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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.106 | VMA21 | Bryony Thompson Classified gene: VMA21 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.106 | VMA21 | Bryony Thompson Gene: vma21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 | VMA21 | Zornitza Stark Marked gene: VMA21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 | VMA21 | Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap with LGMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 | VMA21 | Zornitza Stark Gene: vma21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 | VMA21 | Zornitza Stark Classified gene: VMA21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 | VMA21 | Zornitza Stark Gene: vma21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 | VMA21 | Zornitza Stark Tag deep intronic tag was added to gene: VMA21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 | VMA21 |
Crystle Lee gene: VMA21 was added gene: VMA21 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: VMA21 were set to 27916343; 25809233; 23315026 Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy (MIM#310440) Review for gene: VMA21 was set to AMBER Added comment: Childhood onset muscle disease, primarily affecting proximal muscles and elevated CK. No other muscle group involvement. Characterize by progressive muscle weakness with a limb-girdle pattern (PMID: 25809233). Differential diagnosis with LGMD (PanelApp UK) Intronic variants in multiple families. Onset in childhood PMID: 25809233: Different splice site variants reported in 2 families, onset in childhood. PMID: 23315026: 5 splice region and 1 missense reported in 14 families with multiple affected. Quantitative RT-PCR from patient fibroblasts demonstrated reduction in VMA21 mRNA. Sources: Expert Review Sources: Expert Review |
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