ArticleGenetics in medicine open2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease.BMC medicine · 2026Pooled it
- Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.Clinical genetics · 2026Article
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- 22q11.2 duplication syndrome and LZTR1-related Noonan syndrome type 10 overlapping phenotypes in a dual diagnosis - fetal hydrops: a case report.BMC pregnancy and childbirth · 2026Article
- A newly discovered PAX7 variant associated with craniofacial duplication: a case report.BMC pregnancy and childbirth · 2026Article
- Severe Thrombocytopenia and Facial Asymmetry in a Mexican Patient with Noonan Syndrome-Like Disorder with Loose Anagen Hair: Clinical Observations and Diagnostic Considerations.Molecular syndromology · 2026Article
- From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.Human genomics · 2026Article
- Assessment of paralogue annotation for improving diagnostic accuracy inFrontiers in genetics · 2026Article
- Establishment of the endocrine variant extractor and its clinical application in identifying a novelFrontiers in endocrinology · 2026Article
- Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeq.bioRxiv : the preprint server for biology · 2025Article
- Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.Molecular syndromology · 2025Article
- Association ofBiomedicines · 2025Article
- Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.NPJ genomic medicine · 2025Article
- Case Report:Frontiers in endocrinology · 2025Article
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
Purpose: The ClinGen RASopathy (RAS) Variant Curation Expert Panel (VCEP) previously established RASopathy specifications to the American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) variant classification framework for more consistent and accurate variant classification. Advances in the understanding of RASopathies and new clinical genetic testing algorithms required updated specifications. Methods: The RAS Gene Curation Expert Panel recurated 6 gene-disease relationships, and the RAS VCEP evaluated the previous specifications to develop updated RASopathy specifications for the ACMG/AMP framework. The performance of these updated specifications was tested by reassessing 59 previously classified variants and 88 new pilot variants. Results: Five gene-disease relationships were upgraded to Definitive, whereas 1 was upgraded to Moderate. Updated specifications were applied to 11 ACMG/AMP criteria for disorders with a dominant inheritance, 3 criteria for recessive inheritance, and 4 criteria to align with recommendations from the ClinGen Sequence Variant Interpretation Working Group. Assessment of variants demonstrated no major shifts in classifications compared with previous RAS VCEP or ClinVar classifications. Conclusion: Updated RASopathy specifications improve the classification of variants associated with recessive disease and observed in exome/genome cases. Most of these specifications may also be used as a baseline for other rare Mendelian disorders.
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