University College London (UCL)
United Kingdom of Great Britain & Northern Ireland-
Gavin Arno, PhD -
Siobhan Burns, PhD -
Melanie Chan, BSc -
Mike Cheetham, PhD -
Lyn Chitty, MD -
Andrea Cortese, MD
-
Mallory Downie, MD -
Kaoru Fujinami, MD, PhD -
Daniel Gale, PhD -
John Hardy, PhD -
Neringa Jurkute, MD, FEBO -
Tom Lumbers, MD -
Hannah Mitchison, BSc, PhD -
Sibylle Mittnacht, Prof. -
Ebun Omoyinmi, PhD -
Nikolas Pontikos, PhD -
Christos Proukakis, PhD, MBBCh, FRCP
-
Alex Rossor, PhD
-
Dorota Rowczenio, PhD -
Omid Sadgehi-Alavijeh, MD -
Andrew Webster, MD, MS
ClinGen Members
Expert Panels
- ABCA4 Variant Curation Expert Panel
- Alport Syndrome Variant Curation Expert Panel
- Charcot-Marie-Tooth Disease Gene Curation Expert Panel
- Charcot-Marie-Tooth Disease Variant Curation Expert Panel
- Complement-Mediated Kidney Diseases Gene Curation Expert Panel
- Congenital Anomalies of the Kidney and Urinary Tract Gene Curation Expert Panel
- Dilated Cardiomyopathy Gene Curation Expert Panel
- Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) Variant Curation Expert Panel
- Familial Hypercholesterolemia Variant Curation Expert Panel
- Glomerulopathy Gene Curation Expert Panel
- Hereditary Cardiovascular Disease Gene Curation Expert Panel
- Kidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel
- Kidney Cystic and Ciliopathy Disorders Variant Curation Expert Panel
- Leber Congenital Amaurosis/early onset Retinal Dystrophy Variant Curation Expert Panel
- Monogenic Autoinflammatory Diseases Gene Curation Expert Panel
- Motile Ciliopathy Gene Curation Expert Panel
- Motile Ciliopathy Variant Curation Expert Panel
- Ocular Oncology Variant Curation Expert Panel
- Optic Nerve Atrophy Variant Curation Expert Panel
- Parkinson's Disease Variant Curation Expert Panel
- Prenatal Gene Curation Expert Panel
- Retina Gene Curation Expert Panel
- SCID-CID Gene Curation Expert Panel
- Tubulopathy Gene Curation Expert Panel
- X-linked Inherited Retinal Disease Variant Curation Expert Panel