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  3. F8
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Factor VIII deficiency

Gene: F8

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #306700) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 10:38 a.m. | Last Modified: 18 Dec 2025, 10:38 a.m.
Panel Version: 1.2
F8 has been added to the panel for R117 Factor VIII deficiency with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 1:03 p.m. | Last Modified: 30 Jun 2023, 1:03 p.m.
Panel Version: 0.1

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

Created: 30 Jun 2023, 1:03 p.m.
Last Modified: 30 Jun 2023, 1:03 p.m.
Panel version: 0.1

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hemophilia A, OMIM:306700
  • hemophilia A, MONDO:0010602
OMIM
300841
Clinvar variants
Variants in F8
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: F8 were changed from to Hemophilia A, OMIM:306700; hemophilia A, MONDO:0010602

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: F8 was added gene: F8 was added to Factor VIII deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females