Periodic fever syndromes
Gene: GSN
Comment on list classification: All reported mutations are in exon 4Created: 2 Feb 2017, 1:31 p.m.
Comment on mode of inheritance: AD but more severe phenotype if biallelic inheritanceCreated: 1 Feb 2017, 2:14 p.m.
Founder mutation most commonly seen.Created: 1 Feb 2017, 2:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amyloidosis, Finnish type 105120
Publications
Phenotypes for gene: GSN were changed from Amyloidosis; Amyloidosis, Finnish type, 105120 to Amyloidosis, Finnish type, OMIM:105120
22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for GSN were set to 2176164
Mode of inheritance for GSN was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene GSN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GSN was added to Periodic fever syndromes and amyloidosis panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
GSN was added to Periodic fever syndromes and amyloidosis panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen