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BabyScreen+ newborn screening

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Typically presents in newborn period with bleeding, though can present later.

Treatment: fibrinogen concentrate
Created: 22 Nov 2022, 11:46 p.m. | Last Modified: 22 Nov 2022, 11:46 p.m.
Panel Version: 0.1026

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Afibrinogenemia, congenital (MIM#202400)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Afibrinogenemia, congenital (MIM#202400)
Tags
treatable haematological
OMIM
134820
Clinvar variants
Variants in FGA
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: FGA. Tag haematological tag was added to gene: FGA.

22 Nov 2022, 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).

22 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Sep 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGA were set to Afibrinogenaemia