Activity

Filter

Cancel
Date Panel Item Activity
29 actions
Adult onset neurodegenerative disorder v4.34 TBP_CAG Eleanor Williams commented on STR: TBP_CAG
Adult onset neurodegenerative disorder v4.34 TBP_CAG Eleanor Williams Classified STR: TBP_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v4.34 TBP_CAG Eleanor Williams Str: tbp_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v4.28 TBP_CAG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: TBP_CAG.
Adult onset neurodegenerative disorder v4.28 TBP_CAG Sarah Leigh reviewed STR: TBP_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.287 TBP_CAG Sarah Leigh Publications for STR: TBP_CAG were set to 20301611
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v2.264 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v2.238 TBP_CAG Arina Puzriakova Tag watchlist tag was added to STR: TBP_CAG.
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v2.237 TBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Adult onset neurodegenerative disorder v2.237 TBP Arina Puzriakova Mode of inheritance for gene: TBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v2.19 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v2.19 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v1.75 TBP_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: TBP_CAG.
Adult onset neurodegenerative disorder v1.74 TBP Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v1.69 TBP Louise Daugherty Source NHS GMS was added to TBP.
Adult onset neurodegenerative disorder v1.67 TBP Louise Daugherty Source Yorkshire and North East GLH was added to TBP.
Adult onset neurodegenerative disorder v0.37 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.37 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v0.2 TBP Rebecca Foulger Added phenotypes Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 for gene: TBP
Adult onset neurodegenerative disorder 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