| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Repeat Disorders v0.146 | SBMA | Zornitza Stark Tag adult-onset tag was added to STR: SBMA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.2 | SBMA | Bryony Thompson Marked STR: SBMA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.2 | SBMA | Bryony Thompson Str: sbma has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.2 | SBMA | Bryony Thompson Classified STR: SBMA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.2 | SBMA | Bryony Thompson Str: sbma has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.1 | SBMA |
Bryony Thompson STR: SBMA was added STR: SBMA was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: SBMA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: SBMA were set to 2062380; 20301508; 29325606 Phenotypes for STR: SBMA were set to Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Review for STR: SBMA was set to GREEN STR: SBMA was marked as clinically relevant Added comment: NM_000044.4:c.172_174CAG[X] Toxic gain of function mechanism of disease Normal: ≤34 repeats Unknown: 35 repeats, consideration of the affected individual's clinical presentation and reconciliation with repeat sizes in family members Reduced-penetrance: 36-37 repeats, interpreted within the context of family history, clinical presentation, genotype-phenotype correlations in other family members. Full-penetrance: ≥38 repeats Sources: Expert list |
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