Factor XI deficiency
Gene: F11EnsemblGeneIds (GRCh38): ENSG00000088926
EnsemblGeneIds (GRCh37): ENSG00000088926
OMIM: 264900, Gene2Phenotype
F11 is in 3 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #612416) and the OMIM record was last accessed on 18 December 2025.Created: 18 Dec 2025, 10:42 a.m. | Last Modified: 18 Dec 2025, 10:42 a.m.
Panel Version: 1.2
F11 has been added to the panel for R120 Factor XI deficiency with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:06 p.m. | Last Modified: 30 Jun 2023, 1:06 p.m.
Panel Version: 0.1
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Factor XI deficiency, autosomal dominant, OMIM:612416
- Factor XI deficiency, autosomal recessive, OMIM:612416
- congenital factor XI deficiency, MONDO:0012897
- OMIM
- 264900
- Clinvar variants
- Variants in F11
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: F11 were changed from to Factor XI deficiency, autosomal dominant, OMIM:612416; Factor XI deficiency, autosomal recessive, OMIM:612416; congenital factor XI deficiency, MONDO:0012897
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: F11 was added gene: F11 was added to Factor XI deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal