Cardiomyopathy_Paediatric
Gene: GUSB
GUSB (glucuronidase beta)
EnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 14 panels
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
-
- Macrocephaly_Megalencephaly
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
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)