Bleeding and Platelet Disorders

Gene: FGA

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bleeding due to afibrinogenaemia 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 haemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen.

Monoallelic variants in this gene are associated with amyloidosis.

- Premature termination variants (PTVs) located downstream of ~p.500 are associated with autosomal dominant familial visceral amyloidosis (MIM#105200). PTVs located upstream are associated with autosomal recessive congenital afibrinogenemia (MIM#202400). (PMIDs: 31064749, 17295221, 19073821)
- Biallelic loss of function result in congenital afibrinogenemia (MIM#202400) (PMID:17295221). The disease mechanism of autosomal dominant familial visceral amyloidosis (MIM#105200) is unclear.
- PMID:11739173 concluded that null mutants of congenital afibrinogenemia (AR) patients escaped NMD.
Created: 18 May 2021, 1:06 a.m. | Last Modified: 18 May 2021, 1:06 a.m.
Panel Version: 0.220

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Afibrinogenemia, congenital (MIM#202400)

Publications

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

- Premature termination variants (PTVs) located downstream of ~p.500 are associated with autosomal dominant familial visceral amyloidosis (MIM#105200). PTVs located upstream are associated with autosomal recessive congenital afibrinogenemia (MIM#202400). (PMIDs: 31064749, 17295221, 19073821)
- Biallelic loss of function result in congenital afibrinogenemia (MIM#202400) (PMID:17295221). The disease mechanism of autosomal dominant familial visceral amyloidosis (MIM#105200) is unclear.
- PMID:11739173 concluded that null mutants of congenital afibrinogenemia (AR) patients escaped NMD.
Created: 17 May 2021, 10:02 a.m. | Last Modified: 17 May 2021, 10:02 a.m.
Panel Version: 0.7637

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Afibrinogenemia, congenital (MIM#202400), AR; Amyloidosis, familial visceral (MIM#105200), AD

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Afibrinogenemia, congenital (MIM#202400)
OMIM
134820
Clinvar variants
Variants in FGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGA were changed from to Afibrinogenemia, congenital (MIM#202400)

18 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FGA were set to

18 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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