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BabyScreen+ newborn screening

Gene: GUSB

Green List (high evidence)
GUSB (glucuronidase beta)
EnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 14 panels

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

Beta-glucuronidase deficiency (synonym: Sly syndrome or MPS VII)

urine MPS analysis (increased dermatan sulphate, heparan sulphate, and chondroitin sulphate) and white blood cell lysosomal enzymes can confirm the diagnosis

Treatments include: Vestronidase alpha enzyme replacement (improves psychomotor/cognitive development/IQ; improves systemic manifestations) and bone marrow transplantation/Haematopoietic Stem Cell Transplantation (HSCT; prevents, halts or slows clinical deterioration, improves systemic manifestations)
Created: 4 Dec 2022, 6 a.m. | Last Modified: 4 Dec 2022, 6 a.m.
Panel Version: 0.1154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
facial dysmorphisms; skeletal deformities; cardiac valve involvement; ocular involvement; motor delay; developmental delay; ID

Publications

Created: 4 Dec 2022, 6 a.m.
Last Modified: 4 Dec 2022, 6 a.m.
Panel version: 0.1154

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.

Treatment: Vestronidase alfa enzyme replacement, Bone marrow transplantation

Non-genetic confirmatory testing: leukocyte beta-glucuronidase enzyme activity
Created: 28 Nov 2022, 9:54 a.m. | Last Modified: 28 Nov 2022, 9:54 a.m.
Panel Version: 0.1117

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis VII, MIM# 253220

Created: 28 Nov 2022, 9:54 a.m.
Last Modified: 28 Nov 2022, 9:54 a.m.
Panel version: 0.1117

History Filter Activity

14 Dec 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: GUSB.

28 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Nov 2022, Gel status: 3

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: GUSB. Tag treatable tag was added to gene: GUSB. Tag metabolic tag was added to gene: GUSB.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GUSB was added gene: GUSB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, MIM#253220