| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 | MRUPAV | Bryony Thompson Marked STR: MRUPAV as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 | MRUPAV | Bryony Thompson Str: mrupav has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 | MRUPAV | Bryony Thompson Classified STR: MRUPAV as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 | MRUPAV | Bryony Thompson Str: mrupav has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.3 | MRUPAV |
Bryony Thompson STR: MRUPAV was added STR: MRUPAV was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for STR: MRUPAV was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: MRUPAV were set to 32451610; 37145156; 36151849; 35499779 Phenotypes for STR: MRUPAV were set to myopathy, distal, with rimmed vacuoles MONDO:0014945 Review for STR: MRUPAV was set to GREEN STR: MRUPAV was marked as clinically relevant Added comment: Expansion of 33-mer (33 amino acids, 99 bp) identified in coding exon 3 (exon 5) of PLIN4 via linkage analysis and long read sequencing in a large Italian cohort with progressive myopathy with specific pathology including rimmed ubiquitin-positive autophagic vacuolation. Suggested disease name myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) An additional 4 unrelated Chinese families/probands were reported. Normal PLIN4 alleles: 27-31 x 33-mer Pathogenic: ≥39 x 33-mer Sources: Literature |
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