Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

doi:10.1007/s00439-023-02547-z

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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Human genetics - 1 Jun 2023

Leone Maria Pia, Morlino Silvia, Nardella Grazia, Pracella Riccardo, Giachino Daniela, Celli Luca, Baldo Demetrio, Turolla Licia, Piccione Maria, Salzano Emanuela, Busè Martina, Lastella Patrizia, Zollino Marcella, Cantone Rachele, Grosso Enrico, Zonta Andrea, Pasini Barbara, Piscopo Carmelo, De Maggio Ilaria, Priolo Manuela, Mammi Corrado, Foiadelli Thomas, Trabatti Chiara, Savasta Salvatore, Iolascon Achille, Ferraris Alessandro, Lodato Valentina, Di Giosaffatte Niccolò, Majore Silvia, Selicorni Angelo, Petracca Antonio, Fusco Carmela, Celli Mauro, Guarnieri Vito, Micale Lucia, Castori Marco

Abstract excerpt

Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1,...

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PMID: 37079061
DOI: 10.1007/s00439-023-02547-z

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