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  3. F9
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Bleeding and Platelet Disorders

Gene: F9

Green List (high evidence)
F9 (coagulation factor IX)
EnsemblGeneIds (GRCh38): ENSG00000101981
EnsemblGeneIds (GRCh37): ENSG00000101981
OMIM: 300746, Gene2Phenotype
F9 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association between loss of function and haemophilia.

Factor IX Padua has increased activity and is associated with thrombophilia.
Created: 2 Jun 2021, 8:42 p.m. | Last Modified: 2 Jun 2021, 8:42 p.m.
Panel Version: 0.252

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807

Publications

Created: 2 Jun 2021, 8:42 p.m.
Last Modified: 2 Jun 2021, 8:42 p.m.
Panel version: 0.252

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemophilia B, MIM# 306900
  • MONDO:0010604
  • Thrombophilia, X-linked, due to factor IX defect, MIM# 300807
  • MONDO:0010432
OMIM
300746
Clinvar variants
Variants in F9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; MONDO:0010432

2 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432

2 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f9 has been classified as Green List (High Evidence).

2 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: F9 were changed from to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807

2 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: F9 were set to

2 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: F9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: F9 was added gene: F9 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: F9 was set to Unknown