Amyloidosis
Gene: FGA
Semidominant inheritance of loss-of-function variantsCreated: 19 Apr 2025, 3:18 a.m. | Last Modified: 19 Apr 2025, 3:18 a.m.
Panel Version: 1.2470
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Congenital fibrinogen deficiency MONDO:0018060
Publications
Variants in this GENE are reported as part of current diagnostic practice
- 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
- 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
Publications for gene: FGA were set to PubMed: 8097946; 8639778; 12050338
Gene: fga has been classified as Green List (High Evidence).
Phenotypes for gene: FGA were changed from Amyloidosis, familial visceral to Amyloidosis, familial visceral, MIM#105200
Gene: fga has been classified as Green List (High Evidence).
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
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