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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.54 | NUTM2B-AS1_OPDM_CCG | Bryony Thompson Marked STR: NUTM2B-AS1_OPDM_CCG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.54 | NUTM2B-AS1_OPDM_CCG | Bryony Thompson Str: nutm2b-as1_opdm_ccg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.54 | NUTM2B-AS1_OPDM_CCG | Bryony Thompson Classified STR: NUTM2B-AS1_OPDM_CCG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.54 | NUTM2B-AS1_OPDM_CCG | Bryony Thompson Str: nutm2b-as1_opdm_ccg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.53 | NUTM2B-AS1_OPDM_CCG |
Bryony Thompson STR: NUTM2B-AS1_OPDM_CCG was added STR: NUTM2B-AS1_OPDM_CCG was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for STR: NUTM2B-AS1_OPDM_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: NUTM2B-AS1_OPDM_CCG were set to 31332380; 37923380; 39308795; 38159879 Phenotypes for STR: NUTM2B-AS1_OPDM_CCG were set to Oculopharyngodistal myopathy MONDO:0025193 Review for STR: NUTM2B-AS1_OPDM_CCG was set to GREEN STR: NUTM2B-AS1_OPDM_CCG was marked as clinically relevant Added comment: At least 10 new families/probands have been reported with the repeat expansion. These individuals had an OPDM phenotype, mostly without white matter changes. NR_120611.1:n.192CCG[X] 4 affected members of a single Japanese family with oculopharyngeal myopathy with leukoencephalopathy, with a heterozygous trinucleotide (CCG)n repeat expansion in the bidirectionally transcribed long noncoding RNA LOC642361 gene (in the CGG direction). RNA toxicity is postulated as the mechanism of disease. CGG repeats in controls ranged from 3 to 16. Repeats in affected family members ranged from 35-60. Sources: Literature |
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