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Factor II deficiency

Gene: F2

Green List (high evidence)

F2 (coagulation factor II, thrombin)
EnsemblGeneIds (GRCh38): ENSG00000180210
EnsemblGeneIds (GRCh37): ENSG00000180210
OMIM: 176930, Gene2Phenotype
F2 is in 4 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 (MIM #613679) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 11:56 p.m. | Last Modified: 17 Dec 2025, 11:56 p.m.
Panel Version: 1.2
F2 has been added to the panel for R112 Factor II deficiency with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 12:58 p.m. | Last Modified: 30 Jun 2023, 12:58 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dysprothrombinemia, OMIM:613679
  • Hypoprothrombinemia, OMIM:613679
  • congenital prothrombin deficiency, MONDO:0013361
OMIM
176930
Clinvar variants
Variants in F2
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: F2 were changed from to Dysprothrombinemia, OMIM:613679; Hypoprothrombinemia, OMIM:613679; congenital prothrombin deficiency, MONDO:0013361

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: F2 was added gene: F2 was added to Factor II deficiency. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal