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Prepair 1000+

Gene: FGG

Green List (high evidence)

FGG (fibrinogen gamma chain)
EnsemblGeneIds (GRCh38): ENSG00000171557
EnsemblGeneIds (GRCh37): ENSG00000171557
OMIM: 134850, Gene2Phenotype
FGG is in 7 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 onset 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 3 other conditions on the same spectrum but they sound less severe and possibly not reportable in a carrier screening context
Dysfibrinogenemia, congenital MIM#616004, Hypodysfibrinogenemia MIM#616004 and Hypofibrinogenemia, congenital MIM#202400
from OMIM:
Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia) of the circulating fibrinogen, or both (hypodysfibrinogenemia). Patients with dysfibrinogenemia are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both (summary by de Moerloose and Neerman-Arbez, 2009). Reports (e.g., Haverkate and Samama, 1995) on approximately 350 families with dysfibrinogenemia revealed that approximately half of cases are clinically silent, a quarter show a tendency toward bleeding, and another quarter show a predisposition for thrombosis with or without bleeding (summary by Lefebvre et al., 2004).

Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009).
Created: 20 Sep 2024, 6:13 a.m. | Last Modified: 20 Sep 2024, 6:13 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
134850
Clinvar variants
Variants in FGG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

4 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: FGG were set to

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