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  2. Likely inborn error of metabolism
  3. GBA
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Likely inborn error of metabolism

Gene: GBA

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

1 review

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: 2.259
Created: 30 Jun 2022, 3:18 p.m.
Last Modified: 30 Jun 2022, 4:15 p.m.
Panel version: 2.259

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.

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GBA. Source London North GLH was added to GBA.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: GBA was added gene: GBA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA were set to 27604308 Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type II, 230900; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease; Gaucher disease (Sphingolipidoses)