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| Repeat Disorders v0.162 | SCA_THAP11_CAG |
Bryony Thompson STR: SCA_THAP11_CAG was added STR: SCA_THAP11_CAG was added to Repeat Disorders. Sources: Other Mode of inheritance for STR: SCA_THAP11_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA_THAP11_CAG were set to 15368101; 24677642; 34165550; 38113319 Phenotypes for STR: SCA_THAP11_CAG were set to autosomal dominant cerebellar ataxia MONDO:0020380 Review for STR: SCA_THAP11_CAG was set to AMBER Added comment: 7 individuals from 2 Chinese families with SCA (1 was pre-ataxic) and a THAP11 CAG (polyQ) expansion. 45 repeats was the lowest number of repeats in an affected individual. A 46/29 CAG THAP11 genotype has also been identified in an individual with ataxia of European ancestry, that also had a CACNA1A pathogenic expansion which causes SCA6. Analysis of the 1000 genomes cohort (n=2504), suggests a normal range between 19-39. Also, a supporting mouse model and functional assays support a toxic aggregation mechanism of disease. Further probands/families are required to confirm the gene-disease association. Sources: Other |
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| Repeat Disorders v0.146 | SCA6 | Zornitza Stark Tag adult-onset tag was added to STR: SCA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.18 | SCA6 | Bryony Thompson Marked STR: SCA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.18 | SCA6 | Bryony Thompson Str: sca6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.18 | SCA6 | Bryony Thompson Classified STR: SCA6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.18 | SCA6 | Bryony Thompson Str: sca6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.17 | SCA6 |
Bryony Thompson STR: SCA6 was added STR: SCA6 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: SCA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA6 were set to 8988170; 20301319; 29325606 Phenotypes for STR: SCA6 were set to Spinocerebellar ataxia 6 MIM#183086; Episodic ataxia, type 2 MIM#108500 Review for STR: SCA6 was set to GREEN STR: SCA6 was marked as clinically relevant Added comment: NM_023035.2:c.6929_6931CAG[X] PolyQ expansion alters gene binding, impairs transcription factor function, and is toxic to cells expressing the α1ACT – effects consistent with a loss of function Normal: ≤18 repeats Questionable significance: 19 CAG repeats Full penetrance: ≥20 repeats Sources: Expert list |
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