Clinical Domain Working Groups
Ocular Oncology Variant Curation Expert Panel
MembershipThe RB1 VCEP will first focus on the tumor suppressor gene RB1, which has a ClinGen Gene-Disease Validity assertion of definitive for the phenotype retinoblastoma (MONDO:0008380). Following completion of variant classification guidelines for the RB1 gene, the VCEP will focus on curation for the BAP1 gene. The BAP1 gene has a ClinGen Gene-Disease Validity assertion for BAP1-related predisposition syndrome (MONDO:0013692).
Expert Panel Status
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Arupa Ganguly, PhD, FACMG
Dietmar Lohmann, MD
Hilary Racher, PhD, DABMGG, FACMG, FCCMG
Coordinators
Stacey Cohen, MS
Curators
Molly McGuinness, CGC
Natalie Waligorski, MPH, MS, LCGC
Members
Rod Bremner, PhD
Elizabeth Chao, MD, FACMG
Lesley Chapman Hannah, PhD
Patricia Chevez-Barrios, MD
Hakan Demirci, MD
Lauren Desrosiers-Battu, MS, CGC
Petra Ketteler, MD
Sibylle Mittnacht, Prof.
M. Ashwin Reddy, MD, FRCOphth, MBBChir
Chairs
Coordinators
Please contact a coordinator if you have questions.