| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset dystonia, chorea or related movement disorder v1.37 | CP | Arina Puzriakova Phenotypes for gene: CP were changed from Cerebellar ataxia 604290; Aceruloplasminemia; Hypoceruloplasminemia, hereditary 604290; Dystonia; Hemosiderosis, systemic, due to aceruloplasminemia 604290 to Cerebellar ataxia, OMIM:604290; Hypoceruloplasminemia, hereditary, OMIM:604290; Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.98 | MT-ND6 | James Polke commented on gene: MT-ND6: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: additonal review from Prof Huw Morris : I would suggest not including mitochondrial genes (although many can cause dystonia parkinsonsim) but rather including on the reports something along the lines:Concurrent CPEO, myopathy, neuropathy, optic atrophy may suggest a mitochondria disorder in a patient with ataxia, Parkinsonism or dystonia. Muscle biopsy, enzyme analysis and analysis of the mitochindrial gene panel may be useful | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.98 | MT-ND1 | James Polke commented on gene: MT-ND1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: additonal review from Prof Huw Morris : I would suggest not including mitochondrial genes (although many can cause dystonia parkinsonsim) but rather including on the reports something along the lines:Concurrent CPEO, myopathy, neuropathy, optic atrophy may suggest a mitochondria disorder in a patient with ataxia, Parkinsonism or dystonia. Muscle biopsy, enzyme analysis and analysis of the mitochindrial gene panel may be useful | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.98 | MT-ATP6 | James Polke commented on gene: MT-ATP6: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: additonal review from Prof Huw Morris : I would suggest not including mitochondrial genes (although many can cause dystonia parkinsonsim) but rather including on the reports something along the lines:Concurrent CPEO, myopathy, neuropathy, optic atrophy may suggest a mitochondria disorder in a patient with ataxia, Parkinsonism or dystonia. Muscle biopsy, enzyme analysis and analysis of the mitochindrial gene panel may be useful | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.88 | SCP2 | Louise Daugherty edited their review of gene: SCP2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | CP | Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | CP | James Polke reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | CP | Louise Daugherty Source NHS GMS was added to CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | CP | Louise Daugherty Source London North GLH was added to CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.50 | SCP2 | Louise Daugherty reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | SCP2 | Emily Jones reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: ; Publications: 16685654, 26497993; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, 613724; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | SCP2 |
Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2 Publications for gene SCP2 were changed from PMID: 16685654 to 26497993; 16685654 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | SCP2 | Louise Daugherty Source NHS GMS was added to SCP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | SCP2 | Louise Daugherty Source South West GLH was added to SCP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | SCP2 |
Ellen McDonagh gene: SCP2 was added gene: SCP2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SCP2 was set to Publications for gene: SCP2 were set to PMID: 16685654 Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724 |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | CP |
Ellen McDonagh gene: CP was added gene: CP was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Cerebellar ataxia 604290; Aceruloplasminemia; Hypoceruloplasminemia, hereditary 604290; Dystonia; Hemosiderosis, systemic, due to aceruloplasminemia 604290 |
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