Adult onset dystonia, chorea or related movement disorder
Gene: GLB1
GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on list classification: Rated Amber until further review/agreement with the Neurology Test Group. To be reviewed before panel sign offCreated: 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-phenotypeCreated: 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 ReviewCreated: 29 Oct 2019, 10:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type III, 230650
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- GM1-gangliosidosis, type III, 230650
- OMIM
- 611458
- Clinvar variants
- Variants in GLB1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Skeletal dysplasia
- Fetal hydrops
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
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