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Prepair 1000+

Gene: F9

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Highly variable severity, difficult to predict phenotype.
Created: 9 Sep 2022, 5:28 a.m. | Last Modified: 9 Sep 2022, 5:28 a.m.
Panel Version: 0.180

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

Phenotypes
Haemophilia B (MIM#306900)

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Well established gene disease association with bleeding disorders. Time consuming and highly variable phenotype. Mild HA variants/risk alleles do not meet criteria for reporting

Consider for exclusion on phenotype grounds
Created: 15 Jul 2022, 12:48 a.m. | Last Modified: 15 Jul 2022, 12:48 a.m.
Panel Version: 0.49

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

Phenotypes
Hemophilia B (MIM#306900)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Hemophilia B, 306900 (3)
OMIM
300746
Clinvar variants
Variants in F9
Penetrance
None
Panels with this gene

History Filter Activity

9 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f9 has been classified as Red List (Low Evidence).

9 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f9 has been classified as Red List (Low Evidence).

9 Sep 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: F9.

15 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: F9.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: F9 was added gene: F9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F9 were set to Hemophilia B, 306900 (3)