Newborns main panel

Gene: F9

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

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

F9 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

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 B