Clinical Domain Working Groups

One specific goal of ClinGen is to develop teams of experts in different clinical domains to evaluate the clinical validity of gene-disease relationships and pathogenicity of individual genetic variants. These clinical domain working groups consist of expert clinicians, clinical laboratory diagnosticians, and researchers who will enlist representatives from community-organized efforts to implement standardized protocols for gene or sequence variant specific annotations of genes related to the specific disease domain.

Interested in becoming an Expert Panel? Learn more about the process? here.

Membership Documents Tools
Cardiovascular CDWG
Arrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel
Cardiovascular CDWG
Brugada Syndrome Gene Curation Expert Panel Inactive
Cardiovascular CDWG
Cardiomyopathy Variant Curation Expert Panel
Cardiovascular CDWG
Catecholaminergic Polymorphic Ventricular Tachycardia Gene Curation Expert Panel Inactive
Cardiovascular CDWG
Congenital Heart Disease Gene Curation Expert Panel
Cardiovascular CDWG
Congenital Heart Disease Variant Curation Expert PanelIn Process
Cardiovascular CDWG
Desmosomal Cardiomyopathy Variant Curation Expert PanelIn Process
Cardiovascular CDWG
Dilated Cardiomyopathy Gene Curation Expert Panel
Cardiovascular CDWG
Familial Hypercholesterolemia Variant Curation Expert Panel
Cardiovascular CDWG
FBN1 Variant Curation Expert Panel
Cardiovascular CDWG
Hereditary Cardiovascular Disease Gene Curation Expert Panel
Cardiovascular CDWG
Heritable Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel Inactive
Cardiovascular CDWG
Hypertrophic Cardiomyopathy Gene Curation Expert Panel Inactive
Cardiovascular CDWG
Long QT Syndrome Gene Curation Expert Panel Inactive
Cardiovascular CDWG
Potassium Channel Arrhythmia Variant Curation Expert PanelIn Process
Cardiovascular CDWG
Pulmonary Hypertension Gene Curation Expert Panel
Cardiovascular CDWG
Pulmonary Hypertension Variant Curation Expert Panel
Cardiovascular CDWG
Short QT Syndrome Gene Curation Expert Panel Inactive
Hearing Loss CDWG
Hearing Loss Gene Curation Expert Panel
Hearing Loss CDWG
Hearing Loss Variant Curation Expert Panel
Hemostasis/Thrombosis CDWG
Coagulation Factor Deficiency Variant Curation Expert Panel
Hemostasis/Thrombosis CDWG
Hemostasis/Thrombosis Gene Curation Expert Panel
Hemostasis/Thrombosis CDWG
Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel
Hemostasis/Thrombosis CDWG
Platelet Disorders Variant Curation Expert Panel
Hemostasis/Thrombosis CDWG
Thrombosis Variant Curation Expert Panel
Hemostasis/Thrombosis CDWG
von Willebrand Disease Variant Curation Expert Panel
Hereditary Cancer CDWG
Breast/Ovarian Cancer Gene Curation Expert Panel Inactive
Hereditary Cancer CDWG
Childhood, Adolescent and Young Adult Cancer Predisposition Gene Curation Expert Panel
Hereditary Cancer CDWG
Colon Cancer Gene Curation Expert Panel Inactive
Hereditary Cancer CDWG
DICER1 and miRNA-Processing Gene Variant Curation Expert Panel
Hereditary Cancer CDWG
Endocrine Tumor Predisposition Variant Curation Expert PanelIn Process
Hereditary Cancer CDWG
ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Hereditary Cancer CDWG
Gastric Cancer Variant Curation Expert Panel
Hereditary Cancer CDWG
Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel
Hereditary Cancer CDWG
Hereditary Cancer Gene Curation Expert Panel
Hereditary Cancer CDWG
InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
Hereditary Cancer CDWG
Myeloid Malignancy Variant Curation Expert Panel
Hereditary Cancer CDWG
Neurofibromatoses and Schwannomatosis Variant Curation Expert PanelIn Process
Hereditary Cancer CDWG
Ocular Oncology Variant Curation Expert PanelIn Process
Hereditary Cancer CDWG
PTEN Variant Curation Expert Panel
Hereditary Cancer CDWG
TP53 Variant Curation Expert Panel
Hereditary Cancer CDWG
VHL Variant Curation Expert Panel
Immunology CDWG
Antibody Deficiencies Gene Curation Expert Panel
Immunology CDWG
Antibody Deficiencies Variant Curation Expert PanelIn Process
Immunology CDWG
Hereditary Angioedema Variant Curation Expert PanelIn Process
Immunology CDWG
Primary Immune Regulatory Disorders Gene Curation Expert Panel
Immunology CDWG
SCID-CID Gene Curation Expert Panel
Immunology CDWG
Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
Inborn Errors of Metabolism CDWG
ACADVL Variant Curation Expert Panel
Inborn Errors of Metabolism CDWG
Aminoacidopathy Gene Curation Expert Panel
Inborn Errors of Metabolism CDWG
Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel
Inborn Errors of Metabolism CDWG
Congenital Disorders of Glycosylation Gene Curation Expert Panel
Inborn Errors of Metabolism CDWG
Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) Variant Curation Expert PanelIn Process
Inborn Errors of Metabolism CDWG
Fatty Acid Oxidation Disorders Gene Curation Expert Panel
Inborn Errors of Metabolism CDWG
Galactosemia Variant Curation Expert PanelIn Process
Inborn Errors of Metabolism CDWG
General Inborn Errors of Metabolism Gene Curation Expert Panel
Inborn Errors of Metabolism CDWG
Glucose-6-phosphate dehydrogenase Variant Curation Expert PanelIn Process
Inborn Errors of Metabolism CDWG
Lysosomal Diseases Gene Curation Expert Panel
Inborn Errors of Metabolism CDWG
Lysosomal Diseases Variant Curation Expert Panel
Inborn Errors of Metabolism CDWG
Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel
Inborn Errors of Metabolism CDWG
Mitochondrial Diseases Gene Curation Expert Panel
Inborn Errors of Metabolism CDWG
Monogenic Diabetes Gene Curation Expert Panel
Inborn Errors of Metabolism CDWG
Monogenic Diabetes Variant Curation Expert Panel
Inborn Errors of Metabolism CDWG
Peroxisomal Disorders Gene Curation Expert Panel
Inborn Errors of Metabolism CDWG
Peroxisomal Disorders Variant Curation Expert PanelIn Process
Inborn Errors of Metabolism CDWG
Phenylketonuria Variant Curation Expert Panel
Inborn Errors of Metabolism CDWG
Propionic Acidemia and Methylmalonic Acidemia Variant Curation Expert PanelIn Process
Inborn Errors of Metabolism CDWG
Urea Cycle Disorders Variant Curation Expert PanelIn Process
Kidney Disease CDWG
Alport Syndrome Variant Curation Expert PanelIn Process
Kidney Disease CDWG
Complement-Mediated Kidney Diseases Gene Curation Expert Panel
Kidney Disease CDWG
Congenital Anomalies of the Kidney and Urinary Tract Gene Curation Expert Panel
Kidney Disease CDWG
Glomerulopathy Gene Curation Expert Panel
Kidney Disease CDWG
Kidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel
Kidney Disease CDWG
Kidney Cystic and Ciliopathy Disorders Variant Curation Expert PanelIn Process
Kidney Disease CDWG
Tubulopathy Gene Curation Expert Panel
Neurodevelopmental Disorders CDWG
Brain Malformations Gene Curation Expert Panel
Neurodevelopmental Disorders CDWG
Brain Malformations Variant Curation Expert Panel
Neurodevelopmental Disorders CDWG
Cerebral Palsy Gene Curation Expert Panel
Neurodevelopmental Disorders CDWG
Epilepsy Gene Curation Expert Panel
Neurodevelopmental Disorders CDWG
Epilepsy Sodium Channel Variant Curation Expert Panel
Neurodevelopmental Disorders CDWG
GRIN Disorders Variant Curation Expert PanelIn Process
Neurodevelopmental Disorders CDWG
Intellectual Disability and Autism Gene Curation Expert Panel
Neurodevelopmental Disorders CDWG
Leukodystrophy and Leukoencephalopathy Gene Curation Expert Panel
Neurodevelopmental Disorders CDWG
Leukodystrophy and Leukoencephalopathy Variant Curation Expert PanelIn Process
Neurodevelopmental Disorders CDWG
Rett and Angelman-like Disorders Variant Curation Expert Panel
Neurological Disorders CDWG
Amyotrophic Lateral Sclerosis Spectrum Disorders Gene Curation Expert Panel
Neurological Disorders CDWG
Amyotrophic Lateral Sclerosis Spectrum Disorders Variant Curation Expert PanelIn Process
Neurological Disorders CDWG
Cerebellar Ataxia Gene Curation Expert Panel
Neurological Disorders CDWG
Charcot-Marie-Tooth Disease Gene Curation Expert Panel
Neurological Disorders CDWG
Charcot-Marie-Tooth Disease Variant Curation Expert PanelIn Process
Neurological Disorders CDWG
Congenital Myopathies Gene Curation Expert Panel
Neurological Disorders CDWG
Congenital Myopathies Variant Curation Expert Panel
Neurological Disorders CDWG
Limb Girdle Muscular Dystrophy Variant Curation Expert Panel
Neurological Disorders CDWG
Muscular Dystrophies and Myopathies Gene Curation Expert Panel
Neurological Disorders CDWG
Parkinson's Disease Gene Curation Expert Panel
Neurological Disorders CDWG
Parkinson's Disease Variant Curation Expert PanelIn Process
Ocular CDWG
ABCA4 Variant Curation Expert PanelIn Process
Ocular CDWG
Albinism Variant Curation Expert PanelIn Process
Ocular CDWG
Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel
Ocular CDWG
Glaucoma Variant Curation Expert Panel
Ocular CDWG
Leber Congenital Amaurosis/early onset Retinal Dystrophy Variant Curation Expert Panel
Ocular CDWG
Ocular Anterior Segment Disorder Variant Curation Expert PanelIn Process
Ocular CDWG
Optic Nerve Atrophy Variant Curation Expert PanelIn Process
Ocular CDWG
Pediatric Cataract Variant Curation Expert PanelIn Process
Ocular CDWG
Retina Gene Curation Expert Panel
Ocular CDWG
X-linked Inherited Retinal Disease Variant Curation Expert PanelIn Process
Other
General Gene Curation Expert Panel
Other
Hemoglobinopathy Variant Curation Expert PanelIn Process
Other
Malignant Hyperthermia Susceptibility Variant Curation Expert Panel
Other
Prenatal Gene Curation Expert Panel
Other
Somatic Mosaicism of Vascular Anomalies Gene Curation Expert Panel
Other
Syndromic Disorders Gene Curation Expert Panel
Pulmonary CDWG
Interstitial Lung Disease Gene Curation Expert Panel
Pulmonary CDWG
Motile Ciliopathy Gene Curation Expert Panel
Pulmonary CDWG
Motile Ciliopathy Variant Curation Expert PanelIn Process
RASopathy CDWG
RASopathy Gene Curation Expert Panel
RASopathy CDWG
RASopathy Variant Curation Expert Panel
Rheumatologic Autoimmune Disease CDWG
Monogenic Autoinflammatory Diseases Gene Curation Expert Panel
Rheumatologic Autoimmune Disease CDWG
Monogenic Systemic and Incomplete Lupus Erythematosus Gene Curation Expert Panel
Skeletal Disorders CDWG
Craniofacial Malformations Gene Curation Expert Panel
Skeletal Disorders CDWG
Skeletal Disorders Gene Curation Expert Panel
Skeletal Disorders CDWG
Skeletal Disorders Variant Curation Expert PanelIn Process
Somatic Cancer CDWG
BCR::ABL1-like B-lymphoblastic Leukemia/Lymphoma Somatic Cancer Variant Curation Expert PanelIn Process
Somatic Cancer CDWG
Established Significance Somatic Cancer Variant Curation Expert PanelIn Process
Somatic Cancer CDWG
Fibroblast Growth Factor Receptor Mutations (SNVs) Somatic Cancer Variant Curation Expert PanelIn Process
Somatic Cancer CDWG
FLT3 (Fms Related Receptor Tyrosine Kinase 3) Somatic Cancer Variant Curation Expert PanelIn Process
Somatic Cancer CDWG
Histone H3 Somatic Cancer Variant Curation Expert PanelIn Process
Somatic Cancer CDWG
MAPK/ERK Pathway Somatic Cancer Variant Curation Expert PanelIn Process
Somatic Cancer CDWG
NTRK Fusions Somatic Cancer Variant Curation Expert PanelIn Process

See full a list of Clinical Domain Working Groups and associated Expert Panels here.
Chairs
Jonathan Berg, MD, PhD
Sharon E. Plon, MD, PhD
Heidi Rehm, PhD
Coordinators
Please contact a coordinator if you have questions.
Emma Owens, BS
[email protected]

Documents

Tools & Resources

CDWG Membership

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

Chairs

Leadership

Coordinators

Past Members