Adult onset dystonia, chorea or related movement disorder
Gene: GBA
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
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
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
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
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.
Tag Q4_21_expert_review was removed from gene: GBA. Tag Q4_21_rating was removed from gene: GBA.
Tag Q4_21_rating tag was added to gene: GBA.
Tag new-gene-name tag was added to gene: GBA.
Tag to_be_confirmed_NHSE tag was added to gene: GBA.
Tag Q4_21_MOI was removed from gene: GBA.
Tag Q4_21_expert_review tag was added to gene: GBA. Tag Q4_21_MOI tag was added to gene: GBA.
Phenotypes for gene: GBA were changed from {Parkinson disease, late-onset, susceptibility to}, 168600 to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Source NHS GMS was added to GBA.
Source London North GLH was added to GBA.
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