Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.
Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.
Results: From April 2020 through March 2024, 38 precurations were performed on genes with multiple disease relationships and were reviewed to determine if the disorders were part of a spectrum or distinct entities. 14 genes were lumped into a single disease entity and 24 were split into separate entities, of which 11 were curated by the SD-GCEP. A full review of 111 GDRs for 100 genes followed, with 78 classified as Definitive, 9 as Strong, 15 as Moderate, and 9 as Limited highlighting where further data are needed. All diseases involved two or more organ systems, while the majority (88/111 GDRs, 79.2%) had five or more organ systems affected.
Conclusion: The SD-GCEP addresses a critical gap in gene curation efforts, enabling inclusion of genes for syndromic disorders in clinical testing and contributing to keeping pace with the rapid discovery of new genetic syndromes.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601709 | PMC |
| http://dx.doi.org/10.1101/2024.11.19.24317561 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pain, Agitation, Delirium, and Iatrogenic Withdrawal Syndrome Management in Children Who Are Critically Ill: Protocol for a European Clinical Practice Guideline Using the Grading of Recommendations Assessment, Development, and Evaluation Approach.
JMIR Res Protoc
September 2025
Institute of Higher Education and Research in Healthcare, Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
Background: In pediatric intensive care units, pain, sedation, delirium, and iatrogenic withdrawal syndrome (IWS) must be managed as interrelated conditions. Although clinical practice guidelines (CPGs) exist, new evidence needs to be incorporated, gaps in recommendations addressed, and recommendations adapted to the European context.
Objective: This protocol describes the development of the first patient- and family-informed European guideline for managing pain, sedation, delirium, and IWS by the European Society of Paediatric and Neonatal Intensive Care.
Cost-Effectiveness of Treatment for Opioid Use Disorder in Pregnancy and Its Impact on Birth Outcomes.
JAMA Pediatr
September 2025
Department of Health Policy and Management, Rollins School of Public Health, Emory University, Atlanta, Georgia.
Importance: For the first time in nearly 2 decades, the US infant mortality rate has increased, coinciding with a rise in overdose-related deaths as a leading cause of pregnancy-associated mortality in some states. Prematurity and low birth weight-often linked to opioid use in pregnancy-are major contributors.
Objective: To assess the health and economic impact of perinatal opioid use disorder (OUD) treatment on maternal and postpartum health, infant health in the first year of life, and infant long-term health.
The Safety Profile of Belzutifan in Renal Tumors: Real-World Data from a Tertiary Academic Center.
Oncologist
September 2025
Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Background: Belzutifan is a HIF-2ɑ inhibitor approved for the treatment of tumors in von Hippel-Lindau (VHL) syndrome and sporadic metastatic clear cell renal cell carcinoma (spRCC) in the refractory setting. The efficacy and side effects of belzutifan are well-documented from clinical trials, however, real-world data examining the incidence and management of adverse events (AEs) are lacking. Our study aims to describe the AE profiles of belzutifan in spRCC and VHL populations.
View Article and Find Full Text PDFRe-do VATS for recurrent pneumothorax in a Birt-Hogg-Dubé syndrome patient.
Multimed Man Cardiothorac Surg
September 2025
Institute of Chest Surgery, Medanta, Gurugram, India
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder caused by mutation in a tumour suppressor gene, FLCN, leading to skin tumours (fibrofolliculomas), renal tumours and pulmonary cysts. Lung involvement is predominantly observed in 70% of the cases of BHDS, manifesting in the form of recurrent primary spontaneous pneumothorax. This video tutorial showcases the surgical management of recurrent right primary spontaneous pneumothorax in a young adult with a history of multiple episodes of bilateral pneumothorax managed by surgical intervention previously.
View Article and Find Full Text PDFPost-Exposure Prophylaxis: For Sexual Exposure in the LGBTQIA+ Community.
Adv Emerg Nurs J
September 2025
Author Affiliations: San Diego State University School of Nursing, San Diego, California.
Human immunodeficiency viruses (HIV) and, subsequently, acquired immune deficiency syndrome emphasize the significance of prevention and treatment, especially among vulnerable populations. Some subgroups of the LGBTQIA+ community, namely men who have sex with men (MSM) and transgender individuals, can be disproportionately affected by this disease. As the health care community recognizes this health concern, post-exposure prophylaxis has become important in preventing HIV spread.
View Article and Find Full Text PDF