P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency* by Shruthi Mohan, Renee Geck, Shawn Fayer, Roseann Donnelly, Mary Relling, Tom Vulliamy, Kelly Caudle, Amber Waddell, Essence Kendall, Gonzalo Domingo, Angelo Minucci, Benedikt Ley, Cindy Chu, Cyrine Haidar, Howard McLeod, Josef Prchal, Mahmoud Sirdah, Vimla Aggarwal, Weiying Jiang, Emily Kyle, Meredith Weaver, Michelle Whirl-Carrillo, Andrew Stergachis

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O10: Implications of two population-based genetic studies of breast cancer on hereditary cancer gene curation using the ClinGen gene-disease validity framework* by Julius Militante, Sheng-An Yang, Deborah Ritter, Sharon Plon

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Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene by Yuqing Xu, Yuqing Xu, Linyan Zhu, Yeqing Qian, Yeqing Qian, Minyue Dong, Minyue Dong

“…Q565*) was classified as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics by Jessie M. Cameron, Mayowa Azeez Osundiji, Rory J. Olson, Bukola A. Olarewaju, Andreas Schulze

“…Here, we incorporate American College of Medical Genetics and Genomics/Association for Molecular Pathology–developed guidelines for interpreting gene variants and in silico predictions to select allele frequencies for estimation of global birth prevalence of ARG1 deficiency. …”
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Scope of genetic testing for inherited cardiovascular diseases in the clinical practice by Advithi Rangaraju, Ashwin Dalal

“…Since cardiomyopathies and channelopathies have become actionable because of new interventional therapies, this article highlights the importance and need of genetic testing for inherited cardiac disorders by practicing cardiologists, in-view of the American College of Medical Genetics, American College of Cardiology, European Heart Rhythm Association guidelines. …”
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PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels by Jörg Schmidtke, Peter Philipp, Kathrin Rommel, Ralf Glaubitz, Jörg T. Epplen, Michael Krawczak

“…In addition, PanelDesign can be used to evaluate the contribution of different genes to a given disease following ACMG (American College of Medical Genetics) technical standards.…”
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Infant Alstrom syndrome diagnosed by a new gene mutation: a case report by Yujiao Ye, Xianmin Wang, Guixia Li, Xia Xiao, Xuehong Ji

“…Both mutations are classified as “category 1-pathogenic mutations” according to the American College of Medical Genetics and Genomics (ACMG) assessment. …”
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Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation. by Zahra Ataei, Zahra Nouri, Farial Tavakoli, Mohammad Reza Pourreza, Sina Narrei, Mohammad Amin Tabatabaiefar

“…Variant interpretation was done based on the American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Tricho-rhino-phalangeal Syndrome with Growth Hormone Deficiency: a Case Report and Literature Review by CHEN Bo, LIU Qing

“…The gene detection showed that the heterozygous frameshift mutation of TRPS1_ex6 c.2725dupT (p.Cys909Leufs*42) was a new mutation, and defined as a pathogenic variant according to the American College of Medical Genetics and Genomics. The patient was treated with recombinant human growth hormone after the diagnosis, and was found with increased height without treatment-related side effects such as increased intracranial pressure and hypothyroidism during a 14-month follow-up.…”
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A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family by Karimzadeh P, Parvizi Omran S, Ghaedi H, Omrani MD

“…Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G>T was likely pathogenic. …”
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Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. by Anna Kostareva, Artem Kiselev, Alexandra Gudkova, Goar Frishman, Andreas Ruepp, Dmitrij Frishman, Natalia Smolina, Svetlana Tarnovskaya, Daniel Nilsson, Anna Zlotina, Tatiana Khodyuchenko, Tatiana Vershinina, Tatiana Pervunina, Alexandra Klyushina, Andrey Kozlenok, Gunnar Sjoberg, Irina Golovljova, Thomas Sejersen, Eugeniy Shlyakhto

“…Pathogenicity of genetic variants was classified according to American College of Medical Genetics and Genomics classification. …”
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DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features by Federica Luppino, Ivan A. Adzhubei, Christopher A. Cassa, Agnes Toth-Petroczy

“…Here, we develop Deciphering Mutations in Actionable Genes (DeMAG), a supervised classifier for missense variants trained using extensive diagnostic data available in 59 actionable disease genes (American College of Medical Genetics and Genomics Secondary Findings v2.0, ACMG SF v2.0). …”
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Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research by Natsuko Aida, Tatsukuni Ohno, Toshifumi Azuma

“…In total, 26 mutant variants were detected based on the American College of Medical Genetics and Genomics (ACMC). To date, there has been no comprehensive compilation of HCS mutations. …”
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Screening of genes interacting with high myopia and neuropsychiatric disorders by Yang Liu, Yang Liu, Wen Zhang, Zhong-Qi Xue, Fang-Xia Zhang, Wei-Gang Xu, Wen-Juan Zhuang

“…We used whole exome sequencing (WES) in combination with the Genetic Variants Classification Criteria and Guidelines published by the American College of Medical Genetics (ACMG) and bioinformatics analysis to clarify the interrelationship between candidate genes. …”
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The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia by Shanghua Fan, Ting Zhao, Liu Sun

“…Methods The pathogenicity of TMPRSS6 variants was interpreted according to the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) standards and guidelines. …”
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Compilation of Genotype and Phenotype Data in <i>GCDH</i>-LOVD for Variant Classification and Further Application by Alexandra Tibelius, Christina Evers, Sabrina Oeser, Isabelle Rinke, Anna Jauch, Katrin Hinderhofer

“…With these data, we developed a <i>GCDH</i>-specific variation classification framework based on American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines. …”
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A novel mutation in COL10A1 gene causes Schmid type metaphyseal achondroplasia by LI Baiqing, ZHU Xintong, GUO Hong

“…Bioinformatics analysis was performed in combination with American College of Medical Genetics (ACMG) guidelines to evaluate the pathogenicity of the variants. …”
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Utility of Telomerase Gene Mutation Testing in Patients with Idiopathic Pulmonary Fibrosis in Routine Practice by Julij Šelb, Katarina Osolnik, Izidor Kern, Peter Korošec, Matija Rijavec

“…Pathogenic/likely-pathogenic variants (according to American College of Medical Genetics criteria) in TCG were found in three individuals (11.1%) of the whole cohort; specifically, they were present in 2 out of 24 (8.3%) of the sporadic and in 1 out of 3 (33.3%) of the patients with familial IPF. …”
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Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19 by Taravat Talebi, Tannaz Masoumi, Katayoun Heshmatzad, Mahshid Hesami, Majid Maleki, Samira Kalayinia

“…We evaluated the identified variants based on the predictive performance of 5 deleteriousness-scoring methods and the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais by Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk

“…Abstract Background People with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of Medical Genetics and Genomics (ACMG) recommends screening 113 genes known to cause autosomal recessive and X-linked conditions in couples seeking to learn about their risk of having children with these disorders to have an appropriate reproductive plan. …”
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