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Severe Paediatric Disorders

Gene: GBA

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Created: 30 Jun 2022, 3:19 p.m. | Last Modified: 30 Jun 2022, 4:16 p.m.
Panel Version: 1.127

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GBA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Gaucher disease, perinatal lethal, 608013 (3) | Gaucher disease, type I, 230800 (3) | Gaucher disease, type II, 230900 (3) | Gaucher disease, type III, 231000 (3) | Gaucher disease, type IIIC, 231005 (3) ; Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

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.

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GBA was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GBA were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Gaucher disease, type I, 230800; Gaucher disease, type II, 230900; Gaucher disease, type IIIC, 231005; Gaucher disease, type III, 231000; Gaucher disease, perinatal lethal, 608013 for gene: GBA

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GBA.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GBA was added gene: GBA was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GBA was set to