Community Curation

Seeking volunteers

Interested in volunteering for curation efforts, take our survey!

If you have any questions, please feel free to email us at volunteer@clinicalgenome.org

Current Comprehensive Curation Efforts Accepting Volunteers

* These efforts require specific skill sets and/ or prior experience with curation

Dosage Sensitivity Working Group*

• Dosage-Recurrent Regions*
• Dosage- Neurodevelopmental*
• Dosage- Hereditary Cancer (newly forming)*

Gene Curation Expert Panels

• Intellectual Disability and Autism
• Hereditary Cancer*
• Hemostasis/ Thrombosis
• Brain Malformations 
• Monogenic Diabetes
• Congenital Myopathies*
• Charcot Marie Tooth-CMT*
• Limb Girdle Muscular Dystrophy*
• Inherited Retinal Diseases (newly forming)
• Glaucoma/Neuro Ocular (newly forming)
• Pulmonary Hypertension (newly forming)

Variant Curation Expert Panels

• RASopathy*
• Cardiomyopathy*
• PTEN*
• VHL (Von Hippel-Lindau)*
• TP53*
• ACADVL*
• CDH1*
• Hearing Loss*
• Lysosomal Storage Disorders
• Coagulation Factor Deficiencies
• Platelet Disorder
• Brain Malformations
• Monogenic Diabetes
• Cerebral Creatine Deficiency Syndromes*
• Familial Hypercholesterolemia
• FBN1
• Phenylketonuria
• DICER1 (newly forming)*
• Colorectal Cancer (newly forming)
• Congenital Myopathies (newly forming)*
• Peroxisomal Disorders (newly forming)*
• OTC (newly forming)*
• Limb Girdle Muscular Dystrophy (newly forming)
• von Willebrand Disease (newly forming)

Somatic Cancer Working Group

• Pediatric
• Pancreatic
• Genitourinary Tract Cancers (newly forming)

Actionability Working Group

• Pediatric

 

Tools & Resources

Working Group Membership

Membership spans many fields, including genetics, medical, academia, and industry.

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