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Cardiomyopathy_Paediatric

Gene: GUSB

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis VII, 253220
  • Mucopolysaccharidosis, Type VII
  • syndromic HCM
  • MUCOPOLYSACCHARIDOSIS TYPE 7
  • Mucopolysaccharidosis Type VII
  • MPS VII, Sly disease (MPS IV, Morquio disease)
OMIM
611499
Clinvar variants
Variants in GUSB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GUSB was added gene: GUSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUSB were set to 27604308 Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220; Mucopolysaccharidosis, Type VII; syndromic HCM; MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis Type VII; MPS VII, Sly disease (MPS IV, Morquio disease)