Adult onset dystonia, chorea or related movement disorder
Gene: GBAEnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels
7 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 4 May 2024, 4:48 p.m. | Last Modified: 4 May 2024, 4:48 p.m.
Panel Version: 3.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
James Polke (North Thames GLH)
I had previously thought this gene was on this panel for Gaucher's. Under the principle that a gene on a childhood onset panel is also appropriate to be on an adult onset panel. On that basis I think it should only be treated as a recessive gen and not to look for monoallelic risk variants associated with PD, as per R58.Created: 11 Oct 2023, 1:06 p.m. | Last Modified: 11 Oct 2023, 1:06 p.m.
Panel Version: 3.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher
Eleanor Williams (Genomics England Curator)
Added the Q4_21_rating tag to make it clear that it is the rating of this gene that is being assessed.Created: 6 Oct 2022, 1:46 p.m. | Last Modified: 6 Oct 2022, 1:46 p.m.
Panel Version: 1.174
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, 4:16 p.m.
Panel Version: 1.170
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required to decide whether or not this gene should be demoted to Amber.Created: 15 Mar 2022, 5:28 p.m. | Last Modified: 15 Mar 2022, 5:28 p.m.
Panel Version: 1.166
Arina Puzriakova (Genomics England Curator)
GBA included on this panel to capture association with Parkinson disease (PD). However, variants do not cause highly penetrant forms of PD and for these reasons, GBA was given an Amber rating on the 'Neurodegenerative disorders - adult onset' (R58) panel (https://panelapp.genomicsengland.co.uk/panels/474/gene/GBA/) Furthermore, issues regarding interpretation a GBA variant in the context of PD have been highlighted in the 100K (see Alison Callaway review on 100K PD panel - https://panelapp.genomicsengland.co.uk/panels/39/gene/GBA/) Given that GBA is only a PD risk factor and the potential carrier implications, inclusion of this gene will be flagged for review at the next GMS panel update.Created: 4 Oct 2021, 3:55 p.m. | Last Modified: 4 Oct 2021, 4:13 p.m.
Panel Version: 1.123
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
- Tags
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Adult onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- DDG2P
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Haematological malignancies for rare disease
- Likely inborn error of metabolism
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Gaucher disease
- Iron metabolism disorders - NOT common HFE mutations
- Arthrogryposis
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: GBA.
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene GBA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_21_expert_review was removed from gene: GBA. Tag Q4_21_rating was removed from gene: GBA.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_rating tag was added to gene: GBA.
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: GBA.
Added Tag
Sarah Leigh (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: GBA.
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_MOI was removed from gene: GBA.
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_expert_review tag was added to gene: GBA. Tag Q4_21_MOI tag was added to gene: GBA.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GBA were changed from {Parkinson disease, late-onset, susceptibility to}, 168600 to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GBA.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to GBA.
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 Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: GBA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GBA were set to 27648471; 27717005; 27632223; 29400127; 27779773 Phenotypes for gene: GBA were set to {Parkinson disease, late-onset, susceptibility to}, 168600