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BabyScreen+ newborn screening

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Clinical presentation is often in infancy with umbilical stump bleeding. At risk of major bleeding episodes.

Treatment: Fresh-frozen plasma (FFP), cryoprecipitate, or factor (F)XIII concentrates

Confirmatory testing: F13 levels
Created: 4 Oct 2023, 2:05 a.m. | Last Modified: 4 Oct 2023, 2:05 a.m.
Panel Version: 1.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor XIIIB deficiency, MIM#613235

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • BeginNGS
Phenotypes
  • Factor XIIIB deficiency, MIM#613235
Tags
treatable haematological
OMIM
134580
Clinvar variants
Variants in F13B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, 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).

4 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Oct 2023, 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).

4 Oct 2023, Gel status: 1

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: F13B. Tag haematological tag was added to gene: F13B.

18 Sep 2022, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert list was added to F13B. Source Expert Review Red was added to F13B. Added phenotypes Factor XIIIB deficiency MIM# 613235 for gene: F13B Publications for gene F13B were updated from to PMID: 31013569 Rating Changed from Green List (high evidence) to Red List (low evidence)

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: F13B was added gene: F13B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM# 613235