Hypertrophic cardiomyopathy - teen and adult

Gene: GLB1

Red List (low evidence)

GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

GM1-gangliosidosis, type I, II, III (230500, 230600, 230650)
Created: 25 Mar 2019, 4:30 p.m.
OMIM: only listed with HCM/DCM in GM1-gangliosidosis, type I - infantile form (not type II or III or Morquio disease) https://omim.org/entry/230500. But quite a few of the pathogenic classed variants on HGMD are associated with the infantile form. But cardiomyopathy only seen in a subset of patients not a key 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 GLB1. Mode of inheritance for gene GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GLB1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list