Inherited bleeding disorders
Gene: F11EnsemblGeneIds (GRCh38): ENSG00000088926
EnsemblGeneIds (GRCh37): ENSG00000088926
OMIM: 264900, Gene2Phenotype
F11 is in 3 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Factor XI deficiency
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Factor XI deficiency
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Factor XI deficiency
- OMIM
- 264900
- Clinvar variants
- Variants in F11
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for F11 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Set Mode of Inheritance, Added New Source
Louise Daugherty (Genomics England Curator)F11 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene F11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)F11 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)F11 was created by ellenmcdonagh