Skeletal dysplasia
Gene: GUSB

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Clinical features are highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most individuals with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of intellectual impairment. Well established gene-disease association.
Created: 9 Apr 2021, 10:58 p.m. | Last Modified: 9 Apr 2021, 10:58 p.m.

Panel Version: 0.7100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662

Created: 9 Apr 2021, 10:58 p.m.
Last Modified: 9 Apr 2021, 10:58 p.m.
Panel version: Imported from Mendeliome panel version 0.7100

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
UKGTN
Radboud University Medical Center, Nijmegen
Expert Review Green
NHS GMS
Expert list
Emory Genetics Laboratory
Victorian Clinical Genetics Services

Phenotypes

Mucopolysaccharidosis VII 253220

OMIM

611499

Clinvar variants

Variants in GUSB

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, 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 Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII 253220

Skeletal dysplasia Gene: GUSB