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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...
Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the imprinted and maternally expressed UBE3A gene. Although de novo genetic and epigenetic imprinting defects of UBE3A genomic locus account for majority of Angelman diagnoses, approximately 10% of individuals affected with Angelman syndrome are a result of UBE3A loss‐of‐function mutations occurring on the expressed maternal...
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