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Severe Paediatric Disorders

Gene: F11

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: F11; Recommended initial gene rating: Green List (high evidence); Phenotypes: Factor XI deficiency, autosomal dominant, 612416 (3) | Factor XI deficiency, autosomal recessive, 612416 (3); Mode of inheritance: ND | ND
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Factor XI deficiency, autosomal recessive, 612416
  • Factor XI deficiency, autosomal dominant, 612416
OMIM
264900
Clinvar variants
Variants in F11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene F11 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene F11 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Factor XI deficiency, autosomal recessive, 612416; Factor XI deficiency, autosomal dominant, 612416 for gene: F11

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Factor XI deficiency, autosomal recessive, 612416; Factor XI deficiency, autosomal dominant, 612416 for gene: F11

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Factor XI deficiency, autosomal recessive, 612416; Factor XI deficiency, autosomal dominant, 612416 for gene: F11

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Factor XI deficiency, autosomal dominant, 612416; Factor XI deficiency, autosomal recessive, 612416 for gene: F11

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to F11.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to F11. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: F11 was added gene: F11 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: F11 was set to