Hypertrophic cardiomyopathy
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
2 reviews
Rebecca Whittington (South West GLH)
Mucopolysaccharidosis VII (253220)Created: 25 Mar 2019, 4:30 p.m.
Patients with cardiac arrest and HCM described on OMIM, but not a key feature or presenting feature.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 611499
- Clinvar variants
- Variants in GUSB
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharideosis, Gaucher, Fabry
- Monogenic hearing loss
- Skeletal dysplasia
- Undiagnosed metabolic disorders
- Fetal hydrops
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hydrocephalus
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to GUSB. Mode of inheritance for gene GUSB was changed from to BIALLELIC, autosomal or pseudoautosomal
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GUSB was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list