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Newborns main panel

Gene: F8

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: Haematologists would like to exclude mild variants where treatment would not be required. Consider MDT if uncertain whether to report variant(s).
Created: 26 Sep 2024, 12:41 p.m. | Last Modified: 26 Sep 2024, 12:41 p.m.
Panel Version: 0.469
Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Coagulation Factor Deficiency Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50041/
Created: 26 Sep 2024, 12:40 p.m. | Last Modified: 26 Sep 2024, 12:40 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 12:40 p.m.
Last Modified: 26 Sep 2024, 12:40 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
F8 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Exon 22 and exon 1 inversions are common genotypes in severe haemophilia A
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
MOI reviewed by clinical team. Mafalda Gomes comment: Most heterozygous female carriers of hemophilia A or hemophilia B (306900) have concentrations of clotting factor VIII or IX (F9; 300746) of about 50% of normal, respectively, and in most cases have mildly decreased coagulability without clinical signs.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.
Panel Version: 0.40

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

Phenotypes
Haemophilia A

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Haemophilia A
Tags
special_consideration
OMIM
300841
Clinvar variants
Variants in F8
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: F8.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Haemophilia A for gene: F8

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene F8 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Haemophilia A for gene: F8

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Haemophilia A for gene: F8

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to F8. Added phenotypes Haemophilia A for gene: F8 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to F8. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Haemophilia A for gene: F8

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: F8 was added gene: F8 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females