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GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
Gene: GLB1
GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #230500, #230600, #230650 & #253010), and these OMIM records were last accessed on 19 December 2025.Created: 19 Dec 2025, 10:26 p.m. | Last Modified: 19 Dec 2025, 10:26 p.m.
Panel Version: 1.2
GLB1 has been added to the panel for R288 GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:22 p.m. | Last Modified: 30 Jun 2023, 1:22 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- GM1-gangliosidosis, type I, OMIM:230500
- GM1-gangliosidosis, type II, OMIM:230600
- GM1-gangliosidosis, type III, OMIM:230650
- Mucopolysaccharidosis type IVB (Morquio), OMIM:253010
- GM1 gangliosidosis, MONDO:0018149
- mucopolysaccharidosis type 4B, MONDO:0009660
- OMIM
- 611458
- Clinvar variants
- Variants in GLB1
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Adult onset leukodystrophy
- Hyperammonaemia
- Fetal hydrops
- Likely inborn error of metabolism
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
19 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I, OMIM:230500; GM1-gangliosidosis, type II, OMIM:230600; GM1-gangliosidosis, type III, OMIM:230650; Mucopolysaccharidosis type IVB (Morquio), OMIM:253010; GM1 gangliosidosis, MONDO:0018149; mucopolysaccharidosis type 4B, MONDO:0009660
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: GLB1 was added gene: GLB1 was added to GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal