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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.93 | MATR3 |
Bryony Thompson gene: MATR3 was added gene: MATR3 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MATR3 were set to 19344878; 34659085; 25154462; 31056746 Phenotypes for gene: MATR3 were set to distal myopathy with vocal cord weakness MONDO:0018951 Mode of pathogenicity for gene: MATR3 was set to Other Review for gene: MATR3 was set to GREEN gene: MATR3 was marked as current diagnostic Added comment: At least 13 families with distal myopathy with vocal cord and pharyngeal weakness reported with the same recurrent missense variant p.Ser85Cys, which has been shown to arise by independent mutational events in multiple populations. A mouse model of the variant recapitulated the multisystem proteinopathy phenotype which includes myopathy. The mechanism of disease is toxic gain of function Sources: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.83 | DES | Bryony Thompson Classified gene: DES as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.83 | DES | Bryony Thompson Added comment: Comment on list classification: Myofibrillar myopathy is characterized by slowly progressive muscle weakness, from distal to proximal lower extremities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.83 | DES | Bryony Thompson Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.82 | DES | Bryony Thompson Classified gene: DES as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.82 | DES | Bryony Thompson Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 | DES | Zornitza Stark Marked gene: DES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 | DES | Zornitza Stark Added comment: Comment when marking as ready: Variable presentation, some overlap with LGMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 | DES | Zornitza Stark Gene: des has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 | DES | Zornitza Stark Classified gene: DES as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 | DES | Zornitza Stark Gene: des has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | GAA |
Elena Savva gene: GAA was added gene: GAA was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to PMID: 29880332 Phenotypes for gene: GAA were set to Glycogen storage disease II 232300 Review for gene: GAA was set to GREEN Added comment: PMID: 29880332 - 16 adult patients (9 families) with Pombe disease. Proximal muscle weakness (12/16) and elevated CK were reported. Muscle biopsy showed vacuoles in 4/9 patients. Patients were described as having LGMD. Sources: Expert list |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | DOK7 |
Elena Savva gene: DOK7 was added gene: DOK7 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to PMID: 31453852; 32360404 Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10 254300 Review for gene: DOK7 was set to GREEN Added comment: PMID: 31453852 - two adult patients with PTC variants and severe proximal muscle weakness with childhood onset. Condition is described as limb girdle myasthenia. Patient 1 had shoulder abduction and severe weakness of the pelvic girdle, patient 2 had muscle biopsy reveal muscle fibre II atrophy. PMID: 32360404 - one adult patient with late onset atypical limb-girdle pattern of muscle weakness. Biopsy of deltoid muscle shows no features of MD. PMID: 18626973 - 16 patients report proximal limb weakness, where 10 report neonatal onset. Sources: Expert list |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | DES |
Elena Savva gene: DES was added gene: DES was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DES were set to PMID: 20718792 Phenotypes for gene: DES were set to Myopathy, myofibrillar, 1 601419 Review for gene: DES was set to AMBER Added comment: PMID: 20718792: large review of >100 patients. >70% had myopathy or muscle weakness, 67% presented with both distal and proximal muscle weakness. Authors note myopathy generally begins with distal limbs, progressing later in life to proximal limb involvement. Sources: Expert list |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | MYH7 |
Crystle Lee gene: MYH7 was added gene: MYH7 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH7 were set to 27387980; 20733148 Phenotypes for gene: MYH7 were set to Laing distal myopathy (MIM#160500); Scapuloperoneal syndrome, myopathic type (MIM#181430) Mode of pathogenicity for gene: MYH7 was set to Other Review for gene: MYH7 was set to AMBER Added comment: Associated with a spectrum of skeletal myopathies which includes a scapuloperoneal or limb-girdle muscle form. Sources: Expert Review |
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