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| Repeat Disorders v0.145 | OPMD | Zornitza Stark Tag adult-onset tag was added to STR: OPMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.22 | OPMD | Bryony Thompson Classified STR: OPMD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.22 | OPMD | Bryony Thompson Str: opmd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.21 | OPMD |
Bryony Thompson STR: OPMD was added STR: OPMD was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: OPMD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for STR: OPMD were set to 9462747; 20301305 Phenotypes for STR: OPMD were set to Oculopharyngeal muscular dystrophy MIM#164300 Review for STR: OPMD was set to GREEN STR: OPMD was marked as clinically relevant Added comment: NM_004643.3:c.4_6[X] Expected gain of function mechanism of disease Normal allele: (GCN)10 / Ala10 Autosomal recessive: (GCN)11/Ala11 Autosomal dominant: (GCN)12-17 Sources: Expert list |
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