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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.37 | OPDM4_RILPL1_CGG | Bryony Thompson Marked STR: OPDM4_RILPL1_CGG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.37 | OPDM4_RILPL1_CGG | Bryony Thompson Str: opdm4_rilpl1_cgg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.37 | OPDM4_RILPL1_CGG | Bryony Thompson Classified STR: OPDM4_RILPL1_CGG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.37 | OPDM4_RILPL1_CGG | Bryony Thompson Str: opdm4_rilpl1_cgg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.36 | OPDM4_RILPL1_CGG |
Bryony Thompson STR: OPDM4_RILPL1_CGG was added STR: OPDM4_RILPL1_CGG was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for STR: OPDM4_RILPL1_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: OPDM4_RILPL1_CGG were set to 35148830 Phenotypes for STR: OPDM4_RILPL1_CGG were set to Oculopharyngodistal myopathy MONDO:0025193 Review for STR: OPDM4_RILPL1_CGG was set to GREEN STR: OPDM4_RILPL1_CGG was marked as clinically relevant Added comment: 5'UTR repeat upstream of RILPL1. Analyses suggest that toxic RNA gain-of-function is the mechanism of disease for the repeat expansion. Distribution of CGG repeat units in RILPL1 ranged from 9 to 16 among 200 normal controls. The size of the CGG repeat ranged from 139 to 197 (169.91 ± 21.82) repeats in 11 unrelated individuals with OPDM. Segregation evidence from 1 family, with 2 affected individuals with the repeat expansion and 1 individual with essential tremor but not OPDM and 86 repeats (intermediate). Sources: Literature |
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