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Severe Paediatric Disorders

Gene: F9

Green List (high evidence)

F9 (coagulation factor IX)
EnsemblGeneIds (GRCh38): ENSG00000101981
EnsemblGeneIds (GRCh37): ENSG00000101981
OMIM: 300746, Gene2Phenotype
F9 is in 4 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: F9; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hemophilia B, 306900 (3) | Thrombophilia, X-linked, due to factor IX defect, 300807 (3); Mode of inheritance: X-linked recessive | 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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombophilia, X-linked, due to factor IX defect, 300807
  • Hemophilia B, 306900
OMIM
300746
Clinvar variants
Variants in F9
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 F9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene F9 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to F9.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to F9. 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: F9 was added gene: F9 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: F9 was set to