Lysosomal Storage Disorder

Gene: GLB1

Green List (high evidence)

GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 19 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 14 Apr 2021, 4:51 a.m. | Last Modified: 14 Apr 2021, 4:51 a.m.
Panel Version: 0.189

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600; GM1-gangliosidosis, type III, MIM# 230650; Mucopolysaccharidosis type IVB (Morquio), MIM# 253010

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM1-gangliosidosis, type I, MIM# 230500
  • GM1-gangliosidosis, type II, MIM# 230600
  • GM1-gangliosidosis, type III, MIM# 230650
  • Mucopolysaccharidosis type IVB (Morquio), MIM# 253010
OMIM
611458
Clinvar variants
Variants in GLB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glb1 has been classified as Green List (High Evidence).

14 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600; GM1-gangliosidosis, type III, MIM# 230650; Mucopolysaccharidosis type IVB (Morquio), MIM# 253010

14 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GLB1 were set to

14 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLB1 was added gene: GLB1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GLB1 was set to Unknown