Inherited bleeding 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

3 reviews

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:38 a.m.

Louise Daugherty (Genomics England Curator)

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

Phenotypes
Haemophilia B

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Haemophilia B

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Haemophilia B
  • Thrombophilia, X-linked, due to factor IX defect 300807
Tags
gene-therapy-trial
OMIM
300746
Clinvar variants
Variants in F9
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

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

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

F9 was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen F9 was added to Inherited bleeding disorderspanel. Source: Other Model of inheritance for gene F9 was set to Unknown

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

F9 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

F9 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

F9 was created by ellenmcdonagh