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This Panel is marked as Internal

Newborns main panel
Gene: GBA

GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Variants not reliably detected by current pipeline. Special caller required.
Created: 4 Nov 2024, 3:09 p.m. | Last Modified: 4 Nov 2024, 3:10 p.m.

Panel Version: 0.469

Created: 4 Nov 2024, 3:09 p.m.
Last Modified: 4 Nov 2024, 3:10 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.

Panel Version: 0.250

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

https://search.clinicalgenome.org/kb/genes/HGNC:4177
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

highly homologous pseudogene. NB traditional aa numbering system was used in the past which did not include the first 39 aas. HGNC approved gene symbol is GBA1 (
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.133

Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.250

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Gaucher disease

Tags

new-gene-name

OMIM

Clinvar variants

Variants in GBA

Penetrance

None

Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag new-gene-name tag was added to gene: GBA.

25 Oct 2023, Gel status: 2

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: GBA. Tag GBA1 was removed from gene: GBA.

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GBA. Added phenotypes Gaucher disease for gene: GBA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Gaucher disease for gene: GBA

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Gaucher disease for gene: GBA

10 May 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GBA1 tag was added to gene: GBA.

10 May 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: GBA.

9 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: GBA were changed from Gaucher disease, type I; Gaucher disease to Gaucher disease

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GBA. Added phenotypes Gaucher disease for gene: GBA Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Gaucher disease, type I for gene: GBA

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GBA was added gene: GBA was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal