Regression
Gene: GBA2

GBA2 (glucosylceramidase beta 2)
EnsemblGeneIds (GRCh38): ENSG00000070610
EnsemblGeneIds (GRCh37): ENSG00000070610
OMIM: 609471, Gene2Phenotype
GBA2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.
Created: 29 May 2022, 6:08 a.m. | Last Modified: 29 May 2022, 6:08 a.m.

Panel Version: 0.476

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737

Publications

Created: 29 May 2022, 6:08 a.m.
Last Modified: 29 May 2022, 6:08 a.m.
Panel version: 0.476

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Spastic paraplegia 46, autosomal recessive, MIM# 614409
MONDO:0013737

OMIM

609471

Clinvar variants

Variants in GBA2

Penetrance

None

Publications

Panels with this gene