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  3. GBA2
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Hereditary Spastic Paraplegia - adult onset

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.

Adult onset reported, PMID 29524657.
Sources: Expert list
Created: 18 Apr 2020, 7:27 a.m. | Last Modified: 16 Mar 2021, 5:12 a.m.
Panel Version: 0.79

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 18 Apr 2020, 7:27 a.m.
Last Modified: 16 Mar 2021, 5:12 a.m.
Panel version: 0.79

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, 614409
  • MONDO:0013737
OMIM
609471
Clinvar variants
Variants in GBA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, 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 to Spastic paraplegia 46, autosomal recessive, 614409; MONDO:0013737

16 Mar 2021, 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).

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GBA2 were set to 23332916; 23332917

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GBA2 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GBA2 was added gene: GBA2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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