Bleeding and Platelet Disorders
Gene: F8
Haemophilia A is caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal.
Well established gene-disease association.Created: 2 Jun 2021, 8:34 p.m. | Last Modified: 2 Jun 2021, 8:34 p.m.
Panel Version: 0.248
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Haemophilia A, MIM# 306700
Publications
Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700; MONDO:0010602 to Haemophilia A, MIM# 306700; MONDO:0010602; Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071
Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700 to Haemophilia A, MIM# 306700; MONDO:0010602
Gene: f8 has been classified as Green List (High Evidence).
Phenotypes for gene: F8 were changed from to Haemophilia A, MIM# 306700
Publications for gene: F8 were set to
Mode of inheritance for gene: F8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: F8 was added gene: F8 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: F8 was set to Unknown