Inherited bleeding disorders
Gene: F13BEnsemblGeneIds (GRCh38): ENSG00000143278
EnsemblGeneIds (GRCh37): ENSG00000143278
OMIM: 134580, Gene2Phenotype
F13B is in 3 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Updated from 'Monoallelic' to 'Both mono- and biallelic'. Although patients primarily present with biallelic variants, there is also evidence of monoallelic disease albeit in fewer frequency, likely due to the mild extent of symptoms resulting in many carriers going undetected until exposed to trauma.Created: 7 Jun 2022, 4:01 p.m. | Last Modified: 7 Jun 2022, 4:01 p.m.
Panel Version: 1.172
Louise Daugherty (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Factor XIII deficiency
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Factor XIII deficiency
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Other
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Factor XIIIB deficiency, OMIM:613235
- OMIM
- 134580
- Clinvar variants
- Variants in F13B
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: F13B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: F13B were changed from Factor XIII deficiency; VENOUS THROMBOSIS, SUSCEPTIBILITY TO to Factor XIIIB deficiency, OMIM:613235
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Ellen McDonagh (Genomics England Curator)F13B was added to Inherited bleeding disorderspanel. Source: Other
Set Mode of Inheritance, Added New Source
Louise Daugherty (Genomics England Curator)F13B was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene F13B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)F13B was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)F13B was created by ellenmcdonagh