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Factor XIII deficiency

Gene: F13B

Green List (high evidence)

F13B (coagulation factor XIII B chain)
EnsemblGeneIds (GRCh38): ENSG00000143278
EnsemblGeneIds (GRCh37): ENSG00000143278
OMIM: 134580, Gene2Phenotype
F13B is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

18 Dec 2025, Gel status: 3

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

29 Jun 2023, Gel status: 3

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