Hereditary ataxia with onset in adulthood
Gene: TBPComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 4:33 p.m. | Last Modified: 10 Nov 2021, 4:33 p.m.
Panel Version: 2.119
There are no SNVs for this gene being associated to the disorder, this gene is rated RED. However, there is a pertinent STR TBP_CAG, which is GREEN on this panelCreated: 19 Jun 2019, 1:04 p.m.
Mode of inheritance for gene: TBP was changed from Unknown to Other
Phenotypes for gene: TBP were changed from Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 to Spinocerebellar ataxia 17, OMIM:607136
Louise Daugherty: Comment on phenotypes: Implica
Tag nucleotide-repeat-expansion tag was added to gene: TBP. Tag currently-ngs-unreportable tag was added to gene: TBP.
gene: TBP was added gene: TBP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: TBP was set to Unknown Phenotypes for gene: TBP were set to Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 Mode of pathogenicity for gene: TBP was set to Other - please provide details in the comments