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Hereditary neuropathy NOT PMP22 copy number

Gene: GSN

Amber List (moderate evidence)

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

2 reviews

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 Amber
Phenotypes
  • Amyloidosis, Finnish type, OMIM:105120
  • cranial neuropathy
  • peripheral neuropathy
  • cutis laxa
  • cardiomyopathy, MONDO:0004994
  • arrhythmia
Tags
Q3_21_rating
OMIM
137350
Clinvar variants
Variants in GSN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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