Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary neuropathy NOT PMP22 copy number

Gene: GSN

Green List (high evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 1:08 p.m. | Last Modified: 14 Mar 2022, 1:08 p.m.
Panel Version: 1.88

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 28 Jul 2021, 1:26 p.m. | Last Modified: 28 Jul 2021, 1:26 p.m.
Panel Version: 1.34

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

Causes Amyloidosis, Finnish type with multisystem involvement. Peripheral and cranial neuropathy each reported in >70% of patients from >200 big cohort from Finland. PMID:26339870.
Sources: Literature
Created: 26 Jul 2021, 10:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Amyloidosis, Finnish type, OMIM:105120
  • cranial neuropathy
  • peripheral neuropathy
  • cutis laxa
  • cardiomyopathy, MONDO:0004994
  • arrhythmia
OMIM
137350
Clinvar variants
Variants in GSN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating was removed from gene: GSN.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to GSN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Jul 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: GSN.

28 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gsn has been classified as Amber List (Moderate Evidence).

28 Jul 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GSN were changed from Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia to Amyloidosis, Finnish type, OMIM:105120; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy, MONDO:0004994; arrhythmia

28 Jul 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GSN were set to PMID: 33499149; 26339870

26 Jul 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: GSN was added gene: GSN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GSN were set to PMID: 33499149; 26339870 Phenotypes for gene: GSN were set to Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia Penetrance for gene: GSN were set to Complete Review for gene: GSN was set to GREEN gene: GSN was marked as current diagnostic