Factor XIII deficiency
Gene: F13BEnsemblGeneIds (GRCh38): ENSG00000143278
EnsemblGeneIds (GRCh37): ENSG00000143278
OMIM: 134580, Gene2Phenotype
F13B is in 3 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #613235) and the OMIM record was last accessed on 18 December 2025.Created: 18 Dec 2025, 10:45 a.m. | Last Modified: 18 Dec 2025, 10:45 a.m.
Panel Version: 1.3
F13B has been added to the panel for R122 Factor XIII deficiency with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:07 p.m. | Last Modified: 30 Jun 2023, 1:07 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Factor XIIIB deficiency, OMIM:613235
- factor XIII, b subunit, deficiency of, MONDO:0013190
- OMIM
- 134580
- Clinvar variants
- Variants in F13B
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: F13B were changed from to Factor XIIIB deficiency, OMIM:613235; factor XIII, b subunit, deficiency of, MONDO:0013190
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: F13B was added gene: F13B was added to Factor XIII deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal