ClinGen Framework for PIK3CD Variant Classification: Use of Adapted ACMG/AMP Guidelines

被引:0
作者
Nieto-Patlan, Alejandro [1 ]
Worley, Lindsay [2 ]
Hankey, William [3 ]
Hilliard, Kyle [2 ]
Siew, Justine [2 ]
Wang, Lijun [4 ]
Boisson, Bertrand [5 ]
Maimaris, Jes [6 ]
Cunningham-Rundles, Charlotte [7 ]
Jordan, Michael [8 ]
Ma, Cindy [9 ]
Peng, Xiao [10 ]
McLaughlin, Heather [11 ]
van Zelm, Menno [12 ]
Lucas, Carrie [13 ]
Markle, Janet [14 ]
Puel, Anne [15 ]
Begtrup, Amber [16 ]
机构
[1] Baylor Coll Med, Houston, TX USA
[2] Univ N Carolina, Chapel Hill, NC USA
[3] Univ N Carolina, UNC Biocurat & Coordinat Core, Chapel Hill, NC USA
[4] Myraid, New York, NY USA
[5] Rockefeller Univ, New York, NY USA
[6] UCL, London, England
[7] Mt Sinai, New York, NY USA
[8] Univ Calif Berkeley, Dept Pediat, Berkeley, CA USA
[9] Garvan Inst Med Res, Darlinghurst, NSW, Australia
[10] Johns Hopkins Univ, Dept Med Genet, Sch Med, Baltimore, MD USA
[11] Pharming Healthcare Inc, Mol Diagnost, Warren, NJ USA
[12] Monash Univ, Clayton, Vic, Australia
[13] Yale Univ, New Haven, CT USA
[14] Vanderbilt Univ, Med Ctr, Nashville, TN USA
[15] INSERM, Necker Branch, Lab Human Genet Infect Dis, UMR1163, Paris, France
[16] GeneDX, Gaithersburg, MD USA
关键词
PIK3CD; APDS; Variant classification; ClinGen;
D O I
10.1016/j.clim.2024.110119
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
177
引用
收藏
页数:1
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