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Prepair 1000+

Gene: FGA

Green List (high evidence)

FGA (fibrinogen alpha chain)
EnsemblGeneIds (GRCh38): ENSG00000171560
EnsemblGeneIds (GRCh37): ENSG00000171560
OMIM: 134820, Gene2Phenotype
FGA is in 9 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

From OMIM:
Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009).

Green on the Babyscreen+ panel for Afibrinogenemia, congenital (MIM#202400)
Typically presents in newborn period with bleeding, though can present later.

Treatment: fibrinogen concentrate

This gene also causes an autosomal dominant condition Amyloidosis, familial visceral (MIM#105200), AD
The correlation is its caused by missense variants occurring in the the 3' end of exon 5 (after 500aa), or PTCs all end at 568 or 567 (http://www.amyloidosismutations.com/mut-afib.php, PMID:31064749, PMID:17295221, PMID:19073821)
Created: 20 Sep 2024, 6:07 a.m. | Last Modified: 20 Sep 2024, 6:07 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Afibrinogenemia, congenital (MIM#202400)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Afibrinogenemia, congenital, 202400 (3)
OMIM
134820
Clinvar variants
Variants in FGA
Penetrance
None
Panels with this gene

History Filter Activity

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGA was added gene: FGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGA were set to Afibrinogenemia, congenital, 202400 (3)