Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum.
Elizabeth M McCormickKierstin KellerJulie P TaylorAlison J CoffeyLishuang ShenDanuta KrotoskiBrian Hardingnull nullCésar Augusto Pinheiro Ferreira AlvesAnna ArdissoneRenkui BaiIsabella Peixoto de BarcelosEnrico BertiniKrista BluskeJohn ChristodoulouAmanda R ClauseWilliam C CopelandGeorge A DiazNazzareno DiodatoMatthew C DulikGreg EnnsAnnette FeigenbaumCarl FratterDaniele GhezziAmy GoldsteinAndrea GropmanRichard HaasAmel KaraaMary Kay KoenigBerrin MonteleoneSumit ParikhBelen Perez DuenasRevathi RajkumarAnn SaadaRussell P SanetoKate SergeantJohn ShoffnerConrad SmithChristine StanleyIsabelle ThiffaultDavid ThorburnMelissa WalkerDouglas WallaceLee-Jun WongXiaowu GaiMarni J FalkZarazuela Zolkipli-CunninghamShamima RahmanPublished in: Annals of neurology (2023)
GDRs for LSS were established for genes across both nuclear and mitochondrial genomes. Establishing these GDRs will allow accurate variant interpretation, expedite genetic diagnosis of LSS, and facilitate precision medicine, multi-system organ surveillance, recurrence risk counselling, reproductive choice, natural history studies and eligibility for interventional clinical trials. This article is protected by copyright. All rights reserved.