Activity
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14 actions
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| Dystonia, chorea or related movement disorder, adult onset v1.107 | PDE2A | Arina Puzriakova Phenotypes for gene: PDE2A were changed from to Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v1.106 | PDE2A | Arina Puzriakova Mode of inheritance for gene: PDE2A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.130 | PDE2A | Louise Daugherty changed review comment from: PMID: 29392776 Only identified in one family with infantile onset chorea predominant movement disorder, not enough evidence to rate Green unless additional evidence from labs.; to: PMID: 29392776 Only identified in one family with infantile onset chorea predominant movement disorder, not enough evidence to rate Green unless additional evidence from labs. it is currently not associated with any phenotypes in OMIM or G2P | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.130 | PDE2A | Louise Daugherty commented on gene: PDE2A: PMID: 29392776 Only identified in one family with infantile onset chorea predominant movement disorder, not enough evidence to rate Green unless additional evidence from labs. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.130 | PDE2A | Louise Daugherty Classified gene: PDE2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.130 | PDE2A | Louise Daugherty Added comment: Comment on list classification: downgraded to Amber until evidence from GLH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.130 | PDE2A | Louise Daugherty Gene: pde2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.125 | PDE2A | Louise Daugherty changed review comment from: 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. ; to: Review and rating submitted by James Polke, unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.86 | PDE2A | Louise Daugherty Classified gene: PDE2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.86 | PDE2A | Louise Daugherty Gene: pde2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.54 | PDE2A | Louise Daugherty reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.53 | PDE2A | James Polke reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.52 | PDE2A | Louise Daugherty Source NHS GMS was added to PDE2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.51 | PDE2A |
Louise Daugherty gene: PDE2A was added gene: PDE2A was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: PDE2A was set to |
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