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Incidentalome

Gene: GBA

Green List (high evidence)
GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 23 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 23588557; 32439597; 31010158: risk factor based on GWAS
Created: 4 Jun 2020, 3:09 a.m. | Last Modified: 4 Jun 2020, 3:09 a.m.
Panel Version: 0.48

Mode of inheritance
Other

Phenotypes
{Lewy body dementia, susceptibility to} (MIM# 127750)

Publications

Created: 4 Jun 2020, 3:09 a.m.
Last Modified: 4 Jun 2020, 3:09 a.m.
Panel version: Imported from Early-onset Dementia panel version 0.48

History Filter Activity

22 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Aug 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GBA were set to

22 Aug 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GBA were changed from to Parkinson's disease, MONDO:0005180, GBA-related

22 Aug 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GBA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Aug 2023, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag adult onset neurodegenerative tag was added to gene: GBA.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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