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Phenylketonuria Variant Curation Expert Panel

Affiliated to Inborn Errors of Metabolism CDWG

Membership Documents

View the criteria specifications for this VCEP in ClinGen's Criteria Specification Registry (CSpec).

View all variant classifications approved by this VCEP.

View the ClinVar submitter page for this VCEP.

Expert Panel Status

Step 1

Step 2

Step 3

Step 4

Define Group
Completed

Develop Classification Rules
Completed

Pilot Rules
Completed Apr. 2018

Expert Panel Approval
Completed Apr. 2018

Documents

Phenylketonuria Variant Curation Expert Panel COI
Conflict Of Interest (COI) - August 25, 2022

Phenylketonuria Variant Curation Expert Panel
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
Publications - October 11, 2018

Phenylketonuria Variant Curation Expert Panel
ClinGen PAH Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Curation Activity Procedures - April 2, 2018 Archived Document

Phenylketonuria Variant Curation Expert Panel

Expert Panel Membership

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

Chairs

William J. Craigen, MD, PhD

Coordinators

Ashley Ratzsch, MS, GC

Curators

Emily Groopman, MD, PhD

Justyne E. Ross, PhD

Diane Zastrow, MS, CGC

Members

Heather Baudet, MD, PhD

Annette Feigenbaum, MD

Uta Lichter-Konecki, MD

Marzia Pasquali, PhD

Justyne E. Ross, PhD

Meredith Weaver PhD, ScM, CGC

Past Members

Jonathan Berg, MD, PhD

Steven F. Dobrowolski, PhD

Karen Eilbeck

Gregory Enns, MD

Raquel Fernandez, BS

Jenny Goldstein, PhD, CGC

Danuta Krotoski, PhD

Emily Kyle, BS

Angela Lager, PhD, FACMG

Jixia Liu, PhD

Elaine Lyon, PhD

Rong Mao, MD

Megan Mayers. MSc

Benjamin McLean, BA

Wei Shen, PhD

Yue Cindy Si, PhD

Elaine Spector, PhD

Robert D. Steiner, MD

Amanda Thomas-Wilson, PhD

Elizabeth Ulm, MS, CGC

Michael Watson, PhD, FACMG

Chairs

William J. Craigen, MD, PhD

Coordinators

Please contact a coordinator if you have questions.

Ashley Ratzsch, MS, GC

[email protected]