Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
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.
Authors
- Heather Mason‐Suares (ORCID: https://orcid.org/0000-0002-0146-4881)
- Hélène Cavé (ORCID: https://orcid.org/0000-0003-2840-1511)
- Martin Zenker (ORCID: https://orcid.org/0000-0003-1618-9269)
- Marina T. DiStefano (ORCID: https://orcid.org/0000-0002-8218-5111)
- Hannah McCurry
- Shoji Ichikawa (ORCID: https://orcid.org/0000-0001-6477-0520)
- Emma H. Wilcox (ORCID: https://orcid.org/0000-0003-4972-2947)
- Marco Tartaglia (ORCID: https://orcid.org/0000-0001-7736-9672)
- Madeline Y. Hughes
- Karen W. Gripp (ORCID: https://orcid.org/0000-0001-8200-1733)
- Lisa M. Vincent (ORCID: https://orcid.org/0000-0003-1348-7738)
- Kezang Tshering (ORCID: https://orcid.org/0000-0001-9619-3625)
- Bruce D. Gelb (ORCID: https://orcid.org/0000-0001-8527-5027)
- Hannah Dziadzio
- Jennifer A. Lee (ORCID: https://orcid.org/0000-0003-2890-7483)
- Ryan Webb (ORCID: https://orcid.org/0009-0003-2127-3550)
- Kate Garber
- Bradley A. Williams
Institutions
- Broad Institute (US)
- Emory University (US)
- Université Paris Cité (FR)
- Brown University (US)
- Community Health Systems - Dupont Hospital (US)
- Assistance Publique – Hôpitaux de Paris (FR)
- Child Health and Development Institute (US)
- Bambino Gesù Children's Hospital (IT)
- Natera (United States) (US)
- Hôpital Robert-Debré (FR)
- University Hospital Magdeburg (DE)
- Greenwood Genetic Center (US)
- Ambry Genetics (United States) (US)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Mass General Brigham (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103430
- Citations
- 7
- Primary Topic
- Protein Tyrosine Phosphatases
- Type
- article
- Field-Weighted Citation Impact
- 5.64
Funders
- National Human Genome Research Institute