Corneal abnormalities

Gene: GSN

Green List (high evidence)

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

1 review

Chris Campbell (GEL)

Green List (high evidence)

Review by Manchester Centre for Genomic Medicine. Gene associated with lattice corneal dystrophy
Created: 3 Mar 2017, 10:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, Finnish type 105120;

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Amyloidosis, Finnish type 105120
OMIM
137350
Clinvar variants
Variants in GSN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

3 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 0

Added New Source

Chris Campbell (GEL)

GSN was added to Corneal abnormalitiespanel. Sources: Expert Review

3 Mar 2017, Gel status: 0

Created

Chris Campbell (GEL)

GSN was created by chriscampbell