Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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29 actions
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| Neurodegenerative disorders, adult onset v4.34 | TBP_CAG | Eleanor Williams commented on STR: TBP_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v4.34 | TBP_CAG | Eleanor Williams Classified STR: TBP_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v4.34 | TBP_CAG | Eleanor Williams Str: tbp_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v4.33 | TBP_CAG |
Eleanor Williams Tag watchlist was removed from STR: TBP_CAG. Tag Q3_23_promote_green was removed from STR: TBP_CAG. |
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| Neurodegenerative disorders, adult onset v4.28 | TBP_CAG | Sarah Leigh Tag Q3_23_promote_green tag was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v4.28 | TBP_CAG | Sarah Leigh reviewed STR: TBP_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.287 | TBP_CAG | Sarah Leigh Publications for STR: TBP_CAG were set to 20301611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.267 | TBP_CAG | Arina Puzriakova commented on STR: TBP_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.264 | TBP_CAG | Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.239 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.238 | TBP_CAG | Arina Puzriakova Tag watchlist tag was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.238 | TBP | Arina Puzriakova Mode of pathogenicity for gene: TBP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.237 | TBP | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.237 | TBP | Arina Puzriakova Mode of inheritance for gene: TBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.236 | TBP | Arina Puzriakova Phenotypes for gene: TBP were changed from Spinocerebellar ataxia 17, 607136; Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600; {Parkinson disease, susceptibility to}, 168600 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.19 | TBP_CAG | Arina Puzriakova Classified STR: TBP_CAG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.19 | TBP_CAG | Arina Puzriakova Str: tbp_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | TBP_CAG | Louise Daugherty edited their review of STR: TBP_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment : Median age at onset 23 years, progressive; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | TBP_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TBP | Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TBP | Nick Beauchamp reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 17, 607136, Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600, {Parkinson disease, susceptibility to}, 168600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.69 | TBP | Louise Daugherty Source NHS GMS was added to TBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.67 | TBP | Louise Daugherty Source Yorkshire and North East GLH was added to TBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v0.37 | TBP_CAG | Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v0.37 | TBP_CAG | Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v0.36 | TBP_CAG |
Louise Daugherty STR: TBP_CAG was added STR: TBP_CAG was added to Neurodegenerative disorders - adult onset. 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 : Hereditary ataxia v1.148, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Brain channelopathy v1.46, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45 Sources: Expert list |
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| Neurodegenerative disorders, adult onset v0.2 | TBP |
Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: TBP. Tag currently-ngs-unreportable tag was added to gene: TBP. |
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| Neurodegenerative disorders, adult onset v0.2 | TBP | Rebecca Foulger Added phenotypes Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 for gene: TBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v0.2 | TBP |
Rebecca Foulger gene: TBP was added gene: TBP was added to Neurodegenerative disorders - adult onset. 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 Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600 |
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