Inherited bleeding disorders

Gene: F13B

Green List (high evidence)

F13B (coagulation factor XIII B chain)
EnsemblGeneIds (GRCh38): ENSG00000143278
EnsemblGeneIds (GRCh37): ENSG00000143278
OMIM: 134580, Gene2Phenotype
F13B is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Factor XIII deficiency

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Factor XIII deficiency
  • VENOUS THROMBOSIS, SUSCEPTIBILITY TO
OMIM
134580
Clinvar variants
Variants in F13B
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

Added New Source

Ellen McDonagh (Genomics England Curator)

F13B was added to Inherited bleeding disorderspanel. Source: Other

19 Dec 2016, Gel status: 4

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

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

F13B was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

F13B was created by ellenmcdonagh