Genes in panel

Adult onset movement disorder

Gene: GLB1

Amber List (moderate evidence)

GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 16 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Rated Amber until further review/agreement with the Neurology Test Group. To be reviewed before panel sign off
Created: 29 Oct 2019, 10:51 a.m. | Last Modified: 29 Oct 2019, 10:51 a.m.
Panel Version: 0.128
Comment on publications: added publications to support gene-phenotype
Created: 29 Oct 2019, 10:47 a.m. | Last Modified: 29 Oct 2019, 10:47 a.m.
Panel Version: 0.127
New Green gene suggested by Dr Julia Rankin, Consultant in Clinical Genetics (Royal Devon and Exeter NHS Foundation Trust). Adults with GM1 gangliosidosis can present with dystonia and parkinsonism.
Sources: Expert Review
Created: 29 Oct 2019, 10:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM1-gangliosidosis, type III, 230650

History Filter Activity

29 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: glb1 has been classified as Amber List (Moderate Evidence).

29 Oct 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GLB1 were set to

29 Oct 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: GLB1 was added gene: GLB1 was added to Adult onset movement disorder. Sources: Expert Review Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type III, 230650 Review for gene: GLB1 was set to GREEN