Inherited bleeding disorders
Gene: F8Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:37 a.m.
Non-coding-known-pathogenic c.*56G>T variant segregates in 3 affected family members. In silico analysis predicts creation of a new donor splice site, (detected at mRNA level), resulting in a 159 bp deletion in 3' UTR of F8. Variant showed reduced expression of the gene reporter firefly luciferase in cell line expression analysis. Results suggest patient specific c.*56G>T to be a disease-associated variant resulting in alternative splicing and the mild haemophilia A phenotype (PMID 27216882)Created: 2 May 2017, 8:58 a.m.
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Haemophilia A
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Haemophilia A
Variants in this GENE are reported as part of current diagnostic practice
Revised 19 December 2016
F8 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
F8 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
F8 was created by ellenmcdonagh