Inherited bleeding disorders
Gene: F13A1EnsemblGeneIds (GRCh38): ENSG00000124491
EnsemblGeneIds (GRCh37): ENSG00000124491
OMIM: 134570, Gene2Phenotype
F13A1 is in 4 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Factor XIII deficiency
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Factor XIIIA deficiency, OMIM:613225
- OMIM
- 134570
- Clinvar variants
- Variants in F13A1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: F13A1 were changed from Factor XIII deficiency to Factor XIIIA deficiency, OMIM:613225
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for F13A1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Set Mode of Inheritance, Added New Source
Louise Daugherty (Genomics England Curator)F13A1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene F13A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)F13A1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)F13A1 was created by ellenmcdonagh