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| Adult onset dystonia, chorea or related movement disorder v1.166 | TBP_CAG | Arina Puzriakova commented on STR: TBP_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.153 | TBP_CAG | Arina Puzriakova Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.152 | TBP | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.152 | TBP | Arina Puzriakova Mode of inheritance for gene: TBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.151 | TBP | Arina Puzriakova Phenotypes for gene: TBP were changed from {Parkinson disease, susceptibility to}, 168600; Mohr-Tranebjaerg syndrome, 304700; Spinocerebellar ataxia 17, 607136 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.150 | TBP |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: TBP. Tag currently-ngs-unreportable tag was added to gene: TBP. |
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| Adult onset dystonia, chorea or related movement disorder v0.96 | TBP_CAG | Louise Daugherty commented on STR: TBP_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.89 | TBP | Louise Daugherty edited their review of gene: TBP: 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 v0.56 | TBP_CAG | Louise Daugherty Source NHS GMS was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.55 | TBP_CAG | Louise Daugherty commented on STR: TBP_CAG: STR 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. Comment : STR suggested by Huw and Raquel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.55 | TBP_CAG |
Louise Daugherty Source London North GLH was added to STR: TBP_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Adult onset dystonia, chorea or related movement disorder v0.50 | TBP | Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | TBP | Emily Jones reviewed gene: TBP: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | TBP | Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.47 | TBP | Louise Daugherty Source NHS GMS was added to TBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | TBP | Louise Daugherty Source South West GLH was added to TBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.43 | TBP_CAG | Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.43 | TBP_CAG | Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.42 | TBP_CAG |
Louise Daugherty STR: TBP_CAG was added STR: TBP_CAG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: TBP_CAG. Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: TBP_CAG were set to 20301611 Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48 Sources: Expert list |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | TBP |
Ellen McDonagh gene: TBP was added gene: TBP was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBP were set to {Parkinson disease, susceptibility to}, 168600; Spinocerebellar ataxia 17, 607136 Mode of pathogenicity for gene: TBP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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