Article
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Molecular genetics and metabolism - 1 Nov 2023
Flowers May, Dickson Alexa, Miller Marcus J, Spector Elaine, Enns Gregory Mark, Baudet Heather, Pasquali Marzia, Racacho Lemuel, Sadre-Bazzaz Kianoush, Wen Ting, Fogarty Melissa, Fernandez Raquel, Weaver Meredith A, Feigenbaum Annette, Graham Brett H, Mao Rong
Abstract excerpt
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is a relatively common inborn error of metabolism, but due to difficulty in accurately predicting affected status through newborn screening, molecular confirmation of the causative variants by sequencing of the ACADVL gene is necessary. Although the ACMG/AMP guidelines have helped standardize variant classification, ACADVL variant classification...
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