| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.150 | DYNC1H1 | Bryony Thompson Marked gene: DYNC1H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.150 | DYNC1H1 | Bryony Thompson Gene: dync1h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.150 | DYNC1H1 | Bryony Thompson Classified gene: DYNC1H1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.150 | DYNC1H1 | Bryony Thompson Gene: dync1h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | DYNC1H1 |
Sangavi Sivagnanasundram gene: DYNC1H1 was added gene: DYNC1H1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1H1 were set to PMID: 2245967; 25609763 Phenotypes for gene: DYNC1H1 were set to Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600; MONDO:0008026) Review for gene: DYNC1H1 was set to GREEN Added comment: Phenotypes can resemble those similar to congenital myopathy Age of onset ranges from birth to early childhood PMID: 22459677 Phenotypes included early childood onset of proximal leg weakness with muscle atropy and significant motor delay PMID: 25609763 >10 individuals with SMA phenotypic features similar to congenital myopathy Sources: Other |
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