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Mendeliome

Gene: F8

Green List (high evidence)

F8 (coagulation factor VIII)
EnsemblGeneIds (GRCh38): ENSG00000185010
EnsemblGeneIds (GRCh37): ENSG00000185010
OMIM: 300841, Gene2Phenotype
F8 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 8:37 p.m. | Last Modified: 2 Jun 2021, 8:37 p.m.
Panel Version: 0.7761

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

Phenotypes
Haemophilia A, MIM# 306700; MONDO:0010602

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemophilia A, MIM# 306700
  • MONDO:0010602
  • Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071
OMIM
300841
Clinvar variants
Variants in F8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f8 has been classified as Green List (High Evidence).

2 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: F8 were changed from to Haemophilia A, MIM# 306700; MONDO:0010602

2 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: F8 were set to

2 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: F8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: F8 was added gene: F8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: F8 was set to Unknown