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Newborns main panel

Gene: F11

Amber List (moderate evidence)
F11 (coagulation factor XI)
EnsemblGeneIds (GRCh38): ENSG00000088926
EnsemblGeneIds (GRCh37): ENSG00000088926
OMIM: 264900, Gene2Phenotype
F11 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) for autosomal recessive MOI and dominant-negative (DN) for autosomal dominant MOI.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:21 a.m.
Panel Version: 0.146
F11 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
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 7 Jul 2023, 9:21 a.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Factor XI deficiency, autosomal recessive
OMIM
264900
Clinvar variants
Variants in F11
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: F11 were changed from Factor XI deficiency to Factor XI deficiency, autosomal recessive

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to F11. Added phenotypes Factor XI deficiency for gene: F11 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to F11. Mode of inheritance for gene F11 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Factor XI deficiency for gene: F11 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to F11. Added phenotypes Factor XI deficiency for gene: F11 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to F11. Added phenotypes Factor XI deficiency for gene: F11 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to F11. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: F11 was added gene: F11 was added to Newborns main panel. Sources: Expert Review Red 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 Phenotypes for gene: F11 were set to Factor XI deficiency