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  2. Corneal Dystrophy
  3. GSN
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Corneal Dystrophy

Gene: GSN

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lattice corneal dystrophy is a key feature of this condition.
Created: 27 Jul 2020, 8:14 a.m. | Last Modified: 27 Jul 2020, 8:14 a.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, Finnish type, MIM# 105120

Publications

Created: 27 Jul 2020, 8:14 a.m.
Last Modified: 27 Jul 2020, 8:14 a.m.
Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyloidosis, Finnish type, MIM# 105120
OMIM
137350
Clinvar variants
Variants in GSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2020, 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 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, MIM# 105120

27 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GSN were set to

27 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GSN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

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 Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GSN was set to Unknown