| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia v1.131 | ATXN7_SCA7_CAG | Bryony Thompson Marked STR: ATXN7_SCA7_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.131 | ATXN7_SCA7_CAG | Bryony Thompson Str: atxn7_sca7_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.131 | ATXN7_SCA7_CAG | Bryony Thompson Classified STR: ATXN7_SCA7_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.131 | ATXN7_SCA7_CAG | Bryony Thompson Str: atxn7_sca7_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.130 | ATXN7_SCA7_CAG |
Bryony Thompson STR: ATXN7_SCA7_CAG was added STR: ATXN7_SCA7_CAG was added to Ataxia. Sources: Expert List Mode of inheritance for STR: ATXN7_SCA7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN7_SCA7_CAG were set to 29325606; 20301433 Phenotypes for STR: ATXN7_SCA7_CAG were set to Spinocerebellar ataxia 7 MIM#164500 Review for STR: ATXN7_SCA7_CAG was set to GREEN STR: ATXN7_SCA7_CAG was marked as clinically relevant STR: ATXN7_SCA7_CAG was marked as current diagnostic Added comment: NM_000333.3:c.89_91AGC[X] Gain of function mechanism of disease Normal: ≤27 repeats Mutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype. Pathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average Pathogenic full penetrance: 37-460 repeats Sources: Expert List |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||