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  3. F13B
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Bleeding and Platelet 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 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor XIIIB deficiency, MIM#613235

Publications

Created: 28 Feb 2020, 5:49 a.m.
Last Modified: 28 Feb 2020, 5:49 a.m.
Panel version: 0.10

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF proven
Created: 27 Feb 2020, 10:56 p.m. | Last Modified: 27 Feb 2020, 10:56 p.m.
Panel Version: 0.1473

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor XIIIB deficiency, 613235

Publications

Created: 27 Feb 2020, 10:56 p.m.
Last Modified: 27 Feb 2020, 10:56 p.m.
Panel version: Imported from Mendeliome panel version 0.1473

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Factor XIIIB deficiency, MIM#613235
OMIM
134580
Clinvar variants
Variants in F13B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f13b has been classified as Green List (High Evidence).

28 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: F13B were changed from to Factor XIIIB deficiency, MIM#613235

28 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: F13B were set to

28 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: F13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: F13B was added gene: F13B was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: F13B was set to Unknown