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| Mendeliome v1.2231 | MRUPAV_PLIN4 | Bryony Thompson Marked STR: MRUPAV_PLIN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2231 | MRUPAV_PLIN4 | Bryony Thompson Str: mrupav_plin4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2231 | MRUPAV_PLIN4 | Bryony Thompson Classified STR: MRUPAV_PLIN4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2231 | MRUPAV_PLIN4 | Bryony Thompson Str: mrupav_plin4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2230 | MRUPAV_PLIN4 |
Bryony Thompson STR: MRUPAV_PLIN4 was added STR: MRUPAV_PLIN4 was added to Mendeliome. Sources: Literature STR tags were added to STR: MRUPAV_PLIN4. Mode of inheritance for STR: MRUPAV_PLIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: MRUPAV_PLIN4 were set to 32451610; 37145156; 36151849; 35499779 Phenotypes for STR: MRUPAV_PLIN4 were set to myopathy, distal, with rimmed vacuoles MONDO:0014945 Review for STR: MRUPAV_PLIN4 was set to GREEN STR: MRUPAV_PLIN4 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. The repeat expansion is not detectable using short-read sequencing. Normal PLIN4 alleles: 27-31 x 33-mer Pathogenic: ≥39 x 33-mer Sources: Literature |
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