Newborns main panel
Gene: F7

F7 (coagulation factor VII)
EnsemblGeneIds (GRCh38): ENSG00000057593
EnsemblGeneIds (GRCh37): ENSG00000057593
OMIM: 613878, Gene2Phenotype
F7 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Only report LOF variants.

Additional Information: Haematologists advised only reporting biallelic LOF/null variants to avoid reporting those with mild phenotypes which would not require any intervention. Consider MDT if uncertain whether to report variant(s).
Created: 26 Sep 2024, 12:36 p.m. | Last Modified: 26 Sep 2024, 12:36 p.m.

Panel Version: 0.469

Created: 26 Sep 2024, 12:36 p.m.
Last Modified: 26 Sep 2024, 12:36 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

F7 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

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Factor VII deficiency

Tags

special_consideration

OMIM

613878

Clinvar variants

Variants in F7

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: F7.

14 Sep 2023, Gel status: 3