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Gene: F7

Green List (high evidence)

Well established gene-disease association.

Variable severity.

Rated as 'strong actionability' in paediatric patients by ClinGen.

Clinical expression of factor VII deficiency is highly variable, and no consistent relationship has been found between the severity of the hemorrhagic syndrome and the residual levels of FVII activity. Individuals can be completely asymptomatic despite a very low FVII level. A bleeding history appears more predictive of further bleeding than the factor VII level. Factor VII levels increase during pregnancy, but levels usually remain insufficient for hemostasis in severely affected cases. Individuals with no history of bleeding do not appear to be at increased risk of PPH. Heterozygotes often have approximately half-normal levels of coagulation factors and are often asymptomatic. However, up to 2% of patients with severe bleeding phenotype are heterozygotes.

Created: 14 Nov 2024, 5:23 a.m. | Last Modified: 14 Nov 2024, 5:23 a.m.

Panel Version: 1.547

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor VII deficiency, MIM# 227500

Variants in this GENE are reported as part of current diagnostic practice