Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel-Reference-Cited by-同舟云学术

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

Published:2021-09-24 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kountouris Petros¹²^ORCID,Stephanou Coralea¹^ORCID,Lederer Carsten W.¹²^ORCID,Traeger‐Synodinos Joanne³^ORCID,Bento Celeste⁴,Harteveld Cornelis L.⁵^ORCID,Fylaktou Eirini³^ORCID,Koopmann Tamara T.⁵,Halim‐Fikri Hashim⁶^ORCID,Michailidou Kyriaki²⁷^ORCID,Nfonsam Landry E.⁸⁹^ORCID,Waye John S.⁸⁹^ORCID,Zilfalil Bin A.⁶^ORCID,Kleanthous Marina¹²,Variant Curation Expert Panel On behalf of ClinGen Hemoglobinopathy

Affiliation:

1. Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology and Genetics Nicosia Cyprus

2. Cyprus School of Molecular Medicine Nicosia Cyprus

3. Laboratory of Medical Genetics, St. Sophia's Children's Hospital National and Kapodistrian University of Athens Athens Greece

4. Department of Haematology Centro Hospitalar e Universitário de Coimbra Coimbra Portugal

5. Department of Clinical Genetics/LDGA Leiden University Medical Center Leiden Netherlands

6. School of Medical Sciences Universiti Sains Malaysia Malaysia

7. Biostatistics Unit The Cyprus Institute of Neurology and Genetics Nicosia Cyprus

8. Hamilton Regional Laboratory Medicine Program Hamilton Health Sciences Hamilton Canada

9. Department of Pathology and Molecular Medicine McMaster University Hamilton Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24280

Reference31 articles.

1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2. A method and server for predicting damaging missense mutations

3. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

4. Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis

5. Molecular basis of α-thalassemia

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