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Additional findings_Paediatric

Gene: F13B

Red List (low evidence)

F13B (coagulation factor XIII B chain)
EnsemblGeneIds (GRCh38): ENSG00000143278
EnsemblGeneIds (GRCh37): ENSG00000143278
OMIM: 134580, Gene2Phenotype
F13B is in 5 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature, only a milder bleeding phenotype post surgery in heterozygotes? Insufficient evidence for inclusion?
Sources: Expert list
Created: 6 Oct 2020, 3:38 a.m. | Last Modified: 6 Oct 2020, 3:44 a.m.
Panel Version: 0.106

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor XIIIB deficiency MIM# 613235

Publications

Details

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

History Filter Activity

6 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f13b has been classified as Red List (Low Evidence).

6 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f13b has been classified as Red List (Low Evidence).

6 Oct 2020, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: F13B was added gene: F13B was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: F13B were set to PMID: 31013569 Phenotypes for gene: F13B were set to Factor XIIIB deficiency MIM# 613235 Review for gene: F13B was set to RED