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  3. GLB1
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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 18 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Created: 16 Mar 2021, 2:57 p.m.
Last Modified: 16 Mar 2021, 2:57 p.m.
Panel version: 1.28

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Mucopolysaccharidosis type IVB (Morquio) OMIM:253010
  • mucopolysaccharidosis type 4B MONDO:0009660
  • GM1-gangliosidosis, type III OMIM:230650
  • GM1 gangliosidosis type 3 MONDO:0009262
  • GM1-gangliosidosis, type I OMIM:230500
  • GM1 gangliosidosis type 1 MONDO:0009260
  • GM1-gangliosidosis, type II OMIM:230600
  • GM1 gangliosidosis type 2 MONDO:0009261
OMIM
611458
Clinvar variants
Variants in GLB1
Penetrance
None
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600 to Mucopolysaccharidosis type IVB (Morquio) OMIM:253010; mucopolysaccharidosis type 4B MONDO:0009660; GM1-gangliosidosis, type III OMIM:230650; GM1 gangliosidosis type 3 MONDO:0009262; GM1-gangliosidosis, type I OMIM:230500; GM1 gangliosidosis type 1 MONDO:0009260; GM1-gangliosidosis, type II OMIM:230600; GM1 gangliosidosis type 2 MONDO:0009261

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: GLB1 was added gene: GLB1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600