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  3. F9
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Factor IX deficiency

Gene: F9

Green List (high evidence)
F9 (coagulation factor IX)
EnsemblGeneIds (GRCh38): ENSG00000101981
EnsemblGeneIds (GRCh37): ENSG00000101981
OMIM: 300746, Gene2Phenotype
F9 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #300807 & #306900) and the OMIM records were last accessed on 17 December 2025.
Created: 18 Dec 2025, midnight | Last Modified: 18 Dec 2025, midnight
Panel Version: 1.2
F9 has been added to the panel for R118 Factor IX deficiency with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 12:59 p.m. | Last Modified: 30 Jun 2023, 12:59 p.m.
Panel Version: 0.1

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

Created: 30 Jun 2023, 12:59 p.m.
Last Modified: 30 Jun 2023, 12:59 p.m.
Panel version: 0.1

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Thrombophilia, X-linked, due to factor IX defect, OMIM:300807
  • Hemophilia B, OMIM:306900
  • hemophilia B, MONDO:0010604
  • thrombophilia, X-linked, due to factor 9 defect, MONDO:0010432
OMIM
300746
Clinvar variants
Variants in F9
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: F9 were changed from to Thrombophilia, X-linked, due to factor IX defect, OMIM:300807; Hemophilia B, OMIM:306900; hemophilia B, MONDO:0010604; thrombophilia, X-linked, due to factor 9 defect, MONDO:0010432

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: F9 was added gene: F9 was added to Factor IX deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females