Skeletal dysplasia
Gene: GLB1
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), Lysosomal storage diseases. At least 3 cases. Also mutated in GM1-gangliosidosis, type II 230600;GM1-gangliosidosis, type III 230650;with skeletal involvement (dysostosis multiplex gp of SD); Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type I 230500; Mucopolysaccharidosis type IVB (Morquio) 253010
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: GLB1; 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: 28 Jul 2016, 1:23 p.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600; GM1-gangliosidosis, type III 230650; Mucopolysaccharidosis type IVB (Morquio) 253010
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes GM1-gangliosidosis, type I 230500; Mucopolysaccharidosis type IVB (Morquio) 253010 for gene: GLB1
Source NHS GMS was added to GLB1. 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 GLB1 were set to GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600; GM1-gangliosidosis, type III 230650; Mucopolysaccharidosis type IVB (Morquio) 253010
Mode of inheritance for GLB1 was changed to BIALLELIC, autosomal or pseudoautosomal
GLB1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GLB1 was created by sleigh
GLB1 was added to Unexplained skeletal dysplasiapanel. Sources: