Inherited bleeding disorders

Gene: F8

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412

Created: 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

• 27216882

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Haemophilia A

Green List (high evidence)

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