Activity
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12 actions
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| Dystonia, chorea or related movement disorder, childhood onset v7.3 | CPOX | Sharon Whatley reviewed gene: CPOX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.0 | C5orf42 | Louise Daugherty commented on gene: C5orf42: Added new-gene-name tag, new approved HGNC gene symbol for C5orf42 is CPLANE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.258 | CP | Louise Daugherty commented on gene: CP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.7 | CP |
Ellen McDonagh Source PanelApp was added to CP. Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebellar ataxia 604290; Dystonia; [Hypoceruloplasminemia, hereditary] 604290; Aceruloplasminemia; Hemosiderosis, systemic, due to aceruloplasminemia 604290 for gene: CP |
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| Dystonia, chorea or related movement disorder, childhood onset v0.1 | SCP2 |
Ellen McDonagh Source South West GLH was added to SCP2. Mode of inheritance for gene SCP2 was changed from to Unknown Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2 |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | WDPCP |
Ellen McDonagh gene: WDPCP was added gene: WDPCP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: WDPCP was set to |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | SCP2 |
Ellen McDonagh gene: SCP2 was added gene: SCP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SCP2 was set to |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | CPT2 |
Ellen McDonagh gene: CPT2 was added gene: CPT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CPT2 was set to |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | CPT1A |
Ellen McDonagh gene: CPT1A was added gene: CPT1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CPT1A was set to |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | CPS1 |
Ellen McDonagh gene: CPS1 was added gene: CPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CPS1 was set to |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | CPOX |
Ellen McDonagh gene: CPOX was added gene: CPOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CPOX was set to |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | CP |
Ellen McDonagh gene: CP was added gene: CP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CP was set to |
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