Amyloidosis

Gene: GSN

Green List (high evidence)

GSN (gelsolin)
EnsemblGeneIds (GRCh38): ENSG00000148180
EnsemblGeneIds (GRCh37): ENSG00000148180
OMIM: 137350, Gene2Phenotype
GSN is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, Finnish type

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyloidosis, Finnish type, MIM#105200
OMIM
137350
Clinvar variants
Variants in GSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gsn 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: GSN were changed from Amyloidosis, Finnish type to Amyloidosis, Finnish type, MIM#105200

27 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gsn has been classified as Green List (High Evidence).

27 Nov 2019, Gel status: 1

Set publications

Chirag Patel (Genetic Health Queensland)

Publications for gene GSN were changed from PubMed: 8395367; 2176164; 8684801; 6975851; 29167514 to PubMed: 8395367; 2176164; 8684801; 6975851; 29167514

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 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

17 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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