Dystonia - complex

Gene: GLB1

Green List (high evidence)

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association with dystonia a presenting feature in chronic/adult onset GM1-gangliosidosis.

PMID: 24156116 - Lysosomal storage disorder characterised by neurodegeneration and mild skeletal changes that is represented by a spectrum - severe, intermediate and mild.
Dystonia typically presents in late childhood to third decade in individuals with a milder form of gangliosidosis.

PMID: 35937492 - mild kyphoscoliosis and visual impairment. She developed generalised dystonia along with other neurological features.
Genetic testing identified compound het mutation (Thr82Met; His112Pro) - both present in gnomAD v4.1 at a rare enough FAF for AR condition.

PMID: 34514040 - Individual presenting with dystonia, cognitive impairment and other neurological features. Older brother presented with dystonia as well but had a milder phenotype. Both siblings also present with concordant MRI findings suggestive of gangliosidosis.
Both siblings had homozygous p.Phe107Leu mutation.

PMID: 1353343 - Multiple unrelated Japanese individuals with GM1 gangliosidosis. Affected individuals presented with gait and speech disturbances along with muscle hypotonia and dystonic posturing.
Ile51Thr missense variant was identified homozygous state in all but one patient.
One patient was compound heterozygous (Ile51Thr;Arg457Gln)
Created: 9 Dec 2024, 9:34 p.m. | Last Modified: 9 Dec 2024, 9:34 p.m.
Panel Version: 0.254

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM1 gangliosidosis type 3 MONDO:0009262

Publications

History Filter Activity

10 Dec 2024, 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).

10 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLB1 were changed from Infantile GM1 gangliosidosis to GM1 gangliosidosis type 3 MONDO:0009262

10 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GLB1 were set to

27 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 Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Infantile GM1 gangliosidosis