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Gene: GBA2

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

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.

HGNC approved symbol/name: GBA2
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 18 Dec 2024, 3:28 a.m. | Last Modified: 18 Dec 2024, 3:28 a.m.
Panel Version: 1.836

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 46, autosomal recessive, MIM# 614409

Publications

Created: 18 Dec 2024, 3:28 a.m.
Last Modified: 18 Dec 2024, 3:28 a.m.
Panel version: 1.836

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, MIM# 614409
OMIM
609471
Clinvar variants
Variants in GBA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gba2 has been classified as Green List (High Evidence).

27 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive, 614409 (3) to Spastic paraplegia 46, autosomal recessive, MIM# 614409

27 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GBA2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GBA2 was added gene: GBA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409 (3)