | Inborn Errors of Metabolism CDWG | Neurodevelopmental Diseases CDWG | Hearing Loss CDWG | Hemostasis and Thrombosis CDWG | Somatic Cancer CDWG | Not Affiliated to CDWG | |
|---|---|---|---|---|---|---|---|---|
|
Step 1 Define WG and Plans |
FBN1 (Marfan Syndrome) | Myeloid Malignancy† | Angelman/Rett-like Diseases | Platelet Disorders† | TP53 (Somatic) | |||
|
Step 2 Develop Variant Classification Rules |
KCNQ1 (Long QT) | GAA/Storage
Diseases Mitochondrial Diseases† |
Monogenic Diabetes† | |||||
|
Step 3 Pilot Rules |
Familial Hypercholesterolemia | CDH1 (Diffuse Gastric
Cancer) TP53 (Li-Fraumeni Syndrome) |
Brain Malformations† | Hereditary Hearing Loss | ||||
|
Step
4 Implementation |
MYH7/Inherited Cardiomyopathy | PTEN (PTEN Hamartoma Tumor Syndrome) | PAH (Phenylketonuria) | RASopathy |