GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GLB1

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

1 review

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM1-gangliosidosis, type I 230500; Mucopolysaccharidosis type IVB (Morquio) 253010

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

GM1-gangliosidosis, type I 230500
Mucopolysaccharidosis type IVB (Morquio) 253010

OMIM

611458

Clinvar variants

Variants in GLB1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: GLB1 was added gene: GLB1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I 230500; Mucopolysaccharidosis type IVB (Morquio) 253010

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: GLB1