Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility-Reference-Cited by-同舟云学术

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

Published:2023-04-20 Issue:6 Volume:142 Page:785-808
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

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

Funder

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-023-02547-z.pdf

Reference20 articles.

1. Akawi NA, Al-Gazali L, Ali BR (2012) Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. Clin Genet 82(2):147–156. https://doi.org/10.1111/j.1399-0004.2011.01734.x

2. Bekdache GN, Begam MA, Chedid F, Al-Gazali L, Mirghani H (2013) Fibrochondrogenesis: prenatal diagnosis and outcome. J Obstet Gynaecol 33(7):663–668. https://doi.org/10.3109/01443615.2013.817977

3. Biesecker LG, Harrison SM, ClinGen Sequence Variant Interpretation Working (2018) The ACMG/AMP reputable source criteria for the interpretation of sequence variants. Genet Med 20(12):1687–1688. https://doi.org/10.1038/gim.2018.42

4. Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Clinical Berg JS, Genome Resource Sequence Variant Interpretation Working (2019) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Med 12(1):3. https://doi.org/10.1186/s13073-019-0690-2

5. Chen JM, Masson E, Zou WB, Liao Z, Génin E, Cooper DN, Férec C (2023) Validation of the ACMG/AMP guidelines-based seven-category variant classification system. medRxiv. https://doi.org/10.1101/2023.01.23.23284909