The 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.
|Soma Das, PhD||Executive Leadership|
|Erin Rooney Riggs, MS, CGC||Coordinator|
|Carrie-Anne Barry, BS||Coordinator|
|Amy Knight Johnson, MS, CGC||Coordinator|
|Dee McKnight, PhD||Member|
|Lora Bean, PhD||Member|
|Izabela Karbassi, PhD||Member|
|Linyan Meng, PhD||Member|
|Michael Friez, PhD||Member|
|John Christodoulou, MBBS, PhD||Member|
|Huda Zoghbi, PhD||Member|
|Alan Percy, MD||Member|
|Jeffrey Neul, MD||Member|
|Thierry Bienvenu, PhD||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.