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Amyloidosis

Gene: GSN

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, Finnish type

Publications

Created: 27 Nov 2019, 11 p.m.
Last Modified: 27 Nov 2019, 11 p.m.
Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
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