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| Adult onset dystonia, chorea or related movement disorder v0.101 | SDHA |
Louise Daugherty Source Expert Review Red was added to SDHA. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Adult onset dystonia, chorea or related movement disorder v0.100 | SDHA | Louise Daugherty commented on gene: SDHA: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.99 | SDHA | Louise Daugherty commented on gene: SDHA: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.98 | SDHA | James Polke commented on gene: SDHA: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial phenotpye (LS) infancy/early childhood | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.88 | SDHAF1 | Louise Daugherty edited their review of gene: SDHAF1: 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 | SDHA | Louise Daugherty reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | SDHA | James Polke reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | SDHA | Louise Daugherty Source NHS GMS was added to SDHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | SDHA | Louise Daugherty Source London North GLH was added to SDHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.50 | SDHAF1 | Louise Daugherty reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | SDHAF1 | Emily Jones reviewed gene: SDHAF1: Rating: RED; Mode of pathogenicity: ; Publications: 27683074, 23322652; Phenotypes: Mitochondrial complex II deficiency, 252011; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | SDHAF1 |
Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1 Publications for gene SDHAF1 were changed from to 27683074; 23322652 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | SDHAF1 | Louise Daugherty Source NHS GMS was added to SDHAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | SDHAF1 | Louise Daugherty Source South West GLH was added to SDHAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.18 | SDHA | Louise Daugherty Phenotypes for gene: SDHA were changed from to Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | SDHAF1 |
Ellen McDonagh gene: SDHAF1 was added gene: SDHAF1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SDHAF1 was set to Phenotypes for gene: SDHAF1 were set to Dystonia |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | SDHA |
Ellen McDonagh gene: SDHA was added gene: SDHA was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal |
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