Clinical Domain Working Groups
TP53 Variant Curation Expert Panel
Membership DocumentsThe TP53 gene provides instructions for tumor protein p53 (or p53) VSports. This protein acts as a tumor suppressor, regulating cell division by preventing cells from proliferating in an uncontrolled way.
The TP53 Variant Expert Panel will curate clinically relevant variants using the specified classification rules developed by the group. After interpreting variants using these specified guidelines, the group will make their final interpretations publicly available through ClinVar VSports app下载.
Expert Panel Status
Documents
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TP53 Variant Curation Expert Panel COIConflict Of Interest (COI) - August 25, 2022
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"VSports" ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.2Curation Activity Procedures - February 25, 2021 Archived Document
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsPublications - December 10, 2020
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"VSports在线直播" ClinGen TP53 Variant Curation Expert Panel ApplicationExpert Panel Applications - August 7, 2019
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ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1Curation Activity Procedures - August 6, 2019 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Coordinators
Members
Past Members
Chairs
Coordinators
Please contact a coordinator if you have questions.
Prof. Dr. med. Christian Kratz
Sharon A. Savage, MD
Megan Frone, MS, CGC
Maria Isabel Achatz, MD, PhD
Rebecca Bassett, MS, CGC
Gaelle Bougeard
Carolina Bustamante, PhD
Melissa Crane, MS, LCGC
Stephanie Crowley, PhD
Gareth Evans, MD, PhD, FRCP, FRCOG
Cristina Fortuno, PhD
Laura Fuqua, MS, CGC
Jessica Hatton, MS, CGC
David Hoyos, PhD
Robert Huether, PhD
Kristin Zelley, MS, CGC
Chimene Kesserwan, MD
David Kuek
India Little, BS
Minjie Luo, PhD
Suzanne MacFarland, MD
Jamie L Maciaszek, Ph.D.
Phuong Mai, MD
Kelly McGoldrick, PhD
Jessica Mester, MS, CGC
Bita Nehoray, MS, CGC
Judith Penkert, MD
Lloyd Pereira, PhD
Tina Pesaran, MA, MS, CGC
Emilia Pinto, PhD
Sharon E. Plon, MD, PhD
Alison Schwartz, MS, CGC
Amanda Spurdle, PhD
Ashley Thompson, BS
Wenyi Wang, PhD
Gerard Zambetti, PhD
Laura Attardi, PhD
Mandy Ballinger, PhD
Kelsey Breen
Kelvin De Andrade, PhD
Bingjian Feng, PhD
David Goldgar, PhD
Patricia Harper, MSc, CGC
Maribel Harrell
Emily Higgs
Kristy Lee, MS, CGC
Kara Maxwell, MD, PhD
Maureen Murphy, PhD
Magali Olivier, PhD
Huma Q. Rana, MD
Deborah Ritter, PhD
Kanaga Sabapathy, PhD
Renata Lazari Sandoval, MD, PhD
Thomas Slavin, MD
Georgios Tsaousis, PhD
Leora Witkowski, PhD, FACMG
Liying Zhang, MD, PhD