Leukodystrophy - adult onset
Gene: GLB1
GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 19 panels
1 review
Kaitlyn Dianna Weldon (University of Melbourne)
a well-established phenotype of GLB1 related diseases is white matter changes
GM1 gangliosidosis type 3 is related to late childhood/adult onsetCreated: 13 Sep 2023, 1:55 a.m. | Last Modified: 13 Sep 2023, 1:55 a.m.
Panel Version: 0.109
Phenotypes
GM1 gangliosidosis type 3 MONDO:0009262
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- GM1-gangliosidosis, type III, MIM#230650
- white matter abnormality
- OMIM
- 611458
- Clinvar variants
- Variants in GLB1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Macrocephaly_Megalencephaly
- Regression
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
History Filter Activity
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GLB1 was added gene: GLB1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type III, MIM#230650; white matter abnormality