Hypertrophic cardiomyopathy - teen and adult

Gene: GUSB

Red List (low evidence)

GUSB (glucuronidase beta)
EnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 15 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

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)

I don't know

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