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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 | KY | Bryony Thompson Marked gene: KY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 | KY | Bryony Thompson Gene: ky has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 | KY | Bryony Thompson Classified gene: KY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 | KY | Bryony Thompson Gene: ky has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 | KY |
Sangavi Sivagnanasundram gene: KY was added gene: KY was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KY were set to 27484770; 27485408; 30591934; 11136708 Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7 (MIM#617114) Review for gene: KY was set to GREEN Added comment: Onset is early childhood with slow progression of muscle weakness PMID: 27484770; 27485408; 30591934 4 individuals from 3 unrelated consanguineous families with slowly progressive myopathy. Muscle biopsy showed myopathic changes (increased variability in fibre size) and all individuals had a homozygous mutation present in the KY gene. PMID: 11136708 A mouse model showed myopathy degeneration in the presence of a mutation in KY. Histopathology on the mutant mouse confirmed the importance of KY protein in muscle growth and function. Sources: Other |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.84 | DNAJB4 |
Bryony Thompson gene: DNAJB4 was added gene: DNAJB4 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: DNAJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DNAJB4 were set to 36512060; 36264506 Phenotypes for gene: DNAJB4 were set to distal myopathy MONDO:0018949; Myopathy, MONDO:0005336, DNAJB4-related Review for gene: DNAJB4 was set to GREEN Added comment: Emerging evidence of 2 different disease mechanisms: monoallelic distal myopathy may be caused by toxic gain of function and biallelic loss of function with variable onset myopathy with respiratory failure. There is more evidence for the biallelic myopathy with 3 families. PMID: 36512060 - A single family with distal myopathy segregating a heterozygous missense variant (c.270T>A p.F90L). In vitro functional assays suggest a toxic gain of function mechanism of disease for p.F90L. Both Dnajb4F90L knock-in and Dnafjb4 knockout mice developed muscle weakness PMID: 36264506 - 4 individuals from 3 unrelated families with myopathy with early respiratory failure with homozygous variants (c.856A > T; p.Lys286Ter, c.74G > A; p.Arg25Gln, c.785 T > C; p.Leu262Ser). DNAJB4 knockout mice had muscle weakness and fibre atrophy with prominent diaphragm involvement and kyphosis, muscle and myotubes had myofibrillar disorganization and accumulated Z-disc proteins and protein chaperones. Sources: Literature |
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