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Adult onset dystonia, chorea or related movement disorder v1.107 | PDE2A | Arina Puzriakova Phenotypes for gene: PDE2A were changed from to Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v1.106 | PDE2A | Arina Puzriakova Mode of inheritance for gene: PDE2A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.130 | PDE2A | Louise Daugherty Classified gene: PDE2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.130 | PDE2A | Louise Daugherty Added comment: Comment on list classification: downgraded to Amber until evidence from GLH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.130 | PDE2A | Louise Daugherty Gene: pde2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.86 | PDE2A | Louise Daugherty Classified gene: PDE2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.86 | PDE2A | Louise Daugherty Gene: pde2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.54 | PDE2A | Louise Daugherty reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.53 | PDE2A | James Polke reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.52 | PDE2A | Louise Daugherty Source NHS GMS was added to PDE2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder 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 |