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Amyloidosis

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)

- 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.
Created: 18 May 2021, 1:25 a.m. | Last Modified: 18 May 2021, 1:25 a.m.
Panel Version: 0.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, familial visceral (MIM#105200

Publications

Created: 18 May 2021, 1:25 a.m.
Last Modified: 18 May 2021, 1:25 a.m.
Panel version: 0.20

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, familial visceral

Publications

Created: 27 Nov 2019, 10:50 p.m.
Last Modified: 27 Nov 2019, 10:50 p.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyloidosis, familial visceral, MIM#105200
OMIM
134820
Clinvar variants
Variants in FGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FGA were set to PubMed: 8097946; 8639778; 12050338

27 Nov 2019, 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).

27 Nov 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGA were changed from Amyloidosis, familial visceral to Amyloidosis, familial visceral, MIM#105200

27 Nov 2019, 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).

27 Nov 2019, Gel status: 1

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source KidGen_Amyloidosis v38.1.0 was removed from FGA. Source Expert list was added to FGA. Mode of inheritance for gene FGA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGA were changed from to Amyloidosis, familial visceral Publications for gene FGA were changed from PubMed: 8097946; 8639778; 12050338 to PubMed: 8097946; 8639778; 12050338

17 Nov 2019, Gel status: 1

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 Amyloidosis_KidGen. Sources: KidGen_Amyloidosis v38.1.0 Mode of inheritance for gene: FGA was set to Unknown