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Article

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021

Crawford Katherine, Xian Julie, Helbig Katherine L, Galer Peter D, Parthasarathy Shridhar, Lewis-Smith David, Kaufman Michael C, Fitch Eryn, Ganesan Shiva, O'Brien Margaret, Codoni Veronica, Ellis Colin A, Conway Laura J, Taylor Deanne, Krause Roland, Helbig Ingo

Abstract excerpt

PURPOSE: Pathogenic variants in SCN2A cause a wide range of neurodevelopmental phenotypes. Reports of genotype-phenotype correlations are often anecdotal, and the available phenotypic data have not been systematically analyzed. METHODS: We extracted phenotypic information from primary descriptions of SCN2A-related disorders in the literature between 2001 and 2019, which we coded in Human Phenotype Ontology (HPO)...

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Identifiers

PMID: 33731876
DOI: 10.1038/s41436-021-01120-1
PMCID: PMC8257493

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