Work

P155: The ClinGen framework for naming monogenic diseases*

Year: 2024

Type: article

Abstract: The designation of an informative descriptor for each unitary and distinct monogenic disease entity is critical for clinical diagnosis and precision health care. Because a gene can be associated with more than one phenotype and vice versa, both the gene and a descriptive label should be considered when naming these disorders. Furthermore, genes that have been implicated in a relationship with more than one set of phenotypes can necessitate a process of lumping and splitting, and reorganization and updates to disease entities and their nomenclature.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101052

Authors: Courtney Thaxton, Leslie Biesecker, Marina DiStefano, Melissa Haendel, Emma Owens, Ada Hamosh, Sharon Plon, Heidi Rehm, Jonathan Berg

Institutions: University of North Carolina at Chapel Hill, National Human Genome Research Institute, Broad Institute, University of Colorado Anschutz, Johns Hopkins University, Baylor College of Medicine

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W4392606769

FWCI:

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