Clinical Domain Working Groups
Rett and Angelman-like Disorders Variant Curation Expert Panel
Membership DocumentsThe Rett/Angelman-like Variant Curation Expert Panel is focused on providing high quality and standardized curation of variants in genes involved in Rett/Angelman-like disorders.The expert curation effort is currently focused on assessing variant pathogenicity within the following genes: MECP2, CDKL5, FOXG1, UBE3A, SLC9A6 and TCF4.
Expert Panel Status
Documents
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ClinGen Rett and Angelman-Like Disorders Variant Curation Expert Panel COIConflict Of Interest (COI) - August 25, 2022
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ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2Curation Activity Procedures - December 13, 2021 - Summary of changes in Version 2: Modifications to PP3 and BP4 (in silico prediction criteria) that affect splice site prediction, including thresholds to use for splice site prediction in silico tools. Archived Document
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ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1Curation Activity Procedures - February 17, 2021 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Chairs
Soma Das, PhD
Dee McKnight, PhD
Leadership
Lora Bean, PhD, FACMG
John Christodoulou, MBBS, PhD
Izabela Karbassi, PhD
Kai Lee Yap, PhD, FACMG
Coordinators
Gabrielle Millikin, BS
Erin Rooney Riggs, MS, CGC
Curators
Dana Burow, PhD
Kathleen Dady, MA, MS, CGC
Katelyn Geiser
Maria Helgeson, MS, CGC
Casey Thornton, PhD
Thierry Bienvenu, PhD
Jeffrey Neul, MD
Past Members
Taylor Bingaman
Hope Bonin
Ping Fang
Michael Friez, PhD
Linyan Meng, PhD
Lianna Paul
Alan Percy, MD
Allison Rossel, BA
Kelly Toner, MA
Kien Tran, PhD
Xiaonan Zhao, PhD
Huda Zoghbi, PhD
Chairs
Coordinators
Please contact a coordinator if you have questions.