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Mendeliome

Gene: F13A1

Green List (high evidence)

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, 9:57 a.m. | Last Modified: 2 Jun 2021, 9:57 a.m.
Panel Version: 0.7753

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

History Filter Activity

2 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f13a1 has been classified as Green List (High Evidence).

2 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: F13A1 were changed from to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187

2 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: F13A1 were set to

2 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: F13A1 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: F13A1 was added gene: F13A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: F13A1 was set to Unknown