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  2. Newborns additional phenotypes panel 1
  3. F11
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Newborns additional phenotypes panel 1

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: 7 Jul 2023, 9:21 a.m. | Last Modified: 7 Jul 2023, 9:21 a.m.
Panel Version: 0.31
F11 curation results (clinicalgenome.org)
Created: 7 Jul 2023, 9:21 a.m. | Last Modified: 7 Jul 2023, 9:21 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:21 a.m.
Last Modified: 7 Jul 2023, 9:21 a.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Factor XI deficiency, autosomal dominant
OMIM
264900
Clinvar variants
Variants in F11
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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 dominant

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)

7 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: F11 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Jul 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: F11 was added gene: F11 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F11 were set to Factor XI deficiency Mode of pathogenicity for gene: F11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments