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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 26 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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
Tags
new-gene-name
OMIM
606463
Clinvar variants
Variants in GBA
Penetrance
None
Publications
Panels with this gene