Recommendations from the ClinGen SCID VCEP: Implementation of ACMG/AMP Variant Curation Guidelines for Severe Combined Immunodeficiency Disease

被引：0

作者：

Jacovas, Vanessa ^{[1
]}

Zelnick, Michelle ^{[1
]}

Cowan, Morton ^{[2
]}

Ghosh, Rajarshi ^{[3
]}

Hershfield, Michael ^{[4
]}

Puck, Jennifer ^{[5
]}

Verbsky, James ^{[6
]}

Walter, Jolan ^{[7
]}

Yuan, Bo ^{[1
]}

Martin, Shiloh ^{[8
]}

Pan, Xueyang ^{[1
]}

McNulty, Shannon ^{[9
]}

Johnson, Britt ^{[8
]}

Chinn, Ivan ^{[10
]}

机构：

[1] Baylor Coll Med, Houston, TX USA

[2] Univ Calif San Francisco, Allergy Immunol & Blood & Marrow Transplant Div, San Francisco, CA USA

[3] NIAID, NIH, Bethesda, MD USA

[4] Duke Univ, Med Rheumatol & Immunology, Dept Internal Med, Durham, NC USA

[5] Univ Calif San Francisco, Div Pediat Allergy Immunol & Blood & Marrow Trans, San Francisco, CA USA

[6] Med Coll Wisconsin, Clin Immunol Res Lab & Translat Res, Madison, WI USA

[7] Univ S Florida, Tampa, FL USA

[8] Invitae, San Francisco, CA USA

[9] Univ N Carolina, Lab Genet & Genom, Dept Pathol & Lab Med, Chapel Hill, NC 27599 USA

[10] Baylor Coll Med, Dept Pediat, Div Immunol Allergy & Retrovirol, Houston, TX USA

来源：

CLINICAL IMMUNOLOGY | 2023年 / 250卷

关键词：

SCID; ClinGen; ACMG/AMP guidelines;

D O I：

10.1016/j.clim.2023.109607

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

262

引用

页码：156 / 156

页数：1

共 13 条

[1] Specifications of ACMG/AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants: Recommendations by ClinGen's Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
Ross, Justyne
McLean, Benjamin
Leon-Lozano, Grace
Jacovas, Vanessa
Zelnick, Michelle
Chan, Alice
van Oers, Nicolai
Johnson, Britt
Chinn, Ivan
CLINICAL IMMUNOLOGY, 2024, 262
[2] Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
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Young, Terri L.
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[3] ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
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Tong, Howard
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Iacocca, Michael A.
Pineda, Arturo Lopez
Popejoy, Alice B.
Dalton, Karen
Zhen, Jimmy
Dwight, Selina S.
Babb, Lawrence
DiStefano, Marina
O'Daniel, Julianne M.
Lee, Kristy
Riggs, Erin R.
Zastrow, Diane B.
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Berg, Jonathan S.
Rehm, Heidi L.
Plon, Sharon E.
Cherry, J. Michael
Bustamante, Carlos D.
Costa, Helio A.
GENOME MEDICINE, 2022, 14 (01)
[4] ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
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Howard Tong
Shaung Cheng
Michael A. Iacocca
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Karen Dalton
Jimmy Zhen
Selina S. Dwight
Lawrence Babb
Marina DiStefano
Julianne M. O’Daniel
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Diane B. Zastrow
Jessica L. Mester
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Genome Medicine, 14
[5] Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel
Goldstein, Jennifer L.
Mcglaughon, Jennifer
Kanavy, Dona
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Pan, Yinghong
Deml, Brett
Donti, Taraka
Kearns, Liz
Seifert, Bryce A.
Schachter, Miriam
Son, Rachel G.
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Bali, Deeksha
Baudet, Heather
Caggana, Michele
Hung, Christina
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Rosenblum, Lynne
Steiner, Robert
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MOLECULAR GENETICS AND METABOLISM, 2023, 140 (1-2)
[6] SPECIFICATION OF ACMG/AMP GUIDELINES FOR STANDARDIZED VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA: ON BEHALF OF THE CLINGEN FH VARIANT CURATION EXPERT PANEL
Iacocca, M. A.
Chora, J. R.
Freiberger, T.
Carrie, A.
Sijbrands, E. J.
Wand, H.
Williams, M.
Zimmermann, H.
Leon, A.
Kurtz, C. L.
Tichy, L.
Alves, A. C.
Wang, J.
Cuchel, M.
Humphries, S. E.
Defesche, J. C.
Mata, P.
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Hegele, R. A.
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ATHEROSCLEROSIS, 2020, 315 : E5 - E5
[7] Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel
Kountouris, Petros
Stephanou, Coralea
Lederer, Carsten W.
Traeger-Synodinos, Joanne
Bento, Celeste
Harteveld, Cornelis L.
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Koopmann, Tamara T.
Halim-Fikri, Hashim
Michailidou, Kyriaki
Nfonsam, Landry E.
Waye, John S.
Zilfalil, Bin A.
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HUMAN MUTATION, 2022, 43 (08) : 1089 - 1096
[8] ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation
Rivera-Munoz, Edgar A.
Milko, Laura V.
Harrison, Steven M.
Azzariti, Danielle R.
Kurtz, C. Lisa
Lee, Kristy
Mester, Jessica L.
Weaver, Meredith A.
Currey, Erin
Craigen, William
Eng, Charis
Funke, Birgit
Hegde, Madhuri
Hershberger, Ray E.
Mao, Rong
Steiner, Robert D.
Vincent, Lisa M.
Martin, Christa L.
Plon, Sharon E.
Ramos, Erin
Rehm, Heidi L.
Watson, Michael
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HUMAN MUTATION, 2018, 39 (11) : 1614 - 1622
[9] ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel (XLIRD VCEP): RPGR Curation Progress, and Initial modified ACMG criteria for RS1 and CHM
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Sullivan, Lori S.
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
[10] Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Parsons, Michael T.
de la Hoya, Miguel
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Tudini, Emma
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AMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (09)

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