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DDG2P

Gene: GBA

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 4:55 p.m.
Panel Version: 3.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 4:55 p.m.
Panel version: 3.12

Sarah Leigh (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Created: 30 Jun 2022, 3:18 p.m. | Last Modified: 30 Jun 2022, 4:15 p.m.
Panel Version: 2.76
Created: 30 Jun 2022, 3:18 p.m.
Last Modified: 30 Jun 2022, 4:15 p.m.
Panel version: 2.76

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 1; GAUCHER DISEASE; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE TYPE 3.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.
Panel Version: 1.131
Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.
Panel Version: 1.76
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE.
Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: both DD and IF (for all listed disorders).
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 1.131

History Filter Activity

30 Jun 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

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

12 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to GBA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: both DD

29 Jan 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to GBA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE 230800 for gene: GBA

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE TYPE 3 231000 for gene: GBA

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE PERINATAL LETHAL 608013 for gene: GBA

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE TYPE 2 230900 for gene: GBA

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE TYPE 3C 231005 for gene: GBA

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GBA was added gene: GBA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1 230800