| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.79 | ADSSL1 | Bryony Thompson Marked gene: ADSSL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.79 | ADSSL1 | Bryony Thompson Gene: adssl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.79 | ADSSL1 | Bryony Thompson Classified gene: ADSSL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.79 | ADSSL1 | Bryony Thompson Gene: adssl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.78 | ADSSL1 |
Bryony Thompson gene: ADSSL1 was added gene: ADSSL1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSSL1 were set to 26506222; 28268051; 34635388; 32646962 Phenotypes for gene: ADSSL1 were set to adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834 Review for gene: ADSSL1 was set to GREEN gene: ADSSL1 was marked as current diagnostic Added comment: Over 60 families reported mainly in Japan and Korea. PMID: 26506222 - 4 individuals with adolescent-onset distal myopathy in 2 unrelated Korean families cosegregating compound heterozygous variants (p.D304N and p.I350fs). In vitro assays demonstrated reduced enzyme activity and cell viability and supporting zebrafish model. PMID: 28268051 - 4 unrelated Korean distal myopathy cases with biallelic variants PMID: 34635388 - Turkish individual with distal myopathy and homozygous variant (c.989G>A, p.Ala300Thr) and Indian individual with proximal muscle weakness and homozygous variant (c.910G>A, p.Asp304Asn) PMID: 32646962 - 63 patients from 59 Japanese families with biallelic variants of ADSSL1. Most displayed variable muscle symptoms including in the proximal and/or distal leg muscles. Nemaline bodies in addition to increased lipid droplets and myofibrillar disorganization were commonly observed in all patients, suggesting that the disease may be classified as nemaline myopathy Sources: Literature |
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