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| Genomic newborn screening: ICoNS v0.22 | F9 | Zornitza Stark Marked gene: F9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.22 | F9 | Zornitza Stark Gene: f9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.22 | F9 | Zornitza Stark Phenotypes for gene: F9 were changed from Hemophilia B to Haemophilia B, MIM# 306900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.21 | F9 | Zornitza Stark Publications for gene: F9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.20 | F9 | Zornitza Stark Classified gene: F9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.20 | F9 | Zornitza Stark Gene: f9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | F9 | Zornitza Stark reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | F9 |
Jorune Balciuniene changed review comment from: Well established gene-disease association. Mechanism: hemizygous loss of function variants in males, but heterozygous females may present with mild clinical symptoms due to nonrandom X-inactivation. Incidence: 1 per 25-30K males births with >40 % having severe disease. Clinical disease types: Severe hemophilia B: < 1% normal FIX level. Usually diagnosed during the first two years of life. Characterized by spontaneous bleedings if not treated. Moderate hemophilia B: 1-5% normal FIX levels. Prolonged bleeding after trauma, diagnosed before the age of 5. Mild hemophilia B: 5- 40% normal FIX levels. Typically, no spontaneous bleedings, not diagnosed until later in life. Pathogenic variants: >1300 pathogenic variants, mostly point mutations, but also partial and full gene deletions. Medical management informing pathogenic variants • Complete gene deletions or major rearrangements are associated with severe anaphylactic reactions upon FIX replacement therapy. High risk for developing FIX inhibitors (> 50 %). • Point mutations in promoter region (5'UTR) associated with Hemophilia B Leyden, characterized by developmental expression of FIX post puberty. At childhood, FIX levels are <1%, and increase with growth reaching up to 70% of normal levels. Anabolic steroids can help raise FIX levels. • Missense variants in the FIX propeptide sequence causing reduced affinity to vitamin- dependent carboxylase. These individuals have normal levels of FIX, but develop unexpected reduction of FIX upon administration of vitamin K antagonists (e.g. warfarin) Treatment: • Factor replacement therapy: Prophylaxis and early treatment • Non-factor therapies: available for patients >12 y of age. • Adeno-associated virus gene therapy: for adult males with <2% of FIX levels • Surveillance and Supportive care PMIDs: 16643212, 25851415, 3286010, 3416069, 35269902 https://www.cdc.gov/hemophilia/mutation-project/index.html; to: Well established gene-disease association. Mechanism: hemizygous loss of function variants in males, but heterozygous females may present with mild clinical symptoms due to nonrandom X-inactivation. Incidence: 1 per 25-30K males births with >40 % having severe disease. Clinical disease types: Severe hemophilia B: < 1% normal FIX level. Usually diagnosed during the first two years of life. Characterized by spontaneous bleedings if not treated. Moderate hemophilia B: 1-5% normal FIX levels. Prolonged bleeding after trauma, diagnosed before the age of 5. Mild hemophilia B: 5- 40% normal FIX levels. Typically, no spontaneous bleedings, not diagnosed until later in life. Pathogenic variants: >1300 pathogenic variants, mostly point mutations, but also partial and full gene deletions. Medical management informing pathogenic variants • Complete gene deletions or major rearrangements are associated with severe anaphylactic reactions upon FIX replacement therapy. High risk for developing FIX inhibitors (> 50 %). • Point mutations in promoter region (5'UTR) associated with Hemophilia B Leyden, characterized by developmental expression of FIX post puberty. At childhood, FIX levels are <1%, and increase with growth reaching up to 70% of normal levels. Anabolic steroids can help raise FIX levels. • Missense variants in the FIX propeptide sequence causing reduced affinity to vitamin-K dependent carboxylase. These individuals have normal levels of FIX, but develop unexpected reduction of FIX upon administration of vitamin K antagonists (e.g. warfarin) Treatment: • Factor replacement therapy: Prophylaxis and early treatment • Non-factor therapies: available for patients >12 y of age. • Adeno-associated virus gene therapy: for adult males with <2% of FIX levels • Surveillance and Supportive care PMIDs: 16643212, 25851415, 3286010, 3416069, 35269902 https://www.cdc.gov/hemophilia/mutation-project/index.html |
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| Genomic newborn screening: ICoNS v0.16 | F9 | Jorune Balciuniene reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301668, 32809627; Phenotypes: Hemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.7 | F9 |
Jorune Balciuniene gene: F9 was added gene: F9 was added to Genomic newborn screening: ICoNS. Sources: Expert list Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: F9 were set to Hemophilia B Penetrance for gene: F9 were set to Complete |
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