| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia - adult onset v1.46 | THAP11_SCA51_CAG | Bryony Thompson Marked STR: THAP11_SCA51_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v1.46 | THAP11_SCA51_CAG | Bryony Thompson Str: thap11_sca51_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v1.46 | THAP11_SCA51_CAG | Bryony Thompson Classified STR: THAP11_SCA51_CAG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v1.46 | THAP11_SCA51_CAG | Bryony Thompson Str: thap11_sca51_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v1.45 | THAP11_SCA51_CAG |
Bryony Thompson STR: THAP11_SCA51_CAG was added STR: THAP11_SCA51_CAG was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for STR: THAP11_SCA51_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319 Phenotypes for STR: THAP11_SCA51_CAG were set to Spinocerebellar ataxia 51, MIM# 620947 Review for STR: THAP11_SCA51_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: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||