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Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Human mutation - 1 Dec 2020

Andersson Nadine G, Labarque Veerle, Letelier Anna, Mancuso Maria Elisa, Bührlen Martina, Fischer Kathelijn, Kartal-Kaess Mutlu, Koskenvuo Minna, Mikkelsen Torben, Ljung Rolf

Abstract excerpt

In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier and prenatal diagnosis and prediction of risk for the development of inhibitors. The PedNet Registry collects clinical, genetic, and phenotypic data prospectively on more than 2000 children with hemophilia. The genetic reports of F8/F9 gene variants were classified uniformly to Human Genome Variation Society nomenclature and...

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PMID: 32935414
DOI: 10.1002/humu.24117
PMCID: PMC7756260

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Source receipt: pubmed, retrieved 7 Sept 2026.

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