Article
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Human mutation - 1 Aug 2022
McKnight Dianalee, Bean Lora, Karbassi Izabela, Beattie Katelynn, Bienvenu Thierry, Bonin Hope, Fang Ping, Chrisodoulou John, Friez Michael, Helgeson Maria, Krishnaraj Rahul, Meng Linyan, Mighion Lindsey, Neul Jeffrey, Percy Alan, Ramsden Simon, Zoghbi Huda, Das Soma
Abstract excerpt
The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelines. To address those challenges, the Rett and Angelman-like Disorders Variant Curation Expert Panel (Rett/AS VCEP) drafted gene-specific modifications. A pilot study was conducted to test the clarity and accuracy of using the customized variant interpretation criteria. Multiple...
Topics
- Genetic Testing
- Genetic Variation
- Genome, Human
- Humans
- Pilot Projects