Lysosomal storage disorder

Gene: GUSB

Green List (high evidence)

GUSB (glucuronidase beta)
EnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 15 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis VII 253220

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII OMIM:253220; mucopolysaccharidosis type 7 MONDO:0009662

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: GUSB was added gene: GUSB 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: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII 253220