Bleeding and Platelet Disorders
Gene: F13A1

F13A1 (coagulation factor XIII A chain)
EnsemblGeneIds (GRCh38): ENSG00000124491
EnsemblGeneIds (GRCh37): ENSG00000124491
OMIM: 134570, Gene2Phenotype
F13A1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Factor XIII deficiency is an autosomal recessive haematologic disorder characterized by increased bleeding and poor wound healing. Most cases result from mutation in the A subunit

At least 5 unrelated families reported.
Created: 2 Jun 2021, 9:56 a.m. | Last Modified: 2 Jun 2021, 9:56 a.m.

Panel Version: 0.240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor XIIIA deficiency, MIM# 613225; MONDO:0013187

Publications

Created: 2 Jun 2021, 9:56 a.m.
Last Modified: 2 Jun 2021, 9:56 a.m.
Panel version: 0.240

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Factor XIIIA deficiency, MIM# 613225
MONDO:0013187

OMIM

134570

Clinvar variants

Variants in F13A1

Penetrance

None

Publications

Panels with this gene