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Paroxysmal central nervous system disorders v1.40 | TBP_CAG | Arina Puzriakova commented on STR: TBP_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v1.38 | TBP_CAG | Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v1.34 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v1.33 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v1.32 | TBP | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v1.32 | TBP | Arina Puzriakova Mode of inheritance for gene: TBP was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v1.31 | 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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Paroxysmal central nervous system disorders v1.31 | TBP | Arina Puzriakova Phenotypes for gene: TBP were changed from to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.166 | TBP_CAG | Rebecca Foulger Classified STR: TBP_CAG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.166 | TBP_CAG | Rebecca Foulger Str: tbp_cag has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.157 | TBP_CAG | Rebecca Foulger commented on STR: TBP_CAG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: TBP_CAG. Suggested rating: ?; Comments provided: Triplet repeat. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.150 | TBP | Rebecca Foulger Marked gene: TBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.150 | TBP | Rebecca Foulger Gene: tbp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.100 | TBP | Rebecca Foulger Classified gene: TBP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.100 | TBP | Rebecca Foulger Added comment: Comment on list classification: Kept rating of TBP as Red following Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.100 | TBP | Rebecca Foulger Gene: tbp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.98 | TBP | Rebecca Foulger commented on gene: TBP: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.97 | TBP | Robyn Labrum reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.96 | TBP | Rebecca Foulger commented on gene: TBP: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (TBP) previously previously added to the panel by London North GLH. Suggested rating: Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.95 | TBP | Penny Clouston reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.94 | TBP_CAG | Rebecca Foulger edited their review of STR: TBP_CAG: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.94 | TBP_CAG | Rebecca Foulger commented on STR: TBP_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.27 | TBP | Rebecca Foulger Source NHS GMS was added to TBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.26 | TBP | Rebecca Foulger reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.25 | TBP | James Polke reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.24 | TBP |
Rebecca Foulger gene: TBP was added gene: TBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,London North GLH Mode of inheritance for gene: TBP was set to |
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Paroxysmal central nervous system disorders v0.17 | TBP_CAG | Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.17 | TBP_CAG | Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.16 | TBP_CAG |
Louise Daugherty STR: TBP_CAG was added STR: TBP_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. 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 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 : Brain channelopathy v1.48 Sources: Expert list |