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Skeletal dysplasia

Gene: GLB1

Green List (high evidence)

GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 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

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 28 Jul 2016, 1:23 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • GM1-gangliosidosis, type II 230600
  • GM1-gangliosidosis, type I 230500
  • GM1-gangliosidosis, type III 230650
  • Mucopolysaccharidosis type IVB (Morquio) 253010
OMIM
611458
Clinvar variants
Variants in GLB1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes GM1-gangliosidosis, type I 230500; Mucopolysaccharidosis type IVB (Morquio) 253010 for gene: GLB1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GLB1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

28 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GLB1 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

GLB1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GLB1 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GLB1 was added to Unexplained skeletal dysplasiapanel. Sources: