Early-onset Parkinson disease

Gene: GLB1

Green List (high evidence)

GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 19 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Parkinsonism reported in Type 3.
Created: 20 Jul 2022, 12:10 a.m. | Last Modified: 20 Jul 2022, 12:12 a.m.
Panel Version: 0.191

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM1-gangliosidosis, type III , MIM#230650

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 3:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM1 Gangliosidosis; Parkinsonism; OMIM 230650

Publications

History Filter Activity

20 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glb1 has been classified as Green List (High Evidence).

20 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLB1 were changed from GM1 Gangliosidosis; Parkinsonism; OMIM 230650 to GM1-gangliosidosis, type III , MIM#230650; Parkinsonism

20 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glb1 has been classified as Green List (High Evidence).

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: GLB1 was added gene: GLB1 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to PMID: 34514040 Phenotypes for gene: GLB1 were set to GM1 Gangliosidosis; Parkinsonism; OMIM 230650 Review for gene: GLB1 was set to GREEN