| |  Online-Ressource |
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| Verfasst von: | Zastrow, Diane B. [VerfasserIn]  |
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| | Baudet, Heather [VerfasserIn] |
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| | Shen, Wei [VerfasserIn] |
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| | Thomas, Amanda [VerfasserIn] |
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| | Si, Yue [VerfasserIn] |
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| | Weaver, Meredith A. [VerfasserIn] |
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| | Lager, Angela M. [VerfasserIn] |
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| | Liu, Jixia [VerfasserIn] |
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| | Mangels, Rachel [VerfasserIn] |
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| | Dwight, Selina S. [VerfasserIn] |
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| | Wright, Matt W. [VerfasserIn] |
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| | Dobrowolski, Steven F. [VerfasserIn] |
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| | Eilbeck, Karen [VerfasserIn] |
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| | Enns, Gregory M. [VerfasserIn] |
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| | Feigenbaum, Annette [VerfasserIn] |
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| | Lichter‐Konecki, Uta [VerfasserIn] |
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| | Lyon, Elaine [VerfasserIn] |
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| | Pasquali, Marzia [VerfasserIn] |
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| | Watson, Michael [VerfasserIn] |
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| | Blau, Nenad [VerfasserIn] |
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| | Steiner, Robert D. [VerfasserIn] |
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| | Craigen, William J. [VerfasserIn] |
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| | Mao, Rong [VerfasserIn] |
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| Titel: | Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM) |
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| Titelzusatz: | the ClinGen IEM Working Group and the phenylalanine hydroxylase gene |
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| Verf.angabe: | Diane B. Zastrow, Heather Baudet, Wei Shen, Amanda Thomas, Yue Si, Meredith A. Weaver, Angela M. Lager, Jixia Liu, Rachel Mangels, Selina S. Dwight, Matt W. Wright, Steven F. Dobrowolski, Karen Eilbeck, Gregory M. Enns, Annette Feigenbaum, Uta Lichter‐Konecki, Elaine Lyon, Marzia Pasquali, Michael Watson, Nenad Blau, Robert D. Steiner, William J. Craigen, Rong Mao |
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| E-Jahr: | 2018 |
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| Jahr: | 11 October 2018 |
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| Umfang: | 12 S. |
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| Fussnoten: | Gesehen am 11.03.2020 |
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| Titel Quelle: | Enthalten in: Human mutation |
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| Ort Quelle: | New York, NY [u.a.] : Wiley-Liss, 1992 |
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| Jahr Quelle: | 2018 |
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| Band/Heft Quelle: | 39(2018), 11, Seite 1569-1580 |
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| ISSN Quelle: | 1098-1004 |
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| Abstract: | The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases. Phenylalanine hydroxylase (PAH) deficiency was chosen to pilot development of the Working Group's standards and guidelines. A PAH variant curation expert panel (VCEP) was created to facilitate this process. Following ACMG-AMP variant interpretation guidelines, we present the development of these standards in the context of PAH variant curation and interpretation. Existing ACMG-AMP rules were adjusted based on disease (6) or strength (5) or both (2). Disease adjustments include allele frequency thresholds, functional assay thresholds, and phenotype-specific guidelines. Our validation of PAH-specific variant interpretation guidelines is presented using 85 variants. The PAH VCEP interpretations were concordant with existing interpretations in ClinVar for 69 variants (81%). Development of biocurator tools and standards are also described. Using the PAH-specific ACMG-AMP guidelines, 714 PAH variants have been curated and will be submitted to ClinVar. We also discuss strategies and challenges in applying ACMG-AMP guidelines to autosomal recessive metabolic disease, and the curation of variants in these genes. |
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| DOI: | doi:10.1002/humu.23649 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1002/humu.23649 |
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| | Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23649 |
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| | DOI: https://doi.org/10.1002/humu.23649 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | ClinGen |
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| | inborn errors of metabolism |
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| | PAH deficiency |
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| | phenylalanine hydroxylase |
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| | variant interpretation |
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| K10plus-PPN: | 1692288962 |
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| Verknüpfungen: | → Zeitschrift |
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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM) / Zastrow, Diane B. [VerfasserIn]; 11 October 2018 (Online-Ressource)
