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Adult onset dystonia, chorea or related movement disorder v3.18 | GBA |
Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: GBA. Tag Q4_21_rating was removed from gene: GBA. |
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Adult onset dystonia, chorea or related movement disorder v3.13 | GBA | James Polke reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.174 | GBA | Eleanor Williams commented on gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.174 | GBA | Eleanor Williams Tag Q4_21_rating tag was added to gene: GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.170 | GBA | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.170 | GBA | Sarah Leigh Tag new-gene-name tag was added to gene: GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.170 | GBA | Sarah Leigh commented on gene: GBA: The new_gene_name tag has been added. The new name for GBA is GBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.166 | GBA | Sarah Leigh reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.166 | GBA | Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.123 | GBA | Arina Puzriakova changed review comment from: GBA included on this panel to capture association with Parkinson disease (PD). However, GBA is only a risk factor and variants do not cause highly penetrant forms of PD. 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 the potential carrier implications, inclusion of this gene will be flagged for review at the next GMS panel update.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.123 | GBA | Arina Puzriakova commented on gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.123 | GBA | Arina Puzriakova Tag Q4_21_MOI was removed from gene: GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.123 | GBA |
Arina Puzriakova Tag Q4_21_expert_review tag was added to gene: GBA. Tag Q4_21_MOI tag was added to gene: GBA. |
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Adult onset dystonia, chorea or related movement disorder v1.47 | GBA | Arina Puzriakova Phenotypes for gene: GBA were changed from {Parkinson disease, late-onset, susceptibility to}, 168600 to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.54 | GBA | Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.53 | GBA | James Polke reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.52 | GBA | Louise Daugherty Source NHS GMS was added to GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.51 | GBA | Louise Daugherty Source London North GLH was added to GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.2 | GBA |
Ellen McDonagh 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 |