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Newborns main panel

Gene: FGA

Green List (high evidence)
FGA (fibrinogen alpha chain)
EnsemblGeneIds (GRCh38): ENSG00000171560
EnsemblGeneIds (GRCh37): ENSG00000171560
OMIM: 134820, Gene2Phenotype
FGA is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
FGA curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • FGA related afibrinogenaemia
OMIM
134820
Clinvar variants
Variants in FGA
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FGA were changed from FGA related afibrinogenemia to FGA related afibrinogenaemia

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FGA were changed from FGA related afibrinogenemia, congenital to FGA related afibrinogenemia

16 Nov 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: FGA were changed from Afibrinogenemia, congenital to FGA related afibrinogenemia, congenital

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Afibrinogenemia, congenital for gene: FGA

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FGA. Added phenotypes Afibrinogenemia, congenital for gene: FGA Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FGA. Added phenotypes Afibrinogenemia, congenital for gene: FGA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FGA. Added phenotypes Afibrinogenemia, congenital for gene: FGA Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to FGA. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Afibrinogenemia, congenital for gene: FGA

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: FGA was added gene: FGA was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal