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Hereditary Neuropathy - complex

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

A rare complex form of HSP.
Classic HSP clinical features as well as polyneuropathy have been identified in at least 3 unrelated individuals.

PMID: 23332917
4 individuals from 2 families identified with axonal neuropathy with a homozygous mutation in GBA2.

PMID: 29524657
Individual from a non-consanguineous family with motor axonal peripehral neuropathy confirmed by nerve conduction studies
Created: 7 Jul 2023, 1:48 a.m. | Last Modified: 7 Jul 2023, 1:48 a.m.
Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 46 MIM#614409

Publications

Created: 7 Jul 2023, 1:48 a.m.
Last Modified: 7 Jul 2023, 1:48 a.m.
Panel version: 0.166

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, 614409
  • SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
OMIM
609471
Clinvar variants
Variants in GBA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2023, 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).

24 Jul 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GBA2 were set to

13 Jan 2020, 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 Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,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; SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy