Corneal dystrophies

Gene: GSN

Green List (high evidence)

GSN (gelsolin)
EnsemblGeneIds (GRCh38): ENSG00000148180
EnsemblGeneIds (GRCh37): ENSG00000148180
OMIM: 137350, Gene2Phenotype
GSN is in 5 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Syndromic, but cases have occurred where the corneal dystrophy was the presenting symptom - information supplied by Alice Davidson UCL.
Created: 1 Apr 2019, 2:30 p.m.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Amyloidosis, Finnish type 105120
OMIM
137350
Clinvar variants
Variants in GSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GSN was added gene: GSN was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GSN were set to 2153578; 1652889; 8388189 Phenotypes for gene: GSN were set to Amyloidosis, Finnish type 105120