Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH by Meiping Chen, Hui Miao, Hanting Liang, Xiaoan Ke, Hongbo Yang, Fengying Gong, Linjie Wang, Lian Duan, Shi Chen, Hui Pan, Huijuan Zhu

“…The results were evaluated using American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review by Yang Li, Yang Li, Lijuan Fan, Rong Luo, Zuozhen Yang, Meng Yuan, Meng Yuan, Jinxiu Zhang, Jinxiu Zhang, Jing Gan, Jing Gan

“…Both variants were classified as likely pathogenic according to the ACMG (American College of Medical Genetics and Genomics) guidelines and verified by Sanger sequencing.Conclusion: To date, three studies of O'Donnell-Luria-Rodan syndrome have been reported with heterogeneous clinical manifestations. …”
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Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age by Catherine A. Brownstein, Elise Douard, Robin L. Haynes, Hyun Yong Koh, Alireza Haghighi, Christine Keywan, Bree Martin, Sanda Alexandrescu, Elisabeth A. Haas, Sara O. Vargas, Monica H. Wojcik, Sébastien Jacquemont, Annapurna H. Poduri, Richard D. Goldstein, Ingrid A. Holm

“…CNVs are classified using the American College of Medical Genetics and Genomics guidelines and CNVs in our cohort are compared to an autism spectrum disorder (ASD) cohort, and to a control cohort. …”
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Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome by Hong-Yang Zhang, Chun-Yan Zhang, Fei Wang, Hai Tao, Ya-Ping Tian, Xi-Bin Zhou, Fang Bai, Peng Wang, Jia-Yi Cui, Min-Jie Zhang, Li-Hua Wang

“…The variant was confirmed by Sanger sequencing and classified as a “pathogenic mutation” according to the American College of Medical Genetics and Genomics (ACMG) variant interpretation guidelines. …”
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction by Kathryn O. Farley, Catherine A. Forbes, Nicole C. Shaw, Emma Kuzminski, Michelle Ward, Gareth Baynam, Timo Lassmann, Vanessa S. Fear

“…Our work supports the causal link between the genetic variant and the child’s phenotype, providing evidence for the variant to be considered a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines. In addition, our study provides molecular data on the role of PTCHD1 in the context of other neurodevelopmental disorders.…”
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Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome by Haifeng Feng, Hongen Xu, Hongen Xu, Bei Chen, Shuping Sun, Rongqun Zhai, Beiping Zeng, Wenxue Tang, Wenxue Tang, Wenxue Tang, Wei Lu

“…Their DNA was subjected to whole-exome sequencing to explore the underlying molecular etiology of BOR/BOS; candidate variants were validated using Sanger sequencing and interpreted in accordance with the American College of Medical Genetics guidelines. In addition, a literature review concerning EYA1 and SIX1 alterations was performed to explore the genotypes and phenotypes of BOR/BOS-related genes.Results: Genetic testing identified the novel deletion (c.1425delC, p(Asp476Thrfs*4); NM_000,503.6), a nonsense variant (c.889C > T, p(Arg297*)), and two splicing variants in the EYA1 gene (c.1050+1G > T and c.1140+1G > A); it also identified one novel missense variant in the SIX1 gene (c.316G > A, p(Val106Met); NM_005,982.4). …”
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The emerging clinical relevance of genomic profiling in neuroendocrine tumours by Guney Isa Burak, Sonmezler Ozge, Mujde Cem, Buyukdereli Gulgun, Dogruca Yapar Zeynep, Bisgin Atil

“…Through the germ-line studies, we observed a 50% positivity rate for disease predisposition with 16 variants classified according to ACMG (American College of Medical Genetics) Standards and Guidelines. Conclusions Genomic profiling medicine is an emerging area of clinical oncology and has become crucial for disease and patient management by providing a precision approach; this is especially true for rare diseases including rare cancers such as NETs. …”
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Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations by Huy-Hoang Nguyen, Ngoc Khanh Nguyen, Chi Dung Vu, Thi Thu Huong Nguyen, Thi Thu Huong Nguyen, Ngoc-Lan Nguyen, Ngoc-Lan Nguyen

“…The two mutations are evaluated as likely pathogenic and pathogenic, respectively, according to the recommendations of the American College of Medical Genetics and Genomics (ACMG). Genetic analyses in the families indicated the mothers were heterozygous.Conclusion: Clinical, biochemical, and molecular findings accurately diagnosed the two patients with late-onset OTCD. …”
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A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4 by Rosa Campopiano, Rosangela Ferese, Fabio Buttari, Cinzia Femiano, Diego Centonze, Diego Centonze, Francesco Fornai, Francesco Fornai, Francesca Biagioni, Maria Antonietta Chiaravalloti, Mauro Magnani, Emiliano Giardina, Emiliano Giardina, Anna Ruzzo, Stefano Gambardella, Stefano Gambardella

“…This variant, classified as a likely pathogenic variant according to American College of Medical Genetics (ACMG) guidelines, does not involve the kinase domain but falls in the fork-head-associated (FHA) domain. …”
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Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure by Tsunenori Saito, Naoko Saito Sato, Kosuke Mozawa, Akiko Adachi, Yoshihiro Sasaki, Kotoka Nakamura, Eiichiro Oka, Toshiaki Otsuka, Eitaro Kodani, Kuniya Asai, Kyoichi Mizuno, Wataru Shimizu, Roberta A. Gottlieb

“…The predicted pathogenicity of ultrarare (minor allele frequency ≤0.0005), non‐synonymous variants was determined using the American College of Medical Genetics guidelines. Focusing on 75 cardiomyopathy‐susceptibility and 41 arrhythmia‐susceptibility genes, we identified 404 gene variants, of which 15 were considered pathogenic or likely pathogenic in 14 patients (44% of 32). …”
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Expanding ACMG variant classification guidelines into a general framework by Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen

“…Abstract Background The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been widely used in medical genetics. …”
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Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer’s Disease by Yaling Jiang, Bin Jiao, Bin Jiao, Bin Jiao, Xinxin Liao, Xinxin Liao, Xinxin Liao, Xuewen Xiao, Xixi Liu, Lu Shen, Lu Shen, Lu Shen, Lu Shen

“…As a result, according to American College of Medical Genetics and Genomics (ACMG) guidelines, two novel likely pathogenic frame-shift mutations (GSN:c.1036delA:p.K346fs and GSN:c.8_35del:p.P3fs) were detected in five patients with AD, whose initial symptom was memory decline, accompanied with psychological and behavioral abnormalities later. …”
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Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families by Yixuan Cao, Xin Guan, Shan Li, Nan Wu, Xiumin Chen, Tao Yang, Bo Yang, Xiuli Zhao

“…Pathogenicity was assessed by conservation analysis, 3D protein modeling and in silico prediction, and was confirmed according to American College of Medical Genetics and Genomics. Results Three novel SE(M)D‐related variants c.1090dupG, c.7168 T > G, and c.2947G > C in ACAN, and one reported variant c.712C > T in PAPSS2 were identified. …”
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Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 by Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah

“…The variants were interpreted based on the American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss by Sloane Clay, Adele Evans, Regina Zambrano, David Otohinoyi, Chindo Hicks, Fern Tsien

“…The preliminary analysis followed the recommendations outlined by the American College of Medical Genetics and Association for Molecular Pathology (ACMG-AMP) in 2015 and 2019. …”
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Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci by Abdulrahman H. Al Anazi, Ahmed S. Ammar, Mahmoud Al-Hajj, Cyril Cyrus, Danah Aljaafari, Iname Khoda, Ahmed K. Abdelfatah, Abdullah A. Alsulaiman, Firas Alanazi, Rawan Alanazi, Divya Gandla, Hetal Lad, Samar Barayan, Brendan J. Keating, Amein K. Al-Ali

“…We also used an American College of Medical Genetics (ACMG) guideline-based variant prioritization approach in an attempt to discover putative causative variants. …”
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Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China by Yinfeng Liu, Jie Zheng, Yue Xu, Ji Lv, Zizheng Wu, Kai Feng, Jiani Liu, Weitao Yan, Liguang Wei, Jiangman Zhao, Lisha Jiang, Meng Han

“…Comprehensive genomic profiling was performed, categorizing identified rare variants according to the American College of Medical Genetics (ACMG) guidelines. In silico protein modeling was used to analyze potentially pathogenic variants’ impact on protein structure and function.Results: We detected 421 rare variants across patients. …”
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ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene by Aditi Mhaske, K.V. Dileep, Mukesh Kumar, Mukta Poojary, Kavita Pandhare, Kam Y.J. Zhang, Vinod Scaria, B.K. Binukumar

“…Each of the variants were systematically evaluated for evidences with respect to their pathogenicity and classified as per the American College of Medical Genetics and the Association of Molecular Pathologists (ACMG-AMP) guidelines into Pathogenic, Likely Pathogenic, Benign, Likely Benign and Variants of Uncertain Significance. …”
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An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder by Olivia J. Veatch, Merlin G. Butler, Sarah H. Elsea, Beth A. Malow, James S. Sutcliffe, Jason H. Moore

“…Starting with a list of all candidate genes implicated in all manifestations of ASD (i.e., idiopathic and syndromic), this pipeline uses databases that represent multiple lines of evidence to identify genes: (1) expressed in the human brain, (2) involved in ASD-relevant biological processes and resulting in analogous phenotypes in mice, (3) whose products are targeted by approved pharmaceutical compounds or possessing pharmacogenetic variation and (4) whose products directly interact with those of genes with variants recommended to be tested for by the American College of Medical Genetics (ACMG). Compared with 1000 gene sets, each with a random selection of human protein coding genes, more genes in the ASD set were annotated for each category evaluated (<i>p</i> ≤ 1.99 × 10⁻²). …”
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Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistan... by Tohru Yorifuji, Yoh Watanabe, Kana Kitayama, Yuki Yamada, Shinji Higuchi, Jun Mori, Masaru Kato, Toru Takahashi, Tokuko Okuda, Takane Aoyama

“…Pathogenic/likely pathogenic variants were listed according to the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria. …”
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