Skeletal dysplasia
Gene: NEU1
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD) - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sialidosis, type I 256550; Sialidosis, type II 256550
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NEU1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 8:18 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sialidosis, type I 256550; Sialidosis, type II 256550
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Sialidosis, type II 256550; Sialidosis, type I 256550 for gene: NEU1
Source NHS GMS was added to NEU1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for NEU1 were set to Sialidosis, type I 256550; Sialidosis, type II 256550
Mode of inheritance for NEU1 was changed to BIALLELIC, autosomal or pseudoautosomal
NEU1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
NEU1 was created by sleigh
NEU1 was added to Unexplained skeletal dysplasiapanel. Sources: