This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 611458
- Clinvar variants
- Variants in GLB1
- Penetrance
- None
- 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
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Early onset or syndromic epilepsy
- 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
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)GLB1 was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)GLB1 was created by Sarah Leigh