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Regression

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

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

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

History Filter Activity

29 May 2022, 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).

29 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737

29 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GBA2 were set to

29 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GBA2 was added gene: GBA2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GBA2 was set to Unknown