Amyloidosis
Gene: GSN
The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported.
Multiple families with same founder variant, p.Asp187Asn, though other variants also reported.Created: 10 May 2022, 8:16 a.m. | Last Modified: 10 May 2022, 8:19 a.m.
Panel Version: 0.14064
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Amyloidosis, Finnish type, MIM# 105120
Publications
Gene: gsn has been classified as Green List (High Evidence).
Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type to Amyloidosis, Finnish type, MIM#105200
Gene: gsn has been classified as Green List (High Evidence).
Publications for gene GSN were changed from PubMed: 8395367; 2176164; 8684801; 6975851; 29167514 to PubMed: 8395367; 2176164; 8684801; 6975851; 29167514
Source KidGen_Amyloidosis v38.1.0 was removed from GSN. Source Expert list was added to GSN. Mode of inheritance for gene GSN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type Publications for gene GSN were changed from PubMed: 8395367; 2176164; 8684801; 6975851 to PubMed: 8395367; 2176164; 8684801; 6975851
gene: GSN was added gene: GSN was added to Amyloidosis_KidGen. Sources: KidGen_Amyloidosis v38.1.0 Mode of inheritance for gene: GSN was set to Unknown