Inherited bleeding disorders

Gene: F8

Green List (high evidence)

F8 (coagulation factor VIII)
EnsemblGeneIds (GRCh38): ENSG00000185010
EnsemblGeneIds (GRCh37): ENSG00000185010
OMIM: 300841, Gene2Phenotype
F8 is in 3 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

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

Phenotypes
Haemophilia A

BRIDGE consortium (NIHRBR-RD)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Haemophilia A
Tags
non-coding-known-pathogenic gene-therapy-trial
OMIM
300841
Clinvar variants
Variants in F8
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

F8 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

F8 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

F8 was created by ellenmcdonagh