| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.133 | ADSSL1 | Bryony Thompson Marked gene: ADSSL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.133 | ADSSL1 | Bryony Thompson Gene: adssl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.133 | ADSSL1 | Bryony Thompson Phenotypes for gene: ADSSL1 were changed from Myopathy Distal 5 (MONDO:0014877; MIM#617030) to Nemaline myopathy MONDO:0018958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.132 | ADSSL1 | Bryony Thompson Publications for gene: ADSSL1 were set to 32646962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.131 | ADSSL1 | Bryony Thompson Publications for gene: ADSSL1 were set to PMID: 3650622; 28268051; 32646962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.131 | ADSSL1 | Bryony Thompson Classified gene: ADSSL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.131 | ADSSL1 | Bryony Thompson Gene: adssl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.130 | ADSSL1 | Bryony Thompson reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32646962; Phenotypes: Nemaline myopathy MONDO:0018958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | ADSSL1 |
Sangavi Sivagnanasundram gene: ADSSL1 was added gene: ADSSL1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSSL1 were set to PMID: 3650622; 28268051; 32646962 Phenotypes for gene: ADSSL1 were set to Myopathy Distal 5 (MONDO:0014877; MIM#617030) Review for gene: ADSSL1 was set to GREEN Added comment: PMID: 3650622; 28268051 Age of onset 13-17 years in multiple individuals of unrelated families PMID: 32646962 - Multiple individuals diagnosed with distal myopathy 5 (MD5) Sources: Other |
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