Prepair 1000+

Gene: F5

I don't know

Well established gene-disease association. Variants resulting in the absence or dysfunction of activated factor V lead to haemorrhagic disease. AD variants can result in excessive longevity of the active factor V, cause thrombosis.

Variable age of onset and severity of haemorrhagic disease. At severe end of phenotype - life threatening haemorrhage can occur, but severe instances are rare.

Created: 2 Sep 2024, 6:21 a.m. | Last Modified: 2 Sep 2024, 6:21 a.m.

Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor V deficiency MIM#227400

Publications

• 35593819 31121608

I don't know

Severe presentations are rare.

Created: 9 Sep 2022, 5:23 a.m. | Last Modified: 9 Sep 2022, 5:23 a.m.

Panel Version: 0.179

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor V deficiency (MIM#227400)

Red List (low evidence)

Well established gene disease association however this gene also confers susceptibility to other conditions which are not reportable in a carrier screening context.

Time consuming and low yield.

Created: 15 Jul 2022, 12:51 a.m. | Last Modified: 15 Jul 2022, 12:51 a.m.

Panel Version: 0.49

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

Phenotypes
Factor V deficiency (MIM#227400)