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| BabyScreen+ newborn screening v0.1721 | F7 | Zornitza Stark Tag for review was removed from gene: F7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1721 | F7 |
Zornitza Stark changed review comment from: Well established gene-disease association. Variable severity. Treatment: Recombinant coagulation Factor VIIa Non-genetic confirmatory testing: factor VII level; to: Well established gene-disease association. Variable severity. Treatment: Recombinant coagulation Factor VIIa Non-genetic confirmatory testing: factor VII level 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. Consider prophylaxis using rFVIIa in certain circumstances. Long term prophylaxis should be considered for cases with a personal or family history of severe bleeding or with FVII activity <0.01 IU/ml using rFVIIa, adjusting to maintain clinical response. Short term prophylaxis should be considered for cases for neonates without a personal or family history of severe bleeding but who have FVII activity 0.01-0.05 IU/ml up to 6-12 months of age. |
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| BabyScreen+ newborn screening v0.1698 | F7 | Zornitza Stark Marked gene: F7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1698 | F7 | Zornitza Stark Gene: f7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1698 | F7 |
Zornitza Stark Tag for review tag was added to gene: F7. Tag treatable tag was added to gene: F7. Tag haematological tag was added to gene: F7. |
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| BabyScreen+ newborn screening v0.1698 | F7 | Zornitza Stark edited their review of gene: F7: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1698 | F7 | Zornitza Stark reviewed gene: F7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor VII deficiency, MIM# 227500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | F7 |
Zornitza Stark gene: F7 was added gene: F7 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500 |
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