Inherited bleeding disorders
Gene: F9EnsemblGeneIds (GRCh38): ENSG00000101981
EnsemblGeneIds (GRCh37): ENSG00000101981
OMIM: 300746, Gene2Phenotype
F9 is in 3 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/412Created: 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)
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
- OMIM
- 300746
- Clinvar variants
- Variants in F9
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
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
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
Added New Source
Louise Daugherty (Genomics England Curator)F9 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)F9 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)F9 was created by ellenmcdonagh