Hereditary neuropathy or pain disorder
Gene: GSNThe 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
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
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: LiteratureCreated: 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
Tag Q3_21_rating was removed from gene: GSN.
Source Expert Review Green was added to GSN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: GSN.
Gene: gsn has been classified as Amber List (Moderate Evidence).
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
Publications for gene: GSN were set to PMID: 33499149; 26339870
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